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Research Publications

Advances in diagnosis and management of distal sensory polyneuropathies. Silsby M, Feldman EL, Dortch RD, Roth A, Haroutounian S, Rajabally YA, Vucic S, Shy ME, Oaklander AL, Simon NG. J Neurol Neurosurg Psychiatry. 2023 Mar 30:jnnp-2021-328489. doi: 10.1136/jnnp-2021-328489. Online ahead of print.

Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease. Donlevy GA, Cornett KMD, Garnett SP, Shy R, Estilow T, Yum SW, Anderson K, Pareyson D, Moroni I, Muntoni F, Reilly MM, Finkel RS, Herrmann DN, Eichinger KJ, Shy ME, Burns J, Menezes MP. Neurology. 2023 Aug 15;101(7):e717-e727. doi: 10.1212/WNL.0000000000207488. Epub 2023 Jun 28. PMID: 37380432; PMCID: PMC10437011

Charcot-Marie-Tooth disease (CMT) is a group of disorders that affect the peripheral nerves, which connect the brain and spinal cord to muscles and sensory cells. Symptoms include weakness, sensory loss, muscle atrophy (wasting), and foot deformities.

In this study, researchers evaluated the impact of body mass index (BMI) on disease progression over two years in children with CMT. Among 242 participants aged 3–20 years with CMT, the team categorized groups by BMI and assessed disease severity using the CMT Pediatric Scale (CMTPedS).

Results show that children with CMT who were severely underweight, underweight, or obese exhibited greater disability at baseline. Over the two-year period in those whose BMI remained stable, severely underweight children deteriorated at the fastest rate. For children who changed BMI categories over the two years, CMTPedS scores deteriorated faster in those who became overweight or obese. Authors note that interventions to maintain or improve BMI toward healthy weight may reduce disability in children with CMT.

Beware next-generation sequencing gene panels as the first-line genetic test in Charcot-Marie-Tooth disease. Record CJ, Pipis M, Poh R, Polke JM, Reilly MM. J Neurol Neurosurg Psychiatry. 2023 Apr;94(4):327-328. doi: 10.1136/jnnp-2022-330223. Epub 2022 Nov 14.

Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs. Rebelo AP, Tomaselli PJ, Medina J, Wang Y, Dohrn MF, Nyvltova E, Danzi MC, Garrett M, Smith SE, Pestronk A, Li C, Ruiz A, Jacobs E, Feely SME, França MC, Gomes MV, Santos DF, Kumar S, Lombard DB, Saporta M, Hekimi S, Barrientos A, Weihl C, Shy ME, Marques W, Zuchner S. Brain. 2023 Oct 3;146(10):4191-4199. doi: 10.1093/brain/awad158.

Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study. Fridman V, Sillau S, Bockhorst J, Smith K, Moroni I, Pagliano E, Pisciotta C, Piscosquito G, Laurá M, Muntoni F, Bacon C, Feely S, Grider T, Gutmann L, Shy R, Wilcox J, Herrmann DN, Li J, Ramchandren S, Sumner CJ, Lloyd TE, Day J, Siskind CE, Yum SW, Sadjadi R, Finkel RS, Scherer SS, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium-Rare Diseases Clinical Research Network. Ann Neurol. 2023 Mar;93(3):563-576. doi: 10.1002/ana.26518. Epub 2022 Oct 28.

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants. Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, Fridman V, Muntoni F, Poh R, Polke JM, Zuchner S, Shy ME, Scherer SS, Reilly MM; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network. Brain. 2023 Jun 7:awad187. doi: 10.1093/brain/awad187. Online ahead of print.

Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts. Cortese A, Currò R, Ronco R, Blake J, Rossor AM, Bugiardini E, Laurà M, Warner T, Yousry T, Poh R, Polke J, Rebelo A, Dohrn MF, Saporta M, Houlden H, Zuchner S, Reilly MM. Eur J Neurol. 2023 Sep 29. doi: 10.1111/ene.16063. Epub ahead of print. PMID: 37772343

Charcot–Marie–Tooth disease type 2 (CMT2), also known as hereditary motor and sensory neuropathy, is a disorder affecting nerve axons (ends of the nerves) which carry signals from the brain to the extremities. While mutations in the alpha-B-crystallin (CRYAB) gene have been associated with myofibrillar myopathy, dilated cardiomyopathy, and cataracts, they have not previously included peripheral neuropathy.

In this study, researchers expand the phenotype (observable characteristics) of CRYAB-related disease to include CMT2. The team performed whole-exome sequencing in two unrelated families with genetically unsolved axonal CMT2, assessing clinical, neurophysiological, and radiological features.

Results identify CRYAB mutations as a cause of CMT2 in these patients. Authors note that CRYAB mutations should be suspected in cases with late-onset CMT2, especially in the presence of congenital cataracts.

Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history. Rehbein T, Wu TT, Treidler S, Pareyson D, Lewis R, Yum SW, McCray BA, Ramchandren S, Burns J, Li J, Finkel RS, Scherer SS, Zuchner S, Shy ME, Reilly MM, Herrmann DN. Brain. 2023 Sep 1;146(9):3826-3835. doi: 10.1093/brain/awad095. PMID: 36947133; PMCID: PMC10473553

Charcot-Marie-Tooth disease type 4C (CMT4C) is an inherited, degenerative disorder affecting the nerves that travel to the feet and hands. CMT4C is caused by recessive variants in the SH3TC2 gene and characterized by early onset spinal deformities, as well as a wide spectrum of symptoms and severity. Currently, not much is known about the relationship between pathogenic (disease-causing) variants and disease manifestations.

In this study, researchers explored the natural history of CMT4C by gathering genetic and clinical data from the Inherited Neuropathy Consortium (INC). The team examined symptoms, neurological examinations, and neurophysiological characteristics over time in 56 individuals with CMT4C.

The resulting analysis marks the largest cross-sectional and only longitudinal study to date of the clinical phenotype of both adults and children with CMT4C. Authors note that by further defining the natural history of CMT4C, these data will help inform study design of future clinical trials for genetic treatments.

Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1. Pipis M, Won S, Poh R, Efthymiou S, Polke JM, Skorupinska M, Blake J, Rossor AM, Moran JJ, Munot P, Muntoni F, Laura M, Svaren J, Reilly MM. Brain. 2023 Oct 3;146(10):4025-4032. doi: 10.1093/brain/awad203. PMID: 37337674; PMCID: PMC10545524

Charcot-Marie-Tooth disease type 1A (CMT1A), the most common form of inherited peripheral neuropathy, is caused by a copy number variation (CNV) in the PMP22 gene. In rodent models of CMT1A, overexpression of miR-29a, a type of microRNA, has been shown to reduce the PMP22 transcript and protein level.

In this study, researchers demonstrate for the first time how imbalance in the microRNA-mediated regulation of gene expression can mimic a CNV-associated disease in humans. Study participants included a family of CMT1A patients enrolled in a natural history study.

Authors state that these findings show the importance of miR-29a in regulating PMP22 expression and could lead to development of new therapeutic drugs.

Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiency. Zhu Y, Lobato AG, Rebelo AP, Canic T, Ortiz-Vega N, Tao X, Syed S, Yanick C, Saporta M, Shy M, Perfetti R, Shendelman S, Züchner S, Zhai RG. JCI Insight. 2023 May 22;8(10):e164954. doi: 10.1172/jci.insight.164954.

Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1. Ajjarapu A, Feely SME, Shy ME, Trout C, Zuchner S, Moore SA, Mathews KD. Case Rep Neurol. 2023 Jun 12;15(1):146-152. doi: 10.1159/000530974. eCollection 2023 Jan-Dec.

Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints. Reilly MM, Herrmann DN, Pareyson D, Scherer SS, Finkel RS, Züchner S, Burns J, Shy ME. Ann Neurol. 2023 May;93(5):906-910. doi: 10.1002/ana.26633. Epub 2023 Mar 21.

Validation of the parent-proxy pediatric Charcot-Marie-Tooth disease quality of life outcome measure. Wu TT, Finkel RS, Siskind CE, Feely SME, Burns J, Reilly MM, Muntoni F, Estilow T, Shy ME, Ramchandren S; Childhood CMT Study Group of the Inherited Neuropathy Consortium. J Peripher Nerv Syst. 2023 Feb 7. doi: 10.1111/jns.12538. Epub ahead of print. PMID: 36748295.

Charcot-Marie-Tooth disease (CMT) is a group of genetic disorders that affect the peripheral nerves, which connect the brain and spinal cord to muscles and sensory endings. With symptoms including weakness, sensory loss, muscle atrophy (wasting), balance problems, and foot deformities, CMT is known to reduce health-related quality of life (QOL) in children as well as adults. However, there is currently no parent-proxy CMT QOL outcome measure for use in children for either natural history studies or clinical trials. 

In this study, researchers describe the validation of the parent-proxy pediatric CMT-QOL outcome measure for children aged 8 to 18 years. After developing a working version of the outcome measure, the team administered this version to 358 parents of children with CMT seen at the participating study sites of the Inherited Neuropathy Consortium from 2010 to 2016. Results from the parent-proxy version were compared with previously published results completed by the children themselves. To develop the final version, researchers performed rigorous tests of the data, including psychometric analysis, factor analysis, test-retest reliability, internal consistency, convergent validity, IRT analysis, and longitudinal analysis.

Results show that the parent-proxy version of the pediatric CMT-QOL outcome measure is a reliable, valid, and sensitive proxy measure of health-related QOL for children aged 8 to 18 with CMT.

Validation of the parent-proxy version of the pediatric Charcot-Marie-Tooth disease quality of life instrument for children aged 0-7 years. Wu TT, Finkel RS, Siskind CE, Feely SME, Burns J, Reilly MM, Muntoni F, Milev E, Estilow T, Shy ME, Ramchandren S; Childhood CMT Study Group of the Inherited Neuropathy Consortium. J Peripher Nerv Syst. 2023 Sep;28(3):382-389. doi: 10.1111/jns.12557. Epub 2023 May 18.

A neuropathy-associated kinesin KIF1A mutation hyper-stabilizes the motor-neck interaction during the ATPase cycle. Morikawa M, Jerath NU, Ogawa T, Morikawa M, Tanaka Y, Shy ME, Zuchner S, Hirokawa N. EMBO J. 2022 Mar 1;41(5):e108899. doi: 10.15252/embj.2021108899. Epub 2022 Feb 8. PMID: 35132656.

Charcot-Marie-Tooth (CMT) is a group of inherited, degenerative disorders affecting the nerves that travel to the feet and hands, causing muscle weakness, problems with balance and sensation as well as other symptoms. Axonal transport (a process essential for nerve development, function, and survival) mediated by the KIF1A gene is driven by interaction cycles between the kinesin (motor protein)’s motor and neck domains. In this study, researchers characterized a KIF1A mutant identified in a family with axonal-type CMT and other cases of human neuropathies. This characterization reveals that dynamic dissociation of the motor-neck interaction via the β7 (integrin protein) domain is essential for neuronal function.

Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A. Eichinger K, Sowden JE, Burns J, McDermott MP, Krischer J, Thornton J, Pareyson D, Scherer SS, Shy ME, Reilly MM, Herrmann DN. Front Neurol. 2022 Jun 27;13:930435. doi: 10.3389/fneur.2022.930435. eCollection 2022.

Association of plasma neurofilament light chain with disease activity in chronic inflammatory demyelinating polyradiculoneuropathy. Kapoor M, Carr A, Foiani M, Heslegrave A, Zetterberg H, Malaspina A, Compton L, Hutton E, Rossor A, Reilly MM, Lunn MP. Eur J Neurol. 2022 Nov;29(11):3347-3357. doi: 10.1111/ene.15496. Epub 2022 Jul 25.

Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype. Pipis M, Cortese A, Polke JM, Poh R, Vandrovcova J, Laura M, Skorupinska M, Jacquier A, Juntas-Morales R, Latour P, Petiot P, Sole G, Fromes Y, Shah S, Blake J, Choi BO, Chung KW, Stojkovic T, Rossor AM, Reilly MM. J Neurol Neurosurg Psychiatry. 2022 Jan;93(1):48-56. doi: 10.1136/jnnp-2021-327186. Epub 2021 Sep 13. PMID: 34518334; PMCID: PMC8685631.

Researchers seeking to better understand axonal Charcot-Marie-Tooth disease type 2CC (CMT2CC) conducted an observational study of 30 affected and 3 asymptomatic mutation carriers from 8 families, examining phenotype-genotype correlations. Study subjects had variants in the gene NEFH, which is thought to cause CMT2CC. Researchers found that most patients developed lower-limb predominant symptoms in adulthood. The disease progressed more rapidly than is typically seen in other CMT subtypes, and half of patients needed to use a wheelchair an average of 24.1 years after symptoms began. They found that that the unusual phenotype of CMT2CC is more similar to spinal muscular atrophy than classic CMT. Study authors said that these findings should allow a better understanding of the natural history of the disease and aid in variant interpretation.

Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease. Yiu EM, Bray P, Baets J, Baker SK, Barisic N, de Valle K, Estilow T, Farrar MA, Finkel RS, Haberlová J, Kennedy RA, Moroni I, Nicholson GA, Ramchandren S, Reilly MM, Rose K, Shy ME, Siskind CE, Yum SW, Menezes MP, Ryan MM, Burns J. J Neurol Neurosurg Psychiatry. 2022 May;93(5):530-538. doi: 10.1136/jnnp-2021-328483. Epub 2022 Feb 9.

HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling. Malcorps M, Amor-Barris S, Burnyte B, Vilimiene R, Armirola-Ricaurte C, Grigalioniene K, Ekshteyn A, Morkuniene A, Vaitkevicius A, De Vriendt E, Baets J, Scherer SS, Ambrozaityte L, Utkus A, Jordanova A, Peeters K. Orphanet J Rare Dis. 2022 Oct 14;17(1):374. doi: 10.1186/s13023-022-02541-0. PMID: 36242072; PMCID: PMC9569031.

Neuromyotonia and axonal neuropathy (NMAN) is a rare peripheral neuropathy and subtype of Charcot-Marie-Tooth disease. NMAN is characterized by damage to nerve axons (nerve ends) and overactivation of peripheral nerves. The disease is caused by mutations in the HINT1 gene, which are among the most common causes of recessive neuropathy. Most patients with NMAN are found to have an HINT1 variant that has spread throughout Eurasia and America. In this study, researchers performed the first analysis of NMAN in Lithuania. The team identified eight patients from 46 families with variations in the HINT1 gene, including a new variant. Study participants showed typical symptoms associated with NMAN (such as motor impairment in lower limbs), but also some atypical features (such as developmental delay and mood problems). In addition to expanding the understanding of NMAN, these findings may help diagnose inherited neuropathies in the Baltic region and beyond. Authors note that study results could also impact future therapeutic strategies, as a patient’s specific genetic mutation will determine their treatment options.

Severe distinct dysautonomia in RFC1-related disease associated with Parkinsonism. Record CJ, Alsukhni RA, Curro R, Kaski D, Rubin JS, Morris HR, Cortese A, Iodice V, Reilly MM. J Peripher Nerv Syst. 2022 Sep 30. doi: 10.1111/jns.12515. Epub ahead of print. PMID: 36177974.

Recently, biallelic (both alleles of a single gene) expansions in the RFC1 gene have been found to cause several neurological disorders in addition to a form of inherited neuropathy known as CANVAS (cerebellar ataxia, neuropathy, and vestibular areflexia syndrome). There are also descriptions of Parkinsonism and a multiple system atrophy (MSA)-like syndrome. However, the profile of the autonomic nervous system in a patient with CANVAS/MSA-like overlap syndrome had not yet been fully characterized. In this study, researchers present the first detailed description of autonomic characteristics in a patient with multisystem RFC1-related disease. Initially presenting with CANVAS, the patient developed Parkinsonism, cardiovascular failure, and severe autonomic failure similar to classical MSA. Results suggest that patients with an MSA-like syndrome, plus signs of vestibular (balance) failure or sensory neuropathy, should be tested for the RFC1 expansion. Authors also note that the link between MSA and CANVAS should be further explored.

Unusual upper limb features in SORD neuropathy. Record CJ, Pipis M, Blake J, Curro R, Lunn MP, Rossor AM, Laura M, Cortese A, Reilly MM. J Peripher Nerv Syst. 2022 Apr 13. doi: 10.1111/jns.12492. Online ahead of print.

A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement. Rebelo AP, Cortese A, Abraham A, Eshed-Eisenbach Y, Shner G, Vainshtein A, Buglo E, Camarena V, Gaidosh G, Shiekhattar R, Abreu L, Courel S, Burns DK, Bai Y, Bacon C, Feely SME, Castro D, Peles E, Reilly MM, Shy ME, Zuchner S. Brain. 2021 May 7;144(4):1197-1213. doi: 10.1093/brain/awab019.

Researchers used whole exome sequencing in three unrelated families with axonal Charcot-Marie-Tooth disease (CMT2) to identify a unique pathogenic variant causing CMT with marked upper limb involvement. CMT2 is a group of genetic neuropathies that primarily cause axonal degeneration (damage to the portion of the nerve that carries nerve impulses away from the cell body). The variant identified is in the CADM family of proteins, which mediate the contact and interaction between axons and the glia (non-neuronal cells that form myelin in the peripheral nervous system and support and protect neurons). The families studied all shared the same private variant in CADM3, Tyr172Cys. Findings were also confirmed in mouse studies. Researchers conclude that this abnormal axon-glia interaction is a disease-causing mechanism in CMT patients with CADM3 mutations. This is the first example that directly disrupting the interactions between glia and axons is sufficient to cause neuropathy.

A longitudinal and cross-sectional study of plasma neurofilament light chain concentration in Charcot-Marie-Tooth disease. Rossor AM, Kapoor M, Wellington H, Spaulding E, Sleigh JN, Burgess RW, Laura M, Zetterberg H, Bacha A, Wu X, Heslegrave A, Shy ME, Reilly MM. J Peripher Nerv Syst. 2021 Dec 1. doi: 10.1111/jns.12477. Online ahead of print.

A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity. Baty K, Farrugia ME, Hopton S, Falkous G, Schaefer AM, Stewart W, Willison HJ, Reilly MM, Blakely EL, Taylor RW, Ng YS. Neuromuscul Disord. 2021 Nov;31(11):1186-1193. doi: 10.1016/j.nmd.2021.05.014. Epub 2021 Jun 4.

A prospective study on surgical management of foot deformities in Charcot Marie tooth disease. Ramdharry G, Singh D, Gray J, Kozyra D, Skorupinska M, Reilly MM, Laurá M. J Peripher Nerv Syst. 2021 Jun;26(2):187-192. doi: 10.1111/jns.12437. Epub 2021 Mar 13.

A recurrent MORC2 mutation causes Charcot-Marie-Tooth disease type 2Z. Vujovic D, Cornblath DR, Scherer SS. J Peripher Nerv Syst. 2021 Apr 12. doi: 10.1111/jns.12443. Online ahead of print.

An approach to assessing immunoglobulin dependence in chronic inflammatory demyelinating inflammatory polyneuropathy. Kapoor M, Compton L, Rossor A, Hutton E, Manji H, Lunn M, Reilly M, Carr A. J Peripher Nerv Syst. 2021 Dec;26(4):461-468. doi: 10.1111/jns.12470. Epub 2021 Oct 20.

An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactions. Clark AJ, Kugathasan U, Baskozos G, Priestman DA, Fugger N, Lone MA, Othman A, Chu KH, Blesneac I, Wilson ER, Laurà M, Kalmar B, Greensmith L, Hornemann T, Platt FM, Reilly MM, Bennett DL. Cell Rep Med. 2021 Jul 21;2(7):100345. doi: 10.1016/j.xcrm.2021.100345. eCollection 2021 Jul 20.

Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities. McCray BA, Scherer SS. Neurotherapeutics. 2021 Oct 4. doi: 10.1007/s13311-021-01099-2. Online ahead of print.

In this review paper, two researchers associated with the Inherited Neuropathies Consortium offer an overview of Charcot-Marie-Tooth disease type 2 (CMT2), a group of genetic neuropathies that primarily cause axonal degeneration (damage to the portion of the nerve that carries nerve impulses away from the cell body) rather than demyelination (damage to the protective covering that surrounds nerve fibers). They review gene identification efforts over the past three decades and emerging treatment strategies. Promising strategies include specific approaches for single forms of neuropathy as well as more general approaches that have the potential to treat multiple types of neuropathy. The INC is particularly pleased because coauthor Brett Andrew McCray, MD, PhD of Johns Hopkins is a recent INC scholar who was supported by a Career Enhancement Award.

Cardiopulmonary exercise performance and factors associated with aerobic capacity in neuromuscular diseases. Ramdharry GM, Wallace A, Hennis P, Dewar E, Dudziec M, Jones K, Pietrusz A, Reilly MM, Hanna MG. Muscle Nerve. 2021 Dec;64(6):683-690. doi: 10.1002/mus.27423. Epub 2021 Oct 6.

Development and Validation of the Pediatric Charcot-Marie-Tooth Disease Quality of Life Outcome Measure. Ramchandren S, Wu TT, Finkel RS, Siskind CE, Feely SME, Burns J, Reilly MM, Estilow T, Shy ME; Childhood CMT Study Group. Ann Neurol. 2021 Feb;89(2):369-379. doi: 10.1002/ana.25966. Epub 2020 Dec 7.

Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders. Gilley J, Jackson O, Pipis M, Estiar MA, Al-Chalabi A, Danzi MC, van Eijk KR, Goutman SA, Harms MB, Houlden H, Iacoangeli A, Kaye J, Lima L; Queen Square Genomics, Ravits J, Rouleau GA, Schüle R, Xu J, Züchner S, Cooper-Knock J, Gan-Or Z, Reilly MM, Coleman MP. Elife. 2021 Nov 19;10:e70905. doi: 10.7554/eLife.70905. PMID: 34796871; PMCID: PMC8735862.

SARM1 is a protein with critical NAD-glycohydrolase (NADase) activity. This protein drives axon (nerve fiber) degeneration, a characteristic of many neurodegenerative diseases. In this study, researchers screened patient data for mutations associated with amyotrophic lateral sclerosis (ALS). They discovered disease-associated variant alleles that alter SARM1 function, hyperactivating the NADase activity that drives degeneration. The authors conclude that these may represent risk alleles for ALS and other motor nerve diseases. These findings highlight the role of axonal degeneration in motor neuron diseases. The study also provides a rationale for SARM1-directed therapeutic intervention.

Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature. Jurkute N, Shanmugarajah PD, Hadjivassiliou M, Higgs J, Vojcic M, Horrocks I, Nadjar Y, Touitou V, Lenaers G, Poh R, Acheson J, Robson AG, Raymond FL, Reilly MM, Yu-Wai-Man P, Moore AT, Webster AR, Arno G; Genomics England Research Consortium. Invest Ophthalmol Vis Sci. 2021 May 3;62(6):2. doi: 10.1167/iovs.62.6.2.

Loss of function MPZ mutation causes milder CMT1B neuropathy. Howard P, Feely SME, Grider T, Bacha A, Scarlato M, Fazio R, Quattrini A, Shy ME, Previtali SC. J Peripher Nerv Syst. 2021 May 7. doi: 10.1111/jns.12452. Online ahead of print.

MicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A. Wang H, Davison M, Wang K, Xia TH, Call KM, Luo J, Wu X, Zuccarino R, Bacha A, Bai Y, Gutmann L, Feely SME, Grider T, Rossor AM, Reilly MM, Shy ME, Svaren J. Neurology. 2021 Aug 3;97(5):e489-e500. doi: 10.1212/WNL.0000000000012266. Epub 2021 May 24.

Charcot-Marie-Tooth disease type 1A (CMT1A) is an inherited neurological disorder that affects the peripheral nerves of patients, causing weakness and wasting of the muscles of the lower legs, hand weakness, and sensory loss. To identify candidate biomarkers for clinical trials in CMT1A, researchers performed microRNA (miR) profiling on control and CMT1A plasma with the goal of determining whether microRNAs are elevated in affected individuals. Results confirmed elevated levels of several muscle-associated miRNAs (miR1, -133a, -133b, and -206, known as myomiRs) along with a set of miRs that are highly expressed in Schwann cells of peripheral nerves. Authors say the study provides Class III evidence that a set of plasma mIRs are elevated in patients with CMT1A.

Optic Neuropathy in Charcot-Marie-Tooth Disease. Hamedani AG, Wilson JA, Avery RA, Scherer SS. J Neuro Ophthalmol. 2021 Jun 1;41(2):233-238. doi: 10.1097/WNO.0000000000000965.

RFC1-related ataxia is a mimic of early multiple system atrophy. Sullivan R, Yau WY, Chelban V, Rossi S, Dominik N, O'Connor E, Hardy J, Wood N, Cortese A, Houlden H. J Neurol Neurosurg Psychiatry. 2021 Feb 9;92(4):444-6. doi: 10.1136/jnnp-2020-325092. Online ahead of print.

Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort. Cintra VP, Dohrn MF, Tomaselli PJ, Figueiredo FB, Marques SE, Camargos ST, Barbosa LSM, P Rebelo A, Abreu L, Danzi M, Marques W Jr, Züchner S. J Neurol Sci. 2021 Aug 15;427:117498. doi: 10.1016/j.jns.2021.117498. Epub 2021 May 18.

Heredity sensory neuropathies (HSNs) are rare neurological disorders where peripheral neurons and axons are affected, leading to delayed sensations of pain, delayed healing, infections, osteomyelitis, and infections. Researchers performed a whole genome sequencing (WGS) study of 23 unrelated Brazilian families diagnosed with hereditary sensory neuropathies. They detected pathogenic variants in 21.7% of families that caused symptoms such as congenital insensitivity to pain, sensory deficits, neuropathic pain, and recurrent ulcerations. Authors suggest that most of the cases could be explained by yet to be discovered genes or unusual alleles. They say that first mutational screen in a Brazilian HSN cohort offers insights for genotype-phenotype correlations, reducing misdiagnoses, and providing early treatment considerations.

Satisfaction with ankle foot orthoses in individuals with Charcot-Marie-Tooth disease. Zuccarino R, Anderson KM, Shy ME, Wilken JM. Muscle Nerve. 2021 Jan;63(1):40-45. doi: 10.1002/mus.27027. Epub 2020 Aug 26.

The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy. Spaulding EL, Hines TJ, Bais P, Tadenev ALD, Schneider R, Jewett D, Pattavina B, Pratt SL, Morelli KH, Stum MG, Hill DP, Gobet C, Pipis M, Reilly MM, Jennings MJ, Horvath R, Bai Y, Shy ME, Alvarez-Castelao B, Schuman EM, Bogdanik LP, Storkebaum E, Burgess RW. Science. 2021 Sep 3;373(6559):1156-1161. doi: 10.1126/science.abb3414. Epub 2021 Sep 1.

Researchers have identified a pathway common to several types of axonal peripheral neuropathies (APNs), including multiple forms of Charcot-Marie-Tooth (CMT) disease, and have identified a possible drug target that could help treat the disorder. The research was led by Robert W. Burgess, PhD, Emily Spaulding, and their team at The Jackson Laboratory in Maine. Researchers with the RDCRN’s Inherited Neuropathies Consortium (INC) contributed by providing patient material to add a human disease component to the team’s efforts. “The serum samples provide by the INC were a way for us to test whether the same mechanisms we found in our mouse models were also involved in patients,” says Burgess, senior author on the study. “As an unexpected bonus, it led to the identification of GDF15 as a possible biomarker, which is being investigated further.” The study, which was published in Science, was funded in part by the National Institute of Neurological Disorders and Stroke (NINDS), part of the National Institutes of Health, and featured in a recent NIH media advisory. APNs cause the body’s peripheral nerves to wither and degenerate, which makes them unable to send messages to the muscles or to transmit sensory signals back to the spinal cord. While usually not life-threatening, APNs typically result in some measure of disability. Genetic studies have shown that many APNs are caused by mutations that affect how proteins are built within cells. Proteins are made by first transcribing the DNA code into messenger RNA (mRNA). The mRNA is then transcribed by transfer RNA (tRNA) molecules that string together amino acids in the proper sequence, like building a train track. The mutations underlying APNs affect the enzymes responsible for adding amino acid blocks to tRNA. Previous work in flies showed that these mutations inhibit cells’ ability to make proteins. This causes stress within the motor neurons affected by APNs, particularly through a mechanism called the integrated stress response (ISR), ultimately leading to degeneration of nerve structures. Of the proteins previously implicated in the activation of the ISR, one of them, GCN2, had also been connected to defects in protein translation. Using a mouse model, the researchers looked at APN mice that were also missing GCN2. These mice began to develop symptoms of the disease around two weeks of age, but the disease did not progress much beyond the initial stages. When the APN mice were instead treated with a drug to stop GCN2 from working, they showed improvements in many symptoms.

A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele. Beecroft SJ, Cortese A, Sullivan R, Yau WY, Dyer Z, Wu TY, Mulroy E, Pelosi L, Rodrigues M, Taylor R, Mossman S, Leadbetter R, Cleland J, Anderson T, Ravenscroft G, Laing NG, Houlden H, Reilly MM, Roxburgh RH. Brain. 2020 Sep 1;143(9):2673-2680. doi: 10.1093/brain/awaa203.

A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot-Marie-Tooth disease. Edgar JR, Ho AK, Laurá M, Horvath R, Reilly MM, Luzio JP, Roberts RC. Acta Neuropathol Commun. 2020 Oct 15;8(1):165. doi: 10.1186/s40478-020-01043-z.

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores. Fridman V, Sillau S, Acsadi G, Bacon C, Dooley K, Burns J, Day J, Feely S, Finkel RS, Grider T, Gutmann L, Herrmann DN, Kirk CA, Knause SA, Laurá M, Lewis RA, Li J, Lloyd TE, Moroni I, Muntoni F, Pagliano E, Pisciotta C, Piscosquito G, Ramchandren S, Saporta M, Sadjadi R, Shy RR, Siskind CE, Sumner CJ, Walk D, Wilcox J, Yum SW, Züchner S, Scherer SS, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN). Neurology. 2020 Mar 3;94(9):e884-e896. doi: 10.1212/WNL.0000000000009035. Epub 2020 Feb 11.

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families. Scriba CK, Beecroft SJ, Clayton JS, Cortese A, Sullivan R, Yau WY, Dominik N, Rodrigues M, Walker E, Dyer Z, Wu TY, Davis MR, Chandler DC, Weisburd B, Houlden H, Reilly MM, Laing NG, Lamont PJ, Roxburgh RH, Ravenscroft G. Brain. 2020 Oct 1;143(10):2904-2910. doi: 10.1093/brain/awaa263.

Are we prepared for clinical trials in Charcot-Marie-Tooth disease?. Rossor AM, Shy ME, Reilly MM. Brain Res. 2020 Feb 15;1729:146625. doi: 10.1016/j.brainres.2019.146625. Epub 2019 Dec 30.

Assessing non-Mendelian inheritance in inherited axonopathies. Bis-Brewer DM, Gan-Or Z, Sleiman P; Inherited Neuropathy Consortium, Hakonarson H, Fazal S, Courel S, Cintra V, Tao F, Estiar MA, Tarnopolsky M, Boycott KM, Yoon G, Suchowersky O, Dupré N, Cheng A, Lloyd TE, Rouleau G, Schüle R, Züchner S. Genet Med. 2020 Dec;22(12):2114-2119. doi: 10.1038/s41436-020-0924-0. Epub 2020 Aug 3.

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA; Inherited Neuropathy Consortium, Isasi R, Khan A, Laurà M, Magri S, Pipis M, Pisciotta C, Powell E, Rossor AM, Saveri P, Sowden JE, Tozza S, Vandrovcova J, Dallman J, Grignani E, Marchioni E, Scherer SS, Tang B, Lin Z, Al-Ajmi A, Schüle R, Synofzik M, Maisonobe T, Stojkovic T, Auer-Grumbach M, Abdelhamed MA, Hamed SA, Zhang R, Manganelli F, Santoro L, Taroni F, Pareyson D, Houlden H, Herrmann DN, Reilly MM, Shy ME, Zhai RG, Zuchner S. Nat Genet. 2020 May;52(5):473-481. doi: 10.1038/s41588-020-0615-4. Epub 2020 May 4.

Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A. Franco A, Dang X, Walton EK, Ho JN, Zablocka B, Ly C, Miller TM, Baloh RH, Shy ME, Yoo AS, Dorn GW 2nd. Elife. 2020 Oct 19;9:e61119. doi: 10.7554/eLife.61119.

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion. Cortese A, Tozza S, Yau WY, Rossi S, Beecroft SJ, Jaunmuktane Z, Dyer Z, Ravenscroft G, Lamont PJ, Mossman S, Chancellor A, Maisonobe T, Pereon Y, Cauquil C, Colnaghi S, Mallucci G, Curro R, Tomaselli PJ, Thomas-Black G, Sullivan R, Efthymiou S, Rossor AM, Laurá M, Pipis M, Horga A, Polke J, Kaski D, Horvath R, Chinnery PF, Marques W, Tassorelli C, Devigili G, Leonardis L, Wood NW, Bronstein A, Giunti P, Züchner S, Stojkovic T, Laing N, Roxburgh RH, Houlden H, Reilly MM. Brain. 2020 Feb 1;143(2):480-490. doi: 10.1093/brain/awz418.

Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation. Saveri P, De Luca M, Nisi V, Pisciotta C, Romano R, Piscosquito G, Reilly MM, Polke JM, Cavallaro T, Fabrizi GM, Fossa P, Cichero E, Lombardi R, Lauria G, Magri S, Taroni F, Pareyson D, Bucci C. Cells. 2020 Apr 21;9(4):1028. doi: 10.3390/cells9041028.

Genetic modifiers and non-Mendelian aspects of CMT. Bis-Brewer DM, Fazal S, Züchner S. Brain Res. 2020 Jan 1;1726:146459. doi: 10.1016/j.brainres.2019.146459. Epub 2019 Sep 13.

Humans: the ultimate animal models. Reilly MM, Rossor AM. J Neurol Neurosurg Psychiatry. 2020 Nov;91(11):1132-1136. doi: 10.1136/jnnp-2020-323016. Epub 2020 Aug 7.

Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2. Deng S, Feely SME, Shi Y, Zhai H, Zhan L, Siddique T, Deng HX, Shy ME. Neuromolecular Med. 2020 Mar;22(1):68-72. doi: 10.1007/s12017-019-08564-4. Epub 2019 Aug 29.

Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic. Cortese A, Callegari I, Currò R, Vegezzi E, Colnaghi S, Versino M, Alfonsi E, Cosentino G, Valente E, Gana S, Tassorelli C, Pichiecchio A, Rossor AM, Bugiardini E, Biroli A, Di Capua D, Houlden H, Reilly MM. J Neurol Neurosurg Psychiatry. 2020 Nov;91(11):1237-1238. doi: 10.1136/jnnp-2020-323719. Epub 2020 Sep 17.

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study. Pipis M, Feely SME, Polke JM, Skorupinska M, Perez L, Shy RR, Laura M, Morrow JM, Moroni I, Pisciotta C, Taroni F, Vujovic D, Lloyd TE, Acsadi G, Yum SW, Lewis RA, Finkel RS, Herrmann DN, Day JW, Li J, Saporta M, Sadjadi R, Walk D, Burns J, Muntoni F, Ramchandren S, Horvath R, Johnson NE, Züchner S, Pareyson D, Scherer SS, Rossor AM, Shy ME, Reilly MM; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN). Brain. 2020 Dec 1;143(12):3589-3602. doi: 10.1093/brain/awaa323.

Prot2HG: a database of protein domains mapped to the human genome. Stanek D, Bis-Brewer DM, Saghira C, Danzi MC, Seeman P, Lassuthova P, Zuchner S. Database (Oxford). 2020 Jan 1;2020:baz161. doi: 10.1093/database/baz161.

RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy. Sullivan R, Yau WY, Chelban V, Rossi S, O'Connor E, Wood NW, Cortese A, Houlden H. Mov Disord. 2020 Jul;35(7):1277-1279. doi: 10.1002/mds.28074. Epub 2020 Apr 24.

Reliability of the Charcot-Marie-Tooth functional outcome measure. Bray P, Cornett KMD, Estilow T, Pareyson D, Zuccarino R, Skorupinska M, Pipis M, Sowden JE, Scherer S, Reilly MM, Shy ME, Herrmann DN, Burns J, Eichinger KJ. J Peripher Nerv Syst. 2020 Sep;25(3):288-291. doi: 10.1111/jns.12406. Epub 2020 Aug 26.

Charcot-Marie-Tooth (CMT) is a group of inherited, degenerative disorders affecting the nerves that travel to the feet and hands, causing pain, muscle weakness, and other symptoms. In order to assess disease severity and changes over time, researchers have developed a functional outcome measure called the CMT-FOM. This 13-item clinical outcome assessment tool measures physical ability in adults with Charcot-Marie-Tooth (CMT) disease. To assess inter-rater reliability of the tool, or the degree to which independent observers using the CMT-FOM agree, researchers trained six evaluators in its use. The evaluators then each used the CMT-FOM separately to evaluate 10 patient participants with genetically diagnosed CMT1A (the most common form of CMT) and their assessments were compared. Results indicated excellent inter-rater reliability. Researchers conclude that the CMT-FOM is a reliable clinical outcome assessment tool. CMT-FOM is important for natural history and clinical trial studies as it provides an evaluation based on functions that the patient performs in their hands and feet. It also allows a transition from the CMT Pediatric Scale (CMTPedS), a similar instrument for children with CMT.

The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME. Senderek J, Lassuthova P, Kabzińska D, Abreu L, Baets J, Beetz C, Braathen GJ, Brenner D, Dalton J, Dankwa L, Deconinck T, De Jonghe P, Dräger B, Eggermann K, Ellis M, Fischer C, Stojkovic T, Herrmann DN, Horvath R, Høyer H, Iglseder S, Kennerson M, Kinslechner K, Kohler JN, Kurth I, Laing NG, Lamont PJ, Wolfgang N L, Ludolph A, Marques W Jr, Nicholson G, Ong R, Petri S, Ravenscroft G, Rebelo A, Ricci G, Rudnik-Schöneborn S, Schirmacher A, Schlotter-Weigel B, Schoels L, Schüle R, Synofzik M, Francou B, Strom TM, Wagner J, Walk D, Wanschitz J, Weinmann D, Weishaupt J, Wiessner M, Windhager R, Young P, Züchner S, Toegel S, Seeman P, Kochański A, Auer-Grumbach M. Neurology. 2020 Dec 15;95(24):e3163-e3179. doi: 10.1212/WNL.0000000000011132. Epub 2020 Nov 3.

Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A. Wang H, Davison M, Wang K, Xia TH, Kramer M, Call K, Luo J, Wu X, Zuccarino R, Bacon C, Bai Y, Moran JJ, Gutmann L, Feely SME, Grider T, Rossor AM, Reilly MM, Svaren J, Shy ME. Ann Clin Transl Neurol. 2020 Jan;7(1):69-82. doi: 10.1002/acn3.50965. Epub 2019 Dec 12.

Validation of the Italian version of the Charcot-Marie-Tooth Health Index. Pisciotta C, Ciafaloni E, Zuccarino R, Calabrese D, Saveri P, Fenu S, Tramacere I, Genovese F, Dilek N, Johnson NE, Heatwole C, Herrmann DN, Pareyson D; ACT-CMT Study Group. J Peripher Nerv Syst. 2020 Sep;25(3):292-296. doi: 10.1111/jns.12397. Epub 2020 Jun 24.

Validation of the Italian version of the Charcot-Marie-Tooth disease Pediatric Scale. Zuccarino R, Prada V, Moroni I, Pagliano E, Foscan M, Robbiano G, Pisciotta C, Cornett K, Shy R, Schenone A, Pareyson D, Shy M, Burns J. J Peripher Nerv Syst. 2020 Jun;25(2):138-142. doi: 10.1111/jns.12383. Epub 2020 May 26.

A MT-ATP6 Mutation Causes a Slowly Progressive Myeloneuropathy. Bardakjian T, Scherer SS. J Neuromuscul Dis. 2019;6(3):385-387. doi: 10.3233/JND-190400.

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs). Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, Latour P, Solé G, Megarbane A, Horvath R, Ricci G, Choi BO, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A. Ann Neurol. 2019 Jul;86(1):55-67. doi: 10.1002/ana.25500. Epub 2019 May 27.

A network biology approach to unraveling inherited axonopathies. Bis-Brewer DM, Danzi MC, Wuchty S, Züchner S. Sci Rep. 2019 Feb 8;9(1):1692. doi: 10.1038/s41598-018-37119-z.

A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family. Dankwa L, Richardson J, Motley WW, Scavina M, Courel S, Bardakjian T, Züchner S, Scherer SS. Neuromuscul Disord. 2019 Feb;29(2):134-137. doi: 10.1016/j.nmd.2018.12.008. Epub 2018 Dec 21.

A recurrent GARS mutation causes distal hereditary motor neuropathy. Lee DC, Meyer-Schuman R, Bacon C, Shy ME, Antonellis A, Scherer SS. J Peripher Nerv Syst. 2019 Dec;24(4):320-323. doi: 10.1111/jns.12353. Epub 2019 Nov 22.

Antibodies to neurofascin, contactin-1, and contactin-associated protein 1 in CIDP: Clinical relevance of IgG isotype. Cortese A, Lombardi R, Briani C, Callegari I, Benedetti L, Manganelli F, Luigetti M, Ferrari S, Clerici AM, Marfia GA, Rigamonti A, Carpo M, Fazio R, Corbo M, Mazzeo A, Giannini F, Cosentino G, Zardini E, Currò R, Gastaldi M, Vegezzi E, Alfonsi E, Berardinelli A, Kouton L, Manso C, Giannotta C, Doneddu P, Dacci P, Piccolo L, Ruiz M, Salvalaggio A, De Michelis C, Spina E, Topa A, Bisogni G, Romano A, Mariotto S, Mataluni G, Cerri F, Stancanelli C, Sabatelli M, Schenone A, Marchioni E, Lauria G, Nobile-Orazio E, Devaux J, Franciotta D. Neurol Neuroimmunol Neuroinflamm. 2019 Nov 21;7(1):e639. doi: 10.1212/NXI.0000000000000639. Print 2020 Jan.

Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H. Nat Genet. 2019 May;51(5):920. doi: 10.1038/s41588-019-0422-y.

Balance impairment in pediatric charcot-marie-tooth disease. Estilow T, Glanzman AM, Burns J, Harrington A, Cornett K, Menezes MP, Shy R, Moroni I, Pagliano E, Pareyson D, Bhandari T, Muntoni F, Laurá M, Reilly MM, Finkel RS, Eichinger KJ, Herrmann DN, Troutman G, Bray P, Halaki M, Shy ME, Yum SW; CMTPedS STUDY GROUP. Muscle Nerve. 2019 Sep;60(3):242-249. doi: 10.1002/mus.26500. Epub 2019 May 15.

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia. Wagner M, Osborn DPS, Gehweiler I, Nagel M, Ulmer U, Bakhtiari S, Amouri R, Boostani R, Hentati F, Hockley MM, Hölbling B, Schwarzmayr T, Karimiani EG, Kernstock C, Maroofian R, Müller-Felber W, Ozkan E, Padilla-Lopez S, Reich S, Reichbauer J, Darvish H, Shahmohammadibeni N, Tafakhori A, Vill K, Zuchner S, Kruer MC, Winkelmann J, Jamshidi Y, Schüle R. Nat Commun. 2019 Oct 21;10(1):4790. doi: 10.1038/s41467-019-12620-9.

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H. Nat Genet. 2019 Apr;51(4):649-658. doi: 10.1038/s41588-019-0372-4. Epub 2019 Mar 29.

Charcot-Marie-Tooth disease and related disorders: an evolving landscape. Laurá M, Pipis M, Rossor AM, Reilly MM. Curr Opin Neurol. 2019 Oct;32(5):641-650. doi: 10.1097/WCO.0000000000000735.

Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis. Kapoor M, Rossor AM, Laura M, Reilly MM. J Neuromuscul Dis. 2019;6(2):189-199. doi: 10.3233/JND-180371.

Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1. Kugathasan U, Evans MRB, Morrow JM, Sinclair CDJ, Thornton JS, Yousry TA, Hornemann T, Suriyanarayanan S, Owusu-Ansah K, Lauria G, Lombardi R, Polke JM, Wilson E, Bennett DLH, Houlden H, Hanna MG, Blake JC, Laura M, Reilly MM. J Neurol Neurosurg Psychiatry. 2019 Aug;90(8):895-906. doi: 10.1136/jnnp-2018-320198. Epub 2019 Apr 17.

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications. Rattay TW, Lindig T, Baets J, Smets K, Deconinck T, Söhn AS, Hörtnagel K, Eckstein KN, Wiethoff S, Reichbauer J, Döbler-Neumann M, Krägeloh-Mann I, Auer-Grumbach M, Plecko B, Münchau A, Wilken B, Janauschek M, Giese AK, De Bleecker JL, Ortibus E, Debyser M, Lopez de Munain A, Pujol A, Bassi MT, D'Angelo MG, De Jonghe P, Züchner S, Bauer P, Schöls L, Schüle R. Brain. 2019 Jun 1;142(6):1561-1572. doi: 10.1093/brain/awz102.

Glutathione S-Transferase Regulates Mitochondrial Populations in Axons through Increased Glutathione Oxidation. Smith GA, Lin TH, Sheehan AE, Van der Goes van Naters W, Neukomm LJ, Graves HK, Bis-Brewer DM, Züchner S, Freeman MR. Neuron. 2019 Jul 3;103(1):52-65.e6. doi: 10.1016/j.neuron.2019.04.017. Epub 2019 May 14.

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study. Tao F, Beecham GW, Rebelo AP, Blanton SH, Moran JJ, Lopez-Anido C, Svaren J, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, Day JW, Sumner CJ, Lloyd TE, Li J, Yum SW, Taroni F, Baas F, Choi BO, Pareyson D, Scherer SS, Reilly MM, Shy ME, Züchner S; Inherited Neuropathy Consortium. J Neuromuscul Dis. 2019;6(2):201-211. doi: 10.3233/JND-190377.

Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges. Pipis M, Rossor AM, Laura M, Reilly MM. Nat Rev Neurol. 2019 Nov;15(11):644-656. doi: 10.1038/s41582-019-0254-5. Epub 2019 Oct 3.

POLG mutations presenting as Charcot-Marie-Tooth disease. Phillips J, Courel S, Rebelo AP, Bis-Brewer DM, Bardakjian T, Dankwa L, Hamedani AG, Züchner S, Scherer SS. J Peripher Nerv Syst. 2019 Jun;24(2):213-218. doi: 10.1111/jns.12313. Epub 2019 Apr 10.

Plasma neurofilament light chain concentration is increased and correlates with the severity of neuropathy in hereditary transthyretin amyloidosis. Kapoor M, Foiani M, Heslegrave A, Zetterberg H, Lunn MP, Malaspina A, Gillmore JD, Rossor AM, Reilly MM. J Peripher Nerv Syst. 2019 Dec;24(4):314-319. doi: 10.1111/jns.12350. Epub 2019 Oct 14.

Schwann cell transcript biomarkers for hereditary neuropathy skin biopsies. Svaren J, Moran JJ, Wu X, Zuccarino R, Bacon C, Bai Y, Ramesh R, Gutmann L, Anderson DM, Pavelec D, Shy ME. Ann Neurol. 2019 Jun;85(6):887-898. doi: 10.1002/ana.25480. Epub 2019 Apr 22.

Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A. Tao F, Beecham GW, Rebelo AP, Svaren J, Blanton SH, Moran JJ, Lopez-Anido C, Morrow JM, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, Day JW, Sumner CJ, Lloyd TE, Li J, Yum SW, Taroni F, Baas F, Choi BO, Pareyson D, Scherer SS, Reilly MM, Shy ME, Züchner S; Inherited Neuropathy Consortium. Ann Neurol. 2019 Mar;85(3):316-330. doi: 10.1002/ana.25426.

Yield of next-generation neuropathy gene panels in axonal neuropathies. Lee DC, Dankwa L, Edmundson C, Cornblath DR, Scherer SS. J Peripher Nerv Syst. 2019 Dec;24(4):324-329. doi: 10.1111/jns.12356. Epub 2019 Nov 19.

A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family. Dankwa L, Richardson J, Motley WW, Züchner S, Scherer SS. J Peripher Nerv Syst. 2018 Mar;23(1):36-39. doi: 10.1111/jns.12248. Epub 2018 Feb 6.

Antisense oligonucleotides offer hope to patients with Charcot-Marie-Tooth disease type 1A. Shy ME. J Clin Invest. 2018 Jan 2;128(1):110-112. doi: 10.1172/JCI98617. Epub 2017 Dec 4.

Carpal tunnel syndrome in inherited neuropathies: A retrospective survey. Panosyan FB, Kirk CA, Marking D, Reilly MM, Scherer SS, Shy ME, Herrmann DN. Muscle Nerve. 2018 Mar;57(3):388-394. doi: 10.1002/mus.25742. Epub 2017 Jul 21.

Charcot Marie Tooth disease type 4J with complex central nervous system features. Orengo JP, Khemani P, Day JW, Li J, Siskind CE. Ann Clin Transl Neurol. 2018 Jan 22;5(2):222-225. doi: 10.1002/acn3.525. eCollection 2018 Feb.

Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges. Jerath NU, Mankodi A, Crawford TO, Grunseich C, Baloui H, Nnamdi-Emeratom C, Schindler AB, Heiman-Patterson T, Chrast R, Shy ME. Muscle Nerve. 2018 May;57(5):749-755. doi: 10.1002/mus.25981. Epub 2017 Oct 24.

Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy. Silwal A, Pitt M, Phadke R, Mankad K, Davison JE, Rossor A, DeVile C, Reilly MM, Manzur AY, Muntoni F, Munot P. Neuromuscul Disord. 2018 Sep;28(9):757-765. doi: 10.1016/j.nmd.2018.06.001. Epub 2018 Jun 12.

Development and validation of the Charcot-Marie-Tooth Disease Infant Scale. Mandarakas MR, Menezes MP, Rose KJ, Shy R, Eichinger K, Foscan M, Estilow T, Kennedy R, Herbert K, Bray P, Refshauge K, Ryan MM, Yiu EM, Farrar M, Sampaio H, Moroni I, Pagliano E, Pareyson D, Yum SW, Herrmann DN, Acsadi G, Shy ME, Burns J, Sanmaneechai O. Brain. 2018 Dec 1;141(12):3319-3330. doi: 10.1093/brain/awy280.

IGHMBP2 mutation associated with organ-specific autonomic dysfunction. Tomaselli PJ, Horga A, Rossor AM, Jaunmuktane Z, Cortese A, Blake JC, Zarate-Lopez N, Houlden H, Reilly MM. Neuromuscul Disord. 2018 Dec;28(12):1012-1015. doi: 10.1016/j.nmd.2018.08.010. Epub 2018 Aug 29.

Insights into the genotype-phenotype correlation and molecular function of SLC25A46. Abrams AJ, Fontanesi F, Tan NBL, Buglo E, Campeanu IJ, Rebelo AP, Kornberg AJ, Phelan DG, Stark Z, Zuchner S. Hum Mutat. 2018 Dec;39(12):1995-2007. doi: 10.1002/humu.23639. Epub 2018 Sep 17.

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. Lassuthova P, Rebelo AP, Ravenscroft G, Lamont PJ, Davis MR, Manganelli F, Feely SM, Bacon C, Brožková DŠ, Haberlova J, Mazanec R, Tao F, Saghira C, Abreu L, Courel S, Powell E, Buglo E, Bis DM, Baxter MF, Ong RW, Marns L, Lee YC, Bai Y, Isom DG, Barro-Soria R, Chung KW, Scherer SS, Larsson HP, Laing NG, Choi BO, Seeman P, Shy ME, Santoro L, Zuchner S. Am J Hum Genet. 2018;102(3):505-514. PMID: 29499166, PMCID: PMC5985288.

Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease. Shy M, Rebelo AP, Feely SM, Abreu LA, Tao F, Swenson A, Bacon C, Zuchner S. J Neurol Neurosurg Psychiatry. 2018 Mar;89(3):313-315. doi: 10.1136/jnnp-2017-315929. Epub 2017 Jul 28.

Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination. Hu B, McCollum M, Ravi V, Arpag S, Moiseev D, Castoro R, Mobley B, Burnette B, Siskind C, Day J, Yawn R, Feely S, Li Y, Yan Q, Shy M, Li J. Ann Neurol. 2018 Apr;83(4):756-770. doi: 10.1002/ana.25198. Epub 2018 Mar 30.

Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B. Bai Y, Wu X, Brennan KM, Wang DS, D'Antonio M, Moran J, Svaren J, Shy ME. Ann Clin Transl Neurol. 2018 Mar 10;5(4):445-455. doi: 10.1002/acn3.543. eCollection 2018 Apr.

Neurofascin antibodies in autoimmune, genetic, and idiopathic neuropathies. Burnor E, Yang L, Zhou H, Patterson KR, Quinn C, Reilly MM, Rossor AM, Scherer SS, Lancaster E. Neurology. 2018 Jan 2;90(1):e31-e38. doi: 10.1212/WNL.0000000000004773. Epub 2017 Nov 29.

Neurofilament light, biomarkers, and Charcot-Marie-Tooth disease. Pareyson D, Shy ME. Neurology. 2018 Feb 6;90(6):257-259. doi: 10.1212/WNL.0000000000004936. Epub 2018 Jan 10.

Plasma neurofilament light chain concentration in the inherited peripheral neuropathies. Sandelius Å, Zetterberg H, Blennow K, Adiutori R, Malaspina A, Laura M, Reilly MM, Rossor AM. Neurology. 2018 Feb 6;90(6):e518-e524. doi: 10.1212/WNL.0000000000004932. Epub 2018 Jan 10.

Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease. Laurá M, Singh D, Ramdharry G, Morrow J, Skorupinska M, Pareyson D, Burns J, Lewis RA, Scherer SS, Herrmann DN, Cullen N, Bradish C, Gaiani L, Martinelli N, Gibbons P, Pfeffer G, Phisitkul P, Wapner K, Sanders J, Flemister S, Shy ME, Reilly MM; Inherited Neuropathies Consortium. Muscle Nerve. 2018 Feb;57(2):255-259. doi: 10.1002/mus.25724. Epub 2017 Jul 7.

SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. Rebelo AP, Saade D, Pereira CV, Farooq A, Huff TC, Abreu L, Moraes CT, Mnatsakanova D, Mathews K, Yang H, Schon EA, Zuchner S, Shy ME. Brain. 2018 Mar 1;141(3):662-672. doi: 10.1093/brain/awx369.

Somatotopic heat pain thresholds and intraepidermal nerve fibers in health. Davies JL, Engelstad JK Sr,, E Gove L, Linbo LK, Carter RE, Lynch C, Staff NP, Klein CJ, Dyck PJB, Herrmann DN, Dyck PJ. Muscle Nerve. 2018 Oct;58(4):509-516. doi: 10.1002/mus.26128. Epub 2018 Apr 20.

Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy. Abbott JA, Meyer-Schuman R, Lupo V, Feely S, Mademan I, Oprescu SN, Griffin LB, Alberti MA, Casasnovas C, Aharoni S, Basel-Vanagaite L, Züchner S, De Jonghe P, Baets J, Shy ME, Espinós C, Demeler B, Antonellis A, Francklyn C. Hum Mutat. 2018 Mar;39(3):415-432. doi: 10.1002/humu.23380. Epub 2017 Dec 26.

The Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM). Eichinger K, Burns J, Cornett K, Bacon C, Shepherd ML, Mountain J, Sowden J, Shy R, Shy ME, Herrmann DN. Neurology. 2018 Oct 9;91(15):e1381-e1384. doi: 10.1212/WNL.0000000000006323. Epub 2018 Sep 19.

The Charcot-Marie-Tooth Health Index: Evaluation of a Patient-Reported Outcome. Johnson NE, Heatwole C, Creigh P, McDermott MP, Dilek N, Hung M, Bounsanga J, Tang W, Shy ME, Herrmann DN. Ann Neurol. 2018 Aug;84(2):225-233. doi: 10.1002/ana.25282. Epub 2018 Aug 29.

Unique clinical and neurophysiologic profile of a cohort of children with CMTX3. Kanhangad M, Cornett K, Brewer MH, Nicholson GA, Ryan MM, Smith RL, Subramanian GM, Young HK, Züchner S, Kennerson ML, Burns J, Menezes MP. Neurology. 2018 May 8;90(19):e1706-e1710. doi: 10.1212/WNL.0000000000005479. Epub 2018 Apr 6.

Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A. Morrow JM, Evans MRB, Grider T, Sinclair CDJ, Thedens D, Shah S, Yousry TA, Hanna MG, Nopoulos P, Thornton JS, Shy ME, Reilly MM. Neurology. 2018 Sep 18;91(12):e1125-e1129. doi: 10.1212/WNL.0000000000006214. Epub 2018 Aug 17.

Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser. Saghira C, Bis DM, Stanek D, Strickland A, Herrmann DN, Reilly MM, Scherer SS, Shy ME; Inherited Neuropathy Consortium, Züchner S. Hum Mutat. 2018 May;39(5):635-642. doi: 10.1002/humu.23412. Epub 2018 Mar 14.

A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder. Tomaselli PJ, Rossor AM, Horga A, Laura M, Blake JC, Houlden H, Reilly MM. J Peripher Nerv Syst. 2017 Dec;22(4):460-463. doi: 10.1111/jns.12235. Epub 2017 Sep 11.

A human cellular model to study peripheral myelination and demyelinating neuropathies. Saporta MA, Shy ME. Brain. 2017 Apr 1;140(4):856-859. doi: 10.1093/brain/awx048.

A novel mutation in the FGD4 gene causing Charcot-Marie-Tooth disease. Zis P, Reilly MM, Rao DG, Tomaselli P, Rossor AM, Hadjivassiliou M. J Peripher Nerv Syst. 2017 Sep;22(3):224-225. doi: 10.1111/jns.12222.

A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy. Tsai PC, Soong BW, Mademan I, Huang YH, Liu CR, Hsiao CT, Wu HT, Liu TT, Liu YT, Tseng YT, Lin KP, Yang UC, Chung KW, Choi BO, Nicholson GA, Kennerson ML, Chan CC, De Jonghe P, Cheng TH, Liao YC, Züchner S, Baets J, Lee YC. Brain. 2017 May 1;140(5):1252-1266. doi: 10.1093/brain/awx058.

A study of physical activity comparing people with Charcot-Marie-Tooth disease to normal control subjects. Ramdharry GM, Pollard AJ, Grant R, Dewar EL, Laurá M, Moore SA, Hallsworth K, Ploetz T, Trenell MI, Reilly MM. Disabil Rehabil. 2017 Aug;39(17):1753-1758. doi: 10.1080/09638288.2016.1211180. Epub 2016 Aug 16.

Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A. Fledrich R, Mannil M, Leha A, Ehbrecht C, Solari A, Pelayo-Negro AL, Berciano J, Schlotter-Weigel B, Schnizer TJ, Prukop T, Garcia-Angarita N, Czesnik D, Haberlová J, Mazanec R, Paulus W, Beissbarth T, Walter MC, Triaal C, Hogrel JY, Dubourg O, Schenone A, Baets J, De Jonghe P, Shy ME, Horvath R, Pareyson D, Seeman P, Young P, Sereda MW. J Neurol Neurosurg Psychiatry. 2017 Nov;88(11):941-952. doi: 10.1136/jnnp-2017-315721. Epub 2017 Aug 31.

CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis. Hengel H, Magee A, Mahanjah M, Vallat JM, Ouvrier R, Abu-Rashid M, Mahamid J, Schüle R, Schulze M, Krägeloh-Mann I, Bauer P, Züchner S, Sharkia R, Schöls L. Neurol Genet. 2017 Mar 22;3(2):e144. doi: 10.1212/NXG.0000000000000144. eCollection 2017 Apr.

Charcot-Marie-Tooth Disease Type 1A: Influence of Body Mass Index on Nerve Conduction Studies and on the Charcot-Marie-Tooth Examination Score. Jerath NU, Shy ME. J Clin Neurophysiol. 2017 Nov;34(6):508-511. doi: 10.1097/WNP.0000000000000415.

Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation. Jerath NU, Shy ME. Muscle Nerve. 2017 Dec;56(6):1092-1095. doi: 10.1002/mus.25600. Epub 2017 Apr 29.

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1). Panosyan FB, Laura M, Rossor AM, Pisciotta C, Piscosquito G, Burns J, Li J, Yum SW, Lewis RA, Day J, Horvath R, Herrmann DN, Shy ME, Pareyson D, Reilly MM, Scherer SS; Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN). Neurology. 2017 Aug 29;89(9):927-935. doi: 10.1212/WNL.0000000000004296. Epub 2017 Aug 2.

Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death. Jacquier A, Delorme C, Belotti E, Juntas-Morales R, Solé G, Dubourg O, Giroux M, Maurage CA, Castellani V, Rebelo A, Abrams A, Züchner S, Stojkovic T, Schaeffer L, Latour P. Acta neuropathologica communications. 2017;5(1):55. PMID: 28709447, PMCID: PMC5513089.

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations. Liao C, Ashley N, Diot A, Morten K, Phadwal K, Williams A, Fearnley I, Rosser L, Lowndes J, Fratter C, Ferguson DJ, Vay L, Quaghebeur G, Moroni I, Bianchi S, Lamperti C, Downes SM, Sitarz KS, Flannery PJ, Carver J, Dombi E, East D, Laura M, Reilly MM, Mortiboys H, Prevo R, Campanella M, Daniels MJ, Zeviani M, Yu-Wai-Man P, Simon AK, Votruba M, Poulton J. Neurology. 2017 Jan 10;88(2):131-142. doi: 10.1212/WNL.0000000000003491. Epub 2016 Dec 14.

Enhancements to the RDCRN Contact Registry for the Inherited Neuropathies Consortium. Hainline C, Rizzo D, Shy ME, Inherited Neuropathies Consortium, Rare Diseases Clinical Research Network Data Management and Coordinating Center. Poster presented at Peripheral Nerve Society Annual Meeting; Jul. 8-12, 2017; Sitges, Spain.

Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease. Horga A, Laurà M, Jaunmuktane Z, Jerath NU, Gonzalez MA, Polke JM, Poh R, Blake JC, Liu YT, Wiethoff S, Bettencourt C, Lunn MP, Manji H, Hanna MG, Houlden H, Brandner S, Züchner S, Shy M, Reilly MM. J Neurol Neurosurg Psychiatry. 2017 Jul;88(7):575-585. doi: 10.1136/jnnp-2016-315077. Epub 2017 May 13.

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial. Schöls L, Rattay TW, Martus P, Meisner C, Baets J, Fischer I, Jägle C, Fraidakis MJ, Martinuzzi A, Saute JA, Scarlato M, Antenora A, Stendel C, Höflinger P, Lourenco CM, Abreu L, Smets K, Paucar M, Deconinck T, Bis DM, Wiethoff S, Bauer P, Arnoldi A, Marques W, Jardim LB, Hauser S, Criscuolo C, Filla A, Züchner S, Bassi MT, Klopstock T, De Jonghe P, Björkhem I, Schüle R. Brain. 2017;140(12):3112-3127. PMID:29126212, PMCID: PMC5841036.

Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression. Rocha N, Bulger DA, Frontini A, Titheradge H, Gribsholt SB, Knox R, Page M, Harris J, Payne F, Adams C, Sleigh A, Crawford J, Gjesing AP, Bork-Jensen J, Pedersen O, Barroso I, Hansen T, Cox H, Reilly M, Rossor A, Brown RJ, Taylor SI, McHale D, Armstrong M, Oral EA, Saudek V, O'Rahilly S, Maher ER, Richelsen B, Savage DB, Semple RK. Elife. 2017 Apr 19;6:e23813. doi: 10.7554/eLife.23813.

Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease. Kalmar B, Innes A, Wanisch K, Kolaszynska AK, Pandraud A, Kelly G, Abramov AY, Reilly MM, Schiavo G, Greensmith L. Hum Mol Genet. 2017 Sep 1;26(17):3313-3326. doi: 10.1093/hmg/ddx216.

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT. Tomaselli PJ, Rossor AM, Horga A, Jaunmuktane Z, Carr A, Saveri P, Piscosquito G, Pareyson D, Laura M, Blake JC, Poh R, Polke J, Houlden H, Reilly MM. Neurology. 2017 Apr 11;88(15):1445-1453. doi: 10.1212/WNL.0000000000003819. Epub 2017 Mar 10.

Natural history of Charcot-Marie-Tooth disease during childhood. Cornett KMD, Menezes MP, Shy RR, Moroni I, Pagliano E, Pareyson D, Estilow T, Yum SW, Bhandari T, Muntoni F, Laura M, Reilly MM, Finkel RS, Eichinger KJ, Herrmann DN, Bray P, Halaki M, Shy ME, Burns J; CMTPedS Study Group. Ann Neurol. 2017 Sep;82(3):353-359. doi: 10.1002/ana.25009.

Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI. Manganelli F, Parisi S, Nolano M, Tao F, Paladino S, Pisciotta C, Tozza S, Nesti C, Rebelo AP, Provitera V, Santorelli FM, Shy ME, Russo T, Zuchner S, Santoro L. Neurology. 2017 May 30;88(22):2132-2140. doi: 10.1212/WNL.0000000000003992. Epub 2017 May 3.

PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia. Ozes B, Karagoz N, Schüle R, Rebelo A, Sobrido MJ, Harmuth F, Synofzik M, Pascual SIP, Colak M, Ciftci-Kavaklioglu B, Kara B, Ordóñez-Ugalde A, Quintáns B, Gonzalez MA, Soysal A, Zuchner S, Battaloglu E. Clin Genet. 2017 Nov;92(5):534-539. doi: 10.1111/cge.13008. Epub 2017 Apr 19.

PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E. Wang DS, Wu X, Bai Y, Zaidman C, Grider T, Kamholz J, Lupski JR, Connolly AM, Shy ME. Ann Clin Transl Neurol. 2017 Mar 12;4(4):236-245. doi: 10.1002/acn3.395. eCollection 2017 Apr.

Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene. Rossor AM, Morrow JM, Polke JM, Murphy SM, Houlden H; INC-RDCRC, Laura M, Manji H, Blake J, Reilly MM. Neuromuscul Disord. 2017 Jan;27(1):50-56. doi: 10.1016/j.nmd.2016.10.001. Epub 2016 Oct 8.

Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias. Bis DM, Schüle R, Reichbauer J, Synofzik M, Rattay TW, Soehn A, de Jonghe P, Schöls L, Züchner S. Mol Genet Genomic Med. 2017 Apr 5;5(3):280-286. doi: 10.1002/mgg3.285. eCollection 2017 May.

A novel missense mutation of CMT2P alters transcription machinery. Hu B, Arpag S, Zuchner S, Li J. Ann Neurol. 2016 Dec;80(6):834-845. doi: 10.1002/ana.24776. Epub 2016 Sep 27.

A proposed dosing algorithm for the individualized dosing of human immunoglobulin in chronic inflammatory neuropathies. Lunn MP, Ellis L, Hadden RD, Rajabally YA, Winer JB, Reilly MM. J Peripher Nerv Syst. 2016 Mar;21(1):33-7. doi: 10.1111/jns.12158.

Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX). Perez-Siles G, Grant A, Ellis M, Ly C, Kidambi A, Khalil M, Llanos RM, Fontaine SL, Strickland AV, Züchner S, Bermeo S, Neist E, Brennan-Speranza TC, Takata RI, Speck-Martins CE, Mercer JF, Nicholson GA, Kennerson ML. Metallomics. 2016 Sep 1;8(9):981-92. doi: 10.1039/c6mt00082g. Epub 2016 Jun 13.

Charcot-marie-tooth disease type 1X in women: Electrodiagnostic findings. Jerath NU, Gutmann L, Reddy CG, Shy ME. Muscle Nerve. 2016 Oct;54(4):728-32. doi: 10.1002/mus.25077. Epub 2016 Jul 4.

Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region. Vallat JM, Nizon M, Magee A, Isidor B, Magy L, Péréon Y, Richard L, Ouvrier R, Cogné B, Devaux J, Zuchner S, Mathis S. J Neuropathol Exp Neurol. 2016 Dec 1;75(12):1155-1159. doi: 10.1093/jnen/nlw093.

Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy. Rebelo AP, Abrams AJ, Cottenie E, Horga A, Gonzalez M, Bis DM, Sanchez-Mejias A, Pinto M, Buglo E, Markel K, Prince J, Laura M, Houlden H, Blake J, Woodward C, Sweeney MG, Holton JL, Hanna M, Dallman JE, Auer-Grumbach M, Reilly MM, Zuchner S. Am J Hum Genet. 2016; 98(4):597-614. PMID: 27040688, PMCID: PMC4833435.

De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease. Motley WW, Palaima P, Yum SW, Gonzalez MA, Tao F, Wanschitz JV, Strickland AV, Löscher WN, De Vriendt E, Koppi S, Medne L, Janecke AR, Jordanova A, Zuchner S, Scherer SS. Brain. 2016 Jun;139(Pt 6):1649-56. doi: 10.1093/brain/aww055. Epub 2016 Mar 23.

Gene therapy, CMT1X, and the inherited neuropathies. Shy ME. Proc Natl Acad Sci U S A. 2016 Apr 26;113(17):4552-4. doi: 10.1073/pnas.1604005113. Epub 2016 Apr 14.

LRSAM1 lessons. Shy M. Ann Neurol. 2016 Dec;80(6):821-822. doi: 10.1002/ana.24817.

MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs. Albulym OM, Kennerson ML, Harms MB, Drew AP, Siddell AH, Auer-Grumbach M, Pestronk A, Connolly A, Baloh RH, Zuchner S, Reddel SW, Nicholson GA. Ann Neurol. 2016 Mar;79(3):419-27. doi: 10.1002/ana.24575. Epub 2016 Jan 13.

MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study. Morrow JM, Sinclair CD, Fischmann A, Machado PM, Reilly MM, Yousry TA, Thornton JS, Hanna MG. Lancet Neurol. 2016 Jan;15(1):65-77. doi: 10.1016/S1474-4422(15)00242-2. Epub 2015 Nov 6.

Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum. Mademan I, Harmuth F, Giordano I, Timmann D, Magri S, Deconinck T, Claaßen J, Jokisch D, Genc G, Di Bella D, Romito S, Schüle R, Züchner S, Taroni F, Klockgether T, Schöls L, De Jonghe P, Bauer P, Consortium E, Baets J, Synofzik M. Brain. 2016 Aug;139(Pt 8):e46. doi: 10.1093/brain/aww115. Epub 2016 May 19.

Nerve conduction velocity in CMT1A: what else can we tell?. Manganelli F, Pisciotta C, Reilly MM, Tozza S, Schenone A, Fabrizi GM, Cavallaro T, Vita G, Padua L, Gemignani F, Laurà M, Hughes RA, Solari A, Pareyson D, Santoro L; CMT-TRIAAL and CMT-TRAUK Group. Eur J Neurol. 2016 Oct;23(10):1566-71. doi: 10.1111/ene.13079. Epub 2016 Jul 14.

Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease. Cornett KM, Menezes MP, Bray P, Halaki M, Shy RR, Yum SW, Estilow T, Moroni I, Foscan M, Pagliano E, Pareyson D, Laurá M, Bhandari T, Muntoni F, Reilly MM, Finkel RS, Sowden J, Eichinger KJ, Herrmann DN, Shy ME, Burns J; Inherited Neuropathies Consortium. JAMA Neurol. 2016 Jun 1;73(6):645-51. doi: 10.1001/jamaneurol.2016.0171.

Plasma neurofilament heavy chain is not a useful biomarker in Charcot-Marie-Tooth disease. Rossor AM, Lu CH, Petzold A, Malaspina A, Laura M, Greensmith L, Reilly MM. Muscle Nerve. 2016 Jun;53(6):972-5. doi: 10.1002/mus.25124. Epub 2016 Apr 27.

Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies. Auer-Grumbach M, Toegel S, Schabhüttl M, Weinmann D, Chiari C, Bennett DLH, Beetz C, Klein D, Andersen PM, Böhme I, Fink-Puches R, Gonzalez M, Harms MB, Motley W, Reilly MM, Renner W, Rudnik-Schöneborn S, Schlotter-Weigel B, Themistocleous AC, Weishaupt JH, Ludolph AC, Wieland T, Tao F, Abreu L, Windhager R, Zitzelsberger M, Strom TM, Walther T, Scherer SS, Züchner S, Martini R, Senderek J. Am J Hum Genet. 2016 Sep 1;99(3):607-623. doi: 10.1016/j.ajhg.2016.07.008.

Recent advances in the genetic neuropathies. Rossor AM, Tomaselli PJ, Reilly MM. Curr Opin Neurol. 2016 Oct;29(5):537-48. doi: 10.1097/WCO.0000000000000373.

Rydel-Seiffer fork revisited: Beyond a simple case of black and white. Panosyan FB, Mountain JM, Reilly MM, Shy ME, Herrmann DN. Neurology. 2016 Aug 16;87(7):738-40. doi: 10.1212/WNL.0000000000002991. Epub 2016 Jul 13.

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome. Horga A, Tomaselli PJ, Gonzalez MA, Laurà M, Muntoni F, Manzur AY, Hanna MG, Blake JC, Houlden H, Züchner S, Reilly MM. Neurology. 2016 Oct 11;87(15):1607-1612. doi: 10.1212/WNL.0000000000003212. Epub 2016 Sep 14.

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study. Synofzik M, Smets K, Mallaret M, Di Bella D, Gallenmüller C, Baets J, Schulze M, Magri S, Sarto E, Mustafa M, Deconinck T, Haack T, Züchner S, Gonzalez M, Timmann D, Stendel C, Klopstock T, Durr A, Tranchant C, Sturm M, Hamza W, Nanetti L, Mariotti C, Koenig M, Schöls L, Schüle R, de Jonghe P, Anheim M, Taroni F, Bauer P. Brain. 2016 May;139(Pt 5):1378-93. doi: 10.1093/brain/aww079. Epub 2016 Apr 17.

Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4). Piscosquito G, Saveri P, Magri S, Ciano C, Gandioli C, Morbin M, Bella DD, Moroni I, Taroni F, Pareyson D. J Peripher Nerv Syst. 2016 Sep;21(3):142-9. doi: 10.1111/jns.12175.

Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene. Laššuthová P, Šafka Brožková D, Krůtová M, Mazanec R, Züchner S, Gonzalez MA, Seeman P. Brain. 2016 Apr;139(Pt 4):e26. doi: 10.1093/brain/awv411. Epub 2016 Feb 11.

Severe axonal neuropathy is a late manifestation of SPG11. Manole A, Chelban V, Haridy NA, Hamed SA, Berardo A, Reilly MM, Houlden H. J Neurol. 2016 Nov;263(11):2278-2286. doi: 10.1007/s00415-016-8254-5. Epub 2016 Aug 20.

The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. Merkel PA, Manion M, Gopal-Srivastava R, Groft S, Jinnah HA, Robertson D, Krischer JP; Rare Diseases Clinical Research Network. Orphanet J Rare Dis. 2016 May 18;11(1):66. doi: 10.1186/s13023-016-0445-8.

Total contact cast wall load in patients with a plantar forefoot ulcer and diabetes. Begg L, McLaughlin P, Vicaretti M, Fletcher J, Burns J. J Foot Ankle Res. 2016 Jan 7;9:2. doi: 10.1186/s13047-015-0119-0. eCollection 2016.

Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3. Brewer MH, Chaudhry R, Qi J, Kidambi A, Drew AP, Menezes MP, Ryan MM, Farrar MA, Mowat D, Subramanian GM, Young HK, Zuchner S, Reddel SW, Nicholson GA, Kennerson ML. PLoS Genet. 2016 Jul 20;12(7):e1006177. doi: 10.1371/journal.pgen.1006177. eCollection 2016 Jul.

A new prion disease: relationship with central and peripheral amyloidoses. Mead S, Reilly MM. Nature reviews. Neurology. Feb 2015;11(2):90-97. PMID: 25623792.

A novel AARS mutation in a family with dominant myeloneuropathy. Motley WW, Griffin LB, Mademan I, Baets J, De Vriendt E, De Jonghe P, Antonellis A, Jordanova A, Scherer SS. Neurology. 2015 May 19;84(20):2040-7. doi: 10.1212/WNL.0000000000001583. Epub 2015 Apr 22.

A practical approach to the genetic neuropathies. Rossor AM, Evans MR, Reilly MM. Pract Neurol. 2015 Jun;15(3):187-98. doi: 10.1136/practneurol-2015-001095. Epub 2015 Apr 21.

Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation. Thal DR, Züchner S, Gierer S, Schulte C, Schöls L, Schüle R, Synofzik M. Int J Mol Sci. 2015 Oct 21;16(10):25050-66. doi: 10.3390/ijms161025050.

Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease. Brennan KM, Bai Y, Pisciotta C, Wang S, Feely SM, Hoegger M, Gutmann L, Moore SA, Gonzalez M, Sherman DL, Brophy PJ, Züchner S, Shy ME. Neuromuscul Disord. 2015 Oct;25(10):786-93. doi: 10.1016/j.nmd.2015.07.001. Epub 2015 Jul 7.

Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. Tétreault M, Gonzalez M, Dicaire MJ, Allard P, Gehring K, Leblanc D, Leclerc N, Schondorf R, Mathieu J, Zuchner S, Brais B. Brain. 2015 Jun;138(Pt 6):1477-83. doi: 10.1093/brain/awv074. Epub 2015 Mar 28.

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F, Durand CM, Depienne C, Calvas P, Coutinho P, Saudubray JM, Rouleau G, Brice A, Nicholson G, Darios F, Loureiro JL, Zuchner S, Ottolenghi C, Mochel F, Stevanin G. Brain. 2015 Aug;138(Pt 8):2191-205. doi: 10.1093/brain/awv143. Epub 2015 May 29.

An observational study of asymmetry in CMT1A. Pelayo-Negro AL, Carr AS, Laura M, Skorupinska M, Reilly MM. J Neurol Neurosurg Psychiatry. 2015 May;86(5):589-90. doi: 10.1136/jnnp-2014-309096. Epub 2014 Oct 13.

Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties. Saporta MA, Dang V, Volfson D, Zou B, Xie XS, Adebola A, Liem RK, Shy M, Dimos JT. Exp Neurol. 2015 Jan;263:190-9. doi: 10.1016/j.expneurol.2014.10.005. Epub 2014 Oct 30.

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis. Fridman V, Bundy B, Reilly MM, Pareyson D, Bacon C, Burns J, Day J, Feely S, Finkel RS, Grider T, Kirk CA, Herrmann DN, Laurá M, Li J, Lloyd T, Sumner CJ, Muntoni F, Piscosquito G, Ramchandren S, Shy R, Siskind CE, Yum SW, Moroni I, Pagliano E, Zuchner S, Scherer SS, Shy ME; Inherited Neuropathies Consortium. J Neurol Neurosurg Psychiatry. 2015 Aug;86(8):873-8. doi: 10.1136/jnnp-2014-308826. Epub 2014 Nov 27.

Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion. Jerath NU, Kamholz J, Grider T, Harper A, Swenson A, Shy ME. Muscle Nerve. 2015 Nov;52(5):905-8. doi: 10.1002/mus.24713. Epub 2015 Jun 19.

Correlates of functional ankle instability in children and adolescents with Charcot-Marie-Tooth disease. Rose KJ, Hiller CE, Mandarakas M, Raymond J, Refshauge K, Burns J. J Foot Ankle Res. 2015 Nov 5;8:61. doi: 10.1186/s13047-015-0118-1. eCollection 2015.

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders. Baets J, Duan X, Wu Y, Smith G, Seeley WW, Mademan I, McGrath NM, Beadell NC, Khoury J, Botuyan MV, Mer G, Worrell GA, Hojo K, DeLeon J, Laura M, Liu YT, Senderek J, Weis J, Van den Bergh P, Merrill SL, Reilly MM, Houlden H, Grossman M, Scherer SS, De Jonghe P, Dyck PJ, Klein CJ. Brain. 2015 Apr;138(Pt 4):845-61. doi: 10.1093/brain/awv010. Epub 2015 Feb 11.

Defining disability: development and validation of a mobility-Disability Severity Index (mDSI) in Charcot-Marie-tooth disease. Ramchandren S, Shy M, Feldman E, Carlos R, Siskind C. J Neurol Neurosurg Psychiatry. 2015 Jun;86(6):635-9. doi: 10.1136/jnnp-2013-307390. Epub 2014 Aug 25.

Demyelinating CMT--what's known, what's new and what's in store?. Brennan KM, Bai Y, Shy ME. Neurosci Lett. 2015 Jun 2;596:14-26. doi: 10.1016/j.neulet.2015.01.059. Epub 2015 Jan 24.

Detection of copy number variation by SNP-allelotyping. Parker B, Alexander R, Wu X, Feely S, Shy M, Schnetz-Boutaud N, Li J. J Neurogenet. 2015 Mar;29(1):4-7. doi: 10.3109/01677063.2014.923884. Epub 2014 Jun 2.

Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia. Schmidt WM, Rutledge SL, Schüle R, Mayerhofer B, Züchner S, Boltshauser E, Bittner RE. Am J Hum Genet. 2015 Dec 3;97(6):855-61. doi: 10.1016/j.ajhg.2015.10.011. Epub 2015 Nov 12.

Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome. Whittaker RG, Herrmann DN, Bansagi B, Hasan BA, Lofra RM, Logigian EL, Sowden JE, Almodovar JL, Littleton JT, Zuchner S, Horvath R, Lochmüller H. Neurology. 2015 Dec 1;85(22):1964-71. doi: 10.1212/WNL.0000000000002185. Epub 2015 Oct 30.

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Gonzaga-Jauregui C, Harel T, Gambin T, Kousi M, Griffin LB, Francescatto L, Ozes B, Karaca E, Jhangiani SN, Bainbridge MN, Lawson KS, Pehlivan D, Okamoto Y, Withers M, Mancias P, Slavotinek A, Reitnauer PJ, Goksungur MT, Shy M, Crawford TO, Koenig M, Willer J, Flores BN, Pediaditrakis I, Us O, Wiszniewski W, Parman Y, Antonellis A, Muzny DM; Baylor-Hopkins Center for Mendelian Genomics, Katsanis N, Battaloglu E, Boerwinkle E, Gibbs RA, Lupski JR. Cell Rep. 2015 Aug 18;12(7):1169-83. doi: 10.1016/j.celrep.2015.07.023. Epub 2015 Aug 6.

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. Sanmaneechai O, Feely S, Scherer SS, Herrmann DN, Burns J, Muntoni F, Li J, Siskind CE, Day JW, Laura M, Sumner CJ, Lloyd TE, Ramchandren S, Shy RR, Grider T, Bacon C, Finkel RS, Yum SW, Moroni I, Piscosquito G, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium - Rare Disease Clinical Research Consortium (INC-RDCRC). Brain. 2015 Nov;138(Pt 11):3180-92. doi: 10.1093/brain/awv241. Epub 2015 Aug 25.

Hereditary Neuropathies in Late Childhood and Adolescence. Brennan K, Shy M. In: Darras B, Jones H, Ryan M, De Vivo D, eds. Neuromuscular Disorders of Infancy, Childhood and Adolescence: A Clinicians Approach. 2nd ed: Elsevier Inc; 2015:319-339.

Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies. Jerath NU, Shy ME. Biochim Biophys Acta. 2015 Apr;1852(4):667-78. doi: 10.1016/j.bbadis.2014.07.031. Epub 2014 Aug 6.

Inclusion body myositis and sarcoid myopathy: coincidental occurrence or associated diseases. Sanmaneechai O, Swenson A, Gerke AK, Moore SA, Shy ME. Neuromuscul Disord. Apr 2015;25(4):297-300. PMID: 25599912

Innovative genomic collaboration using the GENESIS (GEM.app) platform. Gonzalez M, Falk MJ, Gai X, Postrel R, Schüle R, Zuchner S. Hum Mutat. 2015 Oct;36(10):950-6. doi: 10.1002/humu.22836. Epub 2015 Aug 12.

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies. Safka Brozkova D, Deconinck T, Griffin LB, Ferbert A, Haberlova J, Mazanec R, Lassuthova P, Roth C, Pilunthanakul T, Rautenstrauss B, Janecke AR, Zavadakova P, Chrast R, Rivolta C, Zuchner S, Antonellis A, Beg AA, De Jonghe P, Senderek J, Seeman P, Baets J. Brain. 2015 Aug;138(Pt 8):2161-72. doi: 10.1093/brain/awv158. Epub 2015 Jun 13.

MFN2 deletion of exons 7 and 8: founder mutation in the UK population. Carr AS, Polke JM, Wilson J, Pelayo-Negro AL, Laura M, Nanji T, Holt J, Vaughan J, Rankin J, Sweeney MG, Blake J, Houlden H, Reilly MM. J Peripher Nerv Syst. 2015 Jun;20(2):67-71. doi: 10.1111/jns.12117.

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1. Strickland AV, Schabhüttl M, Offenbacher H, Synofzik M, Hauser NS, Brunner-Krainz M, Gruber-Sedlmayr U, Moore SA, Windhager R, Bender B, Harms M, Klebe S, Young P, Kennerson M, Garcia AS, Gonzalez MA, Züchner S, Schule R, Shy ME, Auer-Grumbach M. J Neurol. 2015 Sep;262(9):2124-34. doi: 10.1007/s00415-015-7727-2. Epub 2015 Jun 24.

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schüle R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, Németh AH, Carelli V, Huang T, Zuchner S, Dallman JE. Nat Genet. 2015 Aug;47(8):926-32. doi: 10.1038/ng.3354. Epub 2015 Jul 13.

Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity. Ernst D, Murphy SM, Sathiyanadan K, Wei Y, Othman A, Laurá M, Liu YT, Penno A, Blake J, Donaghy M, Houlden H, Reilly MM, Hornemann T. Neuromolecular Med. 2015 Mar;17(1):47-57. doi: 10.1007/s12017-014-8339-1. Epub 2015 Jan 8.

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy. Scoto M, Rossor AM, Harms MB, Cirak S, Calissano M, Robb S, Manzur AY, Martínez Arroyo A, Rodriguez Sanz A, Mansour S, Fallon P, Hadjikoumi I, Klein A, Yang M, De Visser M, Overweg-Plandsoen WC, Baas F, Taylor JP, Benatar M, Connolly AM, Al-Lozi MT, Nixon J, de Goede CG, Foley AR, Mcwilliam C, Pitt M, Sewry C, Phadke R, Hafezparast M, Chong WK, Mercuri E, Baloh RH, Reilly MM, Muntoni F. Neurology. 2015 Feb 17;84(7):668-79. doi: 10.1212/WNL.0000000000001269. Epub 2015 Jan 21.

Oculoleptomeningeal Amyloidosis associated with transthyretin Leu12Pro in an African patient. McColgan P, Viegas S, Gandhi S, Bull K, Tudor R, Sheikh F, Pinney J, Fontana M, Rowczenio D, Gillmore JD, Gilbertson JA, Whelan CJ, Shah S, Jaunmuktane Z, Holton JL, Schott JM, Werring DJ, Hawkins PN, Reilly MM. J Neurol. 2015 Jan;262(1):228-34. doi: 10.1007/s00415-014-7594-2. Epub 2014 Dec 9.

Peripheral Neuropathies. Saporta M, Shy M. In: Zigmond M, Coyle J, Rowland L, eds. Neurobiology of Brain Disorders: Biological Basis of Neurological and Psychiatric Disorders. 1st ed: Academic Press; 2015:167-188.

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzalez MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, Zuchner S, Herrmann DN, Blake J, Sowden JE, Acsadi G, Rodriguez ML, Menezes MP, Clarke NF, Auer Grumbach M, Bullock SL, Muntoni F, Reilly MM, North KN. Brain. Feb 2015;138(Pt 2):293-310. PMID: 25497877, PMCID: PMC4306822.

Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln). Jerath NU, Grider T, Shy ME. Case Rep Genet. 2015;2015:496053. doi: 10.1155/2015/496053. Epub 2015 Oct 12.

Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation. Jerath NU, Crockett CD, Moore SA, Shy ME, Weihl CC, Chou TF, Grider T, Gonzalez MA, Zuchner S, Swenson A. Case Rep Genet. 2015;2015:239167. doi: 10.1155/2015/239167. Epub 2015 Mar 23.

Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E. Pisciotta C, Bai Y, Brennan KM, Wu X, Grider T, Feely S, Wang S, Moore S, Siskind C, Gonzalez M, Zuchner S, Shy ME. Neurology. 2015 Jul 21;85(3):228-34. doi: 10.1212/WNL.0000000000001773. Epub 2015 Jun 24.

Small nerve fiber involvement in CMT1A. Nolano M, Manganelli F, Provitera V, et al. Neurology. 2015;84(4):407-414. PMID: 25540311, PMCID: PMC4336000.

The Matchmaker Exchange: a platform for rare disease gene discovery. Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL. Hum Mutat. 2015 Oct;36(10):915-21. doi: 10.1002/humu.22858.

Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy. Carr AS, Pelayo-Negro AL, Jaunmuktane Z, Scalco RS, Hutt D, Evans MR, Heally E, Brandner S, Holton J, Blake J, Whelan CJ, Wechalekar AD, Gillmore JD, Hawkins PN, Reilly MM. Neuromuscul Disord. 2015 Jun;25(6):511-5. doi: 10.1016/j.nmd.2015.02.001. Epub 2015 Feb 14.

Tremor in Charcot-Marie-Tooth disease: No evidence of cerebellar dysfunction. Saifee TA, Parees I, Kassavetis P, et al. Clin Neurophysiol. Sep 2015;126(9):1817-1824. PMID: 25641441.

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach. Zimoń M, Battaloğlu E, Parman Y, Erdem S, Baets J, De Vriendt E, Atkinson D, Almeida-Souza L, Deconinck T, Ozes B, Goossens D, Cirak S, Van Damme P, Shboul M, Voit T, Van Maldergem L, Dan B, El-Khateeb MS, Guergueltcheva V, Lopez-Laso E, Goemans N, Masri A, Züchner S, Timmerman V, Topaloğlu H, De Jonghe P, Jordanova A. Neurogenetics. 2015 Jan;16(1):33-42. doi: 10.1007/s10048-014-0422-0. Epub 2014 Sep 18.

Update on Charcot-Marie-Tooth disease. Gutmann L, Shy M. Curr Opin Neurol. 2015 Oct;28(5):462-7. doi: 10.1097/WCO.0000000000000237.

A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease. Gonzalez MA, Feely SM, Speziani F, Strickland AV, Danzi M, Bacon C, Lee Y, Chou TF, Blanton SH, Weihl CC, Zuchner S, Shy ME. Brain. 2014 Nov;137(Pt 11):2897-902. doi: 10.1093/brain/awu224. Epub 2014 Aug 14.

A pilot study of proximal strength training in Charcot-Marie-Tooth disease. Ramdharry GM, Pollard A, Anderson C, Laurá M, Murphy SM, Dudziec M, Dewar EL, Hutton E, Grant R, Reilly MM. J Peripher Nerv Syst. 2014 Dec;19(4):328-32. doi: 10.1111/jns.12100.

An ¹⁸F-FDG PET study of cervical muscle in parkinsonian anterocollis. Revuelta GJ, Montilla J, Benatar M, Freeman A, Wichmann T, Jinnah HA, Delong MR, Factor SA. J Neurol Sci. 2014 May 15;340(1-2):174-7. doi: 10.1016/j.jns.2014.03.023. Epub 2014 Mar 18.

Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation. Liu YT, Hersheson J, Plagnol V, Fawcett K, Duberley KE, Preza E, Hargreaves IP, Chalasani A, Laurá M, Wood NW, Reilly MM, Houlden H. J Neurol Neurosurg Psychiatry. 2014 May;85(5):493-8. doi: 10.1136/jnnp-2013-306483. Epub 2013 Nov 11.

Charcot-Marie-Tooth Disease. Rossor AR, MM. In: Hilton-Jones D, Turner M, eds. Oxford Textbook of Neuromuscular Disorders. Oxford, UK: Oxford University Press; 2014:61-74.

Effect of pain in pediatric inherited neuropathies. Ramchandren S, Jaiswal M, Feldman E, Shy M. Neurology. 2014 Mar 4;82(9):793-7. doi: 10.1212/WNL.0000000000000173. Epub 2014 Jan 29.

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. Liu YT, Laurá M, Hersheson J, Horga A, Jaunmuktane Z, Brandner S, Pittman A, Hughes D, Polke JM, Sweeney MG, Proukakis C, Janssen JC, Auer-Grumbach M, Zuchner S, Shields KG, Reilly MM, Houlden H. Neurology. 2014 Aug 12;83(7):612-9. doi: 10.1212/WNL.0000000000000691. Epub 2014 Jul 9.

Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success. Timmerman V, Strickland AV, Züchner S. Genes (Basel). 2014 Jan 22;5(1):13-32. doi: 10.3390/genes5010013.

Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2. Brewer MH, Ma KH, Beecham GW, Gopinath C, Baas F, Choi BO, Reilly MM, Shy ME, Züchner S, Svaren J, Antonellis A. Hum Mol Genet. 2014 Oct 1;23(19):5171-87. doi: 10.1093/hmg/ddu240. Epub 2014 May 15.

Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations. Griffin LB, Sakaguchi R, McGuigan D, Gonzalez MA, Searby C, Züchner S, Hou YM, Antonellis A. Hum Mutat. 2014 Nov;35(11):1363-71. doi: 10.1002/humu.22681.

Improved anatomical reproducibility in quantitative lower-limb muscle MRI. Fischmann A, Morrow JM, Sinclair CD, Reilly MM, Hanna MG, Yousry T, Thornton JS. J Magn Reson Imaging. 2014 Apr;39(4):1033-8. doi: 10.1002/jmri.24220. Epub 2013 Oct 7.

Knock-down DHDDS expression induces photoreceptor degeneration in zebrafish. Wen R, Dallman JE, Li Y, Züchner SL, Vance JM, Peričak-Vance MA, Lam BL. Adv Exp Med Biol. 2014;801:543-50. doi: 10.1007/978-1-4614-3209-8_69.

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia. Esteves T, Durr A, Mundwiller E, et al. Am J Hum Genet. Feb 6 2014;94(2):268-277. PMID: 24388663, PMCID: PMC3928657.

Motor protein mutations cause a new form of hereditary spastic paraplegia. Caballero Oteyza A, Battaloglu E, Ocek L, et al. Neurology. Jun 3 2014;82(22):2007-2016. PMID: 24808017, PMCID: PMC4105256.

Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa. Lam BL, Züchner SL, Dallman J, Wen R, Alfonso EC, Vance JM, Peričak-Vance MA. Adv Exp Med Biol. 2014;801:165-70. doi: 10.1007/978-1-4614-3209-8_21.

Natural History and Biomarkers in Hereditary Sensory Neuropathy Type 1. Fridman V, Oaklander AL, David WS, et al. Muscle Nerve. Jul 10 2014. PMID: 25042817.

Normative reference values for lower limb joint range, bone torsion, and alignment in children aged 4-16 years. Mudge AJ, Bau KV, Purcell LN, Wu JC, Axt MW, Selber P, Burns J. J Pediatr Orthop B. 2014 Jan;23(1):15-25. doi: 10.1097/BPB.0b013e328364220a.

Observational study of spinal muscular atrophy type I and implications for clinical trials. Finkel RS, McDermott MP, Kaufmann P, Darras BT, Chung WK, Sproule DM, Kang PB, Foley AR, Yang ML, Martens WB, Oskoui M, Glanzman AM, Flickinger J, Montes J, Dunaway S, O'Hagen J, Quigley J, Riley S, Benton M, Ryan PA, Montgomery M, Marra J, Gooch C, De Vivo DC. Neurology. 2014 Aug 26;83(9):810-7. doi: 10.1212/WNL.0000000000000741. Epub 2014 Jul 30.

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Synofzik M, Gonzalez MA, Lourenco CM, et al. Brain. Jan 2014;137(Pt 1):69-77. PMID: 24355708, PMCID: PMC3891450.

Pain and small fiber function in Charcot-Marie-Tooth disease type 1A. Laurà M, Hutton EJ, Blake J, Lunn MP, Fox Z, Pareyson D, Solari A, Radice D, Koltzenburg M, Reilly MM. Muscle Nerve. 2014 Sep;50(3):366-71. doi: 10.1002/mus.24169. Epub 2014 May 15.

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia. Horga A, Pitceathly RD, Blake JC, Woodward CE, Zapater P, Fratter C, Mudanohwo EE, Plant GT, Houlden H, Sweeney MG, Hanna MG, Reilly MM. Brain. 2014 Dec;137(Pt 12):3200-12. doi: 10.1093/brain/awu279. Epub 2014 Oct 3.

Prospective Study of Muscle Cramps in Charcot-Marie- Tooth Disease. Johnson NE, Sowden J, Dilek N, et al. Muscle Nerve. Jul 5 2014. PMID: 25042364.

Proximal nerve magnetization transfer MRI relates to disability in Charcot-Marie-Tooth diseases. Dortch RD, Dethrage LM, Gore JC, Smith SA, Li J. Neurology. 2014 Oct 21;83(17):1545-53. doi: 10.1212/WNL.0000000000000919. Epub 2014 Sep 24.

Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis. Sadjadi R, Reilly MM, Shy ME, Pareyson D, Laura M, Murphy S, Feely SM, Grider T, Bacon C, Piscosquito G, Calabrese D, Burns TM. J Peripher Nerv Syst. 2014 Sep;19(3):192-6. doi: 10.1111/jns.12084.

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier. Bonifert T, Karle KN, Tonagel F, et al. Brain. 2014;137(Pt 8):2164-2177. PMID: 24970096, PMCID: PMC4107747.

Quality-of-life in Charcot-Marie-Tooth disease: the patient's perspective. Johnson NE, Heatwole CR, Dilek N, Sowden J, Kirk CA, Shereff D, Shy ME, Herrmann DN; Inherited Neuropathies Consortium. Neuromuscul Disord. 2014 Nov;24(11):1018-23. doi: 10.1016/j.nmd.2014.06.433. Epub 2014 Jun 27.

Reproducibility, and age, body-weight and gender dependency of candidate skeletal muscle MRI outcome measures in healthy volunteers. Morrow JM, Sinclair CD, Fischmann A, et al. Eur Radiol. Jul 2014;24(7):1610-1620. PMID: 24748539, PMCID: PMC4046083.

Sequencing of Charcot-Marie-Tooth disease genes in a toxic polyneuropathy. Beutler AS, Kulkarni AA, Kanwar R, et al. Ann Neurol. Nov 2014;76(5):727-737. PMID: 25164601, PMCID: PMC4388308.

Smoking and Parkinson disease: where there is smoke there may not be fire. Hershey LA, Perlmutter JS. Neurology. 2014 Oct 14;83(16):1392-3. doi: 10.1212/WNL.0000000000000896. Epub 2014 Sep 12.

Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy. Herrmann DN, Horvath R, Sowden JE, Gonzalez M, Sanchez-Mejias A, Guan Z, Whittaker RG, Almodovar JL, Lane M, Bansagi B, Pyle A, Boczonadi V, Lochmüller H, Griffin H, Chinnery PF, Lloyd TE, Littleton JT, Zuchner S. Am J Hum Genet. 2014 Sep 4;95(3):332-9. doi: 10.1016/j.ajhg.2014.08.007.

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Züchner S, Muntoni F, Houlden H. Brain. 2014 Jan;137(Pt 1):44-56. doi: 10.1093/brain/awt315. Epub 2013 Nov 19.

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, Laura M, Sweeney MG, Taroni F, Lunn MP, Moroni I, Gonzalez M, Hanna MG, Bettencourt C, Chabrol E, Franke A, von Au K, Schilhabel M, Kabzińska D, Hausmanowa-Petrusewicz I, Brandner S, Lim SC, Song H, Choi BO, Horvath R, Chung KW, Zuchner S, Pareyson D, Harms M, Reilly MM, Houlden H. Am J Hum Genet. 2014 Nov 6;95(5):590-601. doi: 10.1016/j.ajhg.2014.10.002. Epub 2014 Oct 30.

A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. Sumner CJ, d'Ydewalle C, Wooley J, Fawcett KA, Hernandez D, Gardiner AR, Kalmar B, Baloh RH, Gonzalez M, Züchner S, Stanescu HC, Kleta R, Mankodi A, Cornblath DR, Boylan KB, Reilly MM, Greensmith L, Singleton AB, Harms MB, Rossor AM, Houlden H. Am J Hum Genet. 2013 Nov 7;93(5):976-83. doi: 10.1016/j.ajhg.2013.10.006. Epub 2013 Oct 24.

A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Vester A, Velez-Ruiz G, McLaughlin HM; NISC Comparative Sequencing Program, Lupski JR, Talbot K, Vance JM, Züchner S, Roda RH, Fischbeck KH, Biesecker LG, Nicholson G, Beg AA, Antonellis A. Hum Mutat. 2013 Jan;34(1):191-9. doi: 10.1002/humu.22210. Epub 2012 Oct 11.

A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. Kennerson ML, Yiu EM, Chuang DT, Kidambi A, Tso SC, Ly C, Chaudhry R, Drew AP, Rance G, Delatycki MB, Züchner S, Ryan MM, Nicholson GA. Hum Mol Genet. 2013 Apr 1;22(7):1404-16. doi: 10.1093/hmg/dds557. Epub 2013 Jan 7.

A novel prion disease associated with diarrhea and autonomic neuropathy. Mead S, Gandhi S, Beck J, Caine D, Gallujipali D, Carswell C, Hyare H, Joiner S, Ayling H, Lashley T, Linehan JM, Al-Doujaily H, Sharps B, Revesz T, Sandberg MK, Reilly MM, Koltzenburg M, Forbes A, Rudge P, Brandner S, Warren JD, Wadsworth JDF, Wood NW, Holton JL, Collinge J. N Engl J Med. 2013 Nov 14;369(20):1904-14. doi: 10.1056/NEJMoa1214747.

A review of genetic counseling for Charcot Marie Tooth disease (CMT). Siskind CE, Panchal S, Smith CO, et al. J Genet Couns. Aug 2013;22(4):422-436. PMID: 23604902.

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. Boukhris A, Schule R, Loureiro JL, et al. Am J Hum Genet. Jul 11 2013;93(1):118-123. PMID: 23746551, PMCID: PMC3710753.

Anterior tibialis CMAP amplitude correlations with impairment in CMT1A. Komyathy K, Neal S, Feely S, Miller LJ, Lewis RA, Trigge G, Siskind CE, Shy ME, Ramchandren S. Muscle Nerve. 2013 Apr;47(4):493-6. doi: 10.1002/mus.23614. Epub 2013 Mar 3.

Asymmetric sensory ganglionopathy: a case series. Marquez-Infante C, Murphy SM, Mathew L, Alsanousi A, Lunn MP, Brandner S, Yousry TA, Blake J, Reilly MM. Muscle Nerve. 2013 Jul;48(1):145-50. doi: 10.1002/mus.23772. Epub 2013 Jun 6.

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood. Pitceathly RD, Taanman JW, Rahman S, Meunier B, Sadowski M, Cirak S, Hargreaves I, Land JM, Nanji T, Polke JM, Woodward CE, Sweeney MG, Solanki S, Foley AR, Hurles ME, Stalker J, Blake J, Holton JL, Phadke R, Muntoni F, Reilly MM, Hanna MG; UK10K Consortium. JAMA Neurol. 2013 Dec;70(12):1556-61. doi: 10.1001/jamaneurol.2013.3242.

Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Rossor AM, Polke JM, Houlden H, Reilly MM. Nat Rev Neurol. 2013 Oct;9(10):562-71. doi: 10.1038/nrneurol.2013.179. Epub 2013 Sep 10.

DNA testing in hereditary neuropathies. Murphy SM, Laurá M, Reilly MM. Handb Clin Neurol. 2013;115:213-32. doi: 10.1016/B978-0-444-52902-2.00012-6.

Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age. Eschbach J, Sinniger J, Bouitbir J, Fergani A, Schlagowski AI, Zoll J, Geny B, René F, Larmet Y, Marion V, Baloh RH, Harms MB, Shy ME, Messadeq N, Weydt P, Loeffler JP, Ludolph AC, Dupuis L. Neurobiol Dis. 2013 Oct;58:220-30. doi: 10.1016/j.nbd.2013.05.015. Epub 2013 Jun 4.

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. Gonzalez M, McLaughlin H, Houlden H, Guo M, Yo-Tsen L, Hadjivassilious M, Speziani F, Yang XL, Antonellis A, Reilly MM, Züchner S; Inherited Neuropathy Consortium. J Neurol Neurosurg Psychiatry. 2013 Nov;84(11):1247-9. doi: 10.1136/jnnp-2013-305049. Epub 2013 Jun 1.

Genetic testing practices for CMT1A. Tousignant R, Trepanier A, Shy ME, Siskind CE. Muscle Nerve. Aug 20 2013. PMID: 23963961.

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12. Landoure G, Zhu PP, Lourenco CM, et al. Hum Mutat. Oct 2013;34(10):1357-1360. PMID: 23857908, PMCID: PMC3819934.

Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2. Murphy SM, Ernst D, Wei Y, Laurà M, Liu YT, Polke J, Blake J, Winer J, Houlden H, Hornemann T, Reilly MM. Neurology. 2013 Jun 4;80(23):2106-11. doi: 10.1212/WNL.0b013e318295d789. Epub 2013 May 8.

High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial. Lewis RA, McDermott MP, Herrmann DN, Hoke A, Clawson LL, Siskind C, Feely SM, Miller LJ, Barohn RJ, Smith P, Luebbe E, Wu X, Shy ME; Muscle Study Group. JAMA Neurol. 2013 Aug;70(8):981-7. doi: 10.1001/jamaneurol.2013.3178.

Impact of nocturnal calf cramping on quality of sleep and health- related quality of life. Hawke F, Chuter V, Burns J. Qual Life Res. Aug 2013;22(6):1281-1286. PMID: 23011494.

Inherited neuropathies: an update. Sagnelli A, Piscosquito G, Pareyson D. J Neurol. Oct 2013;260(10):2684-2690. PMID: 24061768.

Inherited neuropathies: clinical overview and update. Klein CJ, Duan X, Shy ME. Muscle Nerve. 2013 Oct;48(4):604-22. doi: 10.1002/mus.23775. Epub 2013 Jun 26.

Inherited peripheral neuropathies. Saporta MA, Shy ME. Neurol Clin. 2013 May;31(2):597-619. doi: 10.1016/j.ncl.2013.01.009. Epub 2013 Mar 5.

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. Martin E, Schule R, Smets K, et al. Am J Hum Genet. Feb 7 2013;92(2):238- 244. PMID: 23332916, PMCID: PMC3567271.

Measuring Ankle Instability in Pediatric Charcot- Marie-Tooth Disease. Mandarakas M, Hiller CE, Rose KJ, Burns J. J Child Neurol. Nov 2013;28(11):1456-1462. PMID: 23696628.

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Oates EC, Rossor AM, Hafezparast M, Gonzalez M, Speziani F, MacArthur DG, Lek M, Cottenie E, Scoto M, Foley AR, Hurles M, Houlden H, Greensmith L, Auer-Grumbach M, Pieber TR, Strom TM, Schule R, Herrmann DN, Sowden JE, Acsadi G, Menezes MP, Clarke NF, Züchner S; UK10K, Muntoni F, North KN, Reilly MM. Am J Hum Genet. 2013 Jun 6;92(6):965-73. doi: 10.1016/j.ajhg.2013.04.018. Epub 2013 May 9.

Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54). Gonzalez M, Nampoothiri S, Kornblum C, et al. Eur J Hum Genet. Nov 2013;21(11):1214-1218. PMID: 23486545, PMCID: PMC3798837.

Natural History Baseline Phenotype and Genotype of Hereditary Motor Sensory Peripheral Neuropathies Caused by Mutation in the Myelin Protein Zero. Sanmaneechai O, Feely S, Finkel R, et al. Paper presented at: 2013 Peripheral Nerve Society Biennial Meeting; June 29–July 3, 2013; Saint-Malo, France.

Patient identification of the symptomatic impact of charcot-marie-tooth disease type 1A. Johnson NE, Heatwole CR, Ferguson M, Sowden JE, Jeanat S, Herrmann DN. J Clin Neuromuscul Dis. 2013 Sep;15(1):19-23. doi: 10.1097/CND.0b013e31829e22e3.

Peripheral neuropathy in mitochondrial disorders. Pareyson D, Piscosquito G, Moroni I, Salsano E, Zeviani M. Lancet Neurol. Oct 2013;12(10):1011-1024. PMID: 24050734.

Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy. Cottenie E, Menezes MP, Rossor AM, Morrow JM, Yousry TA, Dick DJ, Anderson JR, Jaunmuktane Z, Brandner S, Blake JC, Houlden H, Reilly MM. Neuromuscul Disord. 2013 May;23(5):399-403. doi: 10.1016/j.nmd.2013.01.010. Epub 2013 Mar 13.

The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits. Stevens JC, Murphy SM, Davagnanam I, Phadke R, Anderson G, Nethisinghe S, Bremner F, Giunti P, Reilly MM. J Neurol Neurosurg Psychiatry. 2013 Jan;84(1):114-6. doi: 10.1136/jnnp-2012-303634. Epub 2012 Nov 3.

The Rare Diseases Clinical Research Network Contact Registry for the Inherited Neuropathies Consortium. Hall CA, Bacon CJ, Shy ME, Inherited Neuropathies Consortium, Rare Diseases Clinical Research Network Data Management and Coordinating Center. Paper presented at: Charcot-Marie-Tooth Association, 5th International CMT Consortium Meeting; Jun. 25-27, 2013; Antwerp, Belgium.

Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease. Burns J, Menezes M, Finkel RS, Estilow T, Moroni I, Pagliano E, Laurá M, Muntoni F, Herrmann DN, Eichinger K, Shy R, Pareyson D, Reilly MM, Shy ME. J Peripher Nerv Syst. 2013 Jun;18(2):177-80. doi: 10.1111/jns5.12024.

A novel p.Gln175X [corrected] premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2. Rossor AM, Davidson GL, Blake J, Polke JM, Murphy SM, Houlden H, Innes A, Kalmar B, Greensmith L, Reilly MM. J Peripher Nerv Syst. 2012 Jun;17(2):201-5. doi: 10.1111/j.1529-8027.2012.00400.x.

A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). McLaughlin HM, Sakaguchi R, Giblin W; NISC Comparative Sequencing Program, Wilson TE, Biesecker L, Lupski JR, Talbot K, Vance JM, Züchner S, Lee YC, Kennerson M, Hou YM, Nicholson G, Antonellis A. Hum Mutat. 2012 Jan;33(1):244-53. doi: 10.1002/humu.21635. Epub 2011 Nov 9.

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Tesson C, Nawara M, Salih MA, et al. Am J Hum Genet. Dec 7 2012;91(6):1051-1064. PMID: 23176821, PMCID: PMC3516610.

Anti Ma2-associated myeloradiculopathy: expanding the phenotype of anti-Ma2 associated paraneoplastic syndromes. Murphy SM, Khan U, Alifrangis C, Hazell S, Hrouda D, Blake J, Ball J, Gabriel C, Markarian P, Rees J, Karim A, Seckl MJ, Lunn MP, Reilly MM. J Neurol Neurosurg Psychiatry. 2012 Feb;83(2):232-3. doi: 10.1136/jnnp.2010.223271. Epub 2011 Jan 4.

BAG3 mutations: another cause of giant axonal neuropathy. Jaffer F, Murphy SM, Scoto M, Healy E, Rossor AM, Brandner S, Phadke R, Selcen D, Jungbluth H, Muntoni F, Reilly MM. J Peripher Nerv Syst. 2012 Jun;17(2):210-6. doi: 10.1111/j.1529-8027.2012.00409.x.

Charcot-Marie-Tooth disease and related genetic neuropathies. Patzko A, Shy ME. Continuum (Minneapolis, Minn.). Feb 2012;18(1):39-59. PMID: 22810069.

Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. Murphy SM, Laura M, Fawcett K, Pandraud A, Liu YT, Davidson GL, Rossor AM, Polke JM, Castleman V, Manji H, Lunn MP, Bull K, Ramdharry G, Davis M, Blake JC, Houlden H, Reilly MM. J Neurol Neurosurg Psychiatry. 2012 Jul;83(7):706-10. doi: 10.1136/jnnp-2012-302451. Epub 2012 May 10.

Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls. Fawcett KA, Murphy SM, Polke JM, Wray S, Burchell VS, Manji H, Quinlivan RM, Zdebik AA, Reilly MM, Houlden H. J Neurol Neurosurg Psychiatry. 2012 Dec;83(12):1204-9. doi: 10.1136/jnnp-2012-303055. Epub 2012 Jul 31.

Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice. Patzkó A, Bai Y, Saporta MA, Katona I, Wu X, Vizzuso D, Feltri ML, Wang S, Dillon LM, Kamholz J, Kirschner D, Sarkar FH, Wrabetz L, Shy ME. Brain. 2012 Dec;135(Pt 12):3551-66. doi: 10.1093/brain/aws299.

Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era. Norton N, Robertson PD, Rieder MJ, Züchner S, Rampersaud E, Martin E, Li D, Nickerson DA, Hershberger RE; National Heart, Lung and Blood Institute GO Exome Sequencing Project. Circ Cardiovasc Genet. 2012 Apr 1;5(2):167-74. doi: 10.1161/CIRCGENETICS.111.961805. Epub 2012 Feb 15.

Exploring the experience of fatigue in people with Charcot-Marie-Tooth disease. Ramdharry GM, Thornhill A, Mein G, Reilly MM, Marsden JF. Neuromuscul Disord. Dec 2012;22 Suppl 3:S208- 213. PMID: 23182641.

Flexor digitorum superficialis opposition tendon transfer improves hand function in children with Charcot-Marie-Tooth disease: case series. Estilow T, Kozin SH, Glanzman AM, Burns J, Finkel RS. Neuromuscul Disord. 2012 Dec;22(12):1090-5. doi: 10.1016/j.nmd.2012.07.011. Epub 2012 Sep 1.

Foot drop splints improve proximal as well as distal leg control during gait in Charcot-Marie-Tooth disease. Ramdharry GM, Day BL, Reilly MM, Marsden JF. Muscle Nerve. Oct 2012;46(4):512- 519. PMID: 22987691.

Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. Davidson G, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M, Manji H, Davis M, Houlden H, Reilly M. J Neurol. 2012 Aug;259(8):1673-85. doi: 10.1007/s00415-011-6397-y.

Gap junctions in inherited human disorders of the central nervous system. Abrams CK, Scherer SS. Biochim Biophys Acta. Aug 2012;1818(8):2030-2047. PMID: 21871435, PMCID: PMC3771870.

Genetic Mutations Affecting Myelin Formation. Scherer SS, Feltri ML, Wrabetz L. In: Kettenmann H, Ransom BR, eds. Neuroglia. New York, NY: Oxford University Press; 2012:798-808.

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. Pitceathly RD, Murphy SM, Cottenie E, Chalasani A, Sweeney MG, Woodward C, Mudanohwo EE, Hargreaves I, Heales S, Land J, Holton JL, Houlden H, Blake J, Champion M, Flinter F, Robb SA, Page R, Rose M, Palace J, Crowe C, Longman C, Lunn MP, Rahman S, Reilly MM, Hanna MG. Neurology. 2012 Sep 11;79(11):1145-54. doi: 10.1212/WNL.0b013e3182698d8d. Epub 2012 Aug 29.

Hand weakness in Charcot-Marie-Tooth disease 1X. Arthur-Farraj PJ, Murphy SM, Laura M, Lunn MP, Manji H, Blake J, Ramdharry G, Fox Z, Reilly MM. Neuromuscul Disord. 2012 Jul;22(7):622-6. doi: 10.1016/j.nmd.2012.02.008. Epub 2012 Mar 28.

Hereditary amyloid neuropathy. Murphy SM, Reilly M. Autonomic Failure: a textbook of clinical disorders of the autonomic nervous system. New York: Oxford University Press; 2012.

How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?. Kleopa KA, Abrams CK, Scherer SS. Brain Res. 2012 Dec 3;1487:198-205. doi: 10.1016/j.brainres.2012.03.068. Epub 2012 Jul 6.

Isolated motor conduction block associated with infliximab. Michell AW, Gaitatzis A, Burge J, Reilly MM, Kapoor R, Koltzenburg M. J Neurol. 2012 Aug;259(8):1758-60. doi: 10.1007/s00415-012-6452-3. Epub 2012 Feb 18.

Knee bobbing in Charcot-Marie-Tooth disease. Rossor AM, Murphy S, Reilly MM. Pract Neurol. 2012 Jun;12(3):182-3. doi: 10.1136/practneurol-2011-000167.

Lessons from London. Shy ME. J Neurol Neurosurg Psychiatry. 2012 Aug;83(8):767-8. doi: 10.1136/jnnp-2012-302858. Epub 2012 Jun 13.

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Zimoń M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, Battaloğlu E, Matur Z, Guergueltcheva V, Tournev I, Auer-Grumbach M, De Rijk P, Petersen BS, Müller T, Fransen E, Van Damme P, Löscher WN, Barišić N, Mitrovic Z, Previtali SC, Topaloğlu H, Bernert G, Beleza-Meireles A, Todorovic S, Savic-Pavicevic D, Ishpekova B, Lechner S, Peeters K, Ooms T, Hahn AF, Züchner S, Timmerman V, Van Dijck P, Rasic VM, Janecke AR, De Jonghe P, Jordanova A. Nat Genet. 2012 Oct;44(10):1080-3. doi: 10.1038/ng.2406. Epub 2012 Sep 9.

MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B. Saporta MA, Shy BR, Patzko A, Bai Y, Pennuto M, Ferri C, Tinelli E, Saveri P, Kirschner D, Crowther M, Southwood C, Wu X, Gow A, Feltri ML, Wrabetz L, Shy ME. Brain. 2012 Jul;135(Pt 7):2032-47. doi: 10.1093/brain/aws140. Epub 2012 Jun 10.

Mutation in FAM134B causing severe hereditary sensory neuropathy. Murphy SM, Davidson GL, Brandner S, Houlden H, Reilly MM. J Neurol Neurosurg Psychiatry. 2012 Jan;83(1):119-20. doi: 10.1136/jnnp.2010.228965. Epub 2010 Nov 28.

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. Montenegro G, Rebelo AP, Connell J, et al. J Clin Invest. Feb 1 2012;122(2):538-544. PMID: 22232211, PMCID: PMC3266795.

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH. Neurology. 2012 May 29;78(22):1714-20. doi: 10.1212/WNL.0b013e3182556c05. Epub 2012 Mar 28.

Peripheral Neuropathies. Shy M. Goldman's Cecil Medicine: Expert Consult Premium Edition. Philadelphia, PA: Elsevier; 2012:2396-2409.

Phenotypic presentation of the Ser63Del MPZ mutation. Miller LJ, Patzko A, Lewis RA, Shy ME. J Peripher Nerv Syst. 2012 Jun;17(2):197-200. doi: 10.1111/j.1529-8027.2012.00398.x.

Rituximab responsive multiple radiculopathies and cranial nerve palsies in association with chronic lymphocytic leukaemia. Morrow JM, D'Sa S, Page RA, Hilali MA, Lunn MP, Reilly MM. J Neurol. Mar 2012;259(3):571-573. PMID: 21887515.

Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion. Voermans NC, Kleefstra T, Gabreels-Festen AA, et al. J Peripher. Nerv. Syst. Jun 2012;17(2):223-225. PMID: 22734911.

Skeletal muscle MRI magnetisation transfer ratio reflects clinical severity in peripheral neuropathies. Sinclair CD, Morrow JM, Miranda MA, Davagnanam I, Cowley PC, Mehta H, Hanna MG, Koltzenburg M, Yousry TA, Reilly MM, Thornton JS. J Neurol Neurosurg Psychiatry. Jan 2012;83(1):29-32. PMID: 21613652.

Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease. Burns J, Ouvrier R, Estilow T, Shy R, Laurá M, Eichinger K, Muntoni F, Reilly MM, Pareyson D, Acsadi G, Shy ME, Finkel RS. Clin Biomech (Bristol, Avon). 2012 Aug;27(7):744-7. doi: 10.1016/j.clinbiomech.2012.02.006. Epub 2012 Mar 16.

The distal hereditary motor neuropathies. Rossor AM, Kalmar B, Greensmith L, Reilly MM. J Neurol Neurosurg Psychiatry. 2012 Jan;83(1):6-14. doi: 10.1136/jnnp-2011-300952. Epub 2011 Oct 25.

The p150(Glued) CAP-Gly domain regulates initiation of retrograde transport at synaptic termini. Lloyd TE, Machamer J, O'Hara K, et al. Neuron. Apr 26 2012;74(2):344-360. PMID: 22542187, PMCID: PMC3353876.

Unintended effects of orphan product designation for rare neurological diseases. Murphy SM, Puwanant A, Griggs RC; Consortium for Clinical Investigations of Neurological Channelopathies (CINCH) and Inherited Neuropathies Consortium (INC) Consortia of the Rare Disease Clinical Research Network. Ann Neurol. 2012 Oct;72(4):481-90. doi: 10.1002/ana.23672.

Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability. Burns J, Ouvrier R, Estilow T, Shy R, Laurá M, Pallant JF, Lek M, Muntoni F, Reilly MM, Pareyson D, Acsadi G, Shy ME, Finkel RS. Ann Neurol. 2012 May;71(5):642-52. doi: 10.1002/ana.23572.

X inactivation in females with X-linked Charcot-Marie-Tooth disease. Murphy SM, Ovens R, Polke J, Siskind CE, Laurà M, Bull K, Ramdharry G, Houlden H, Murphy RP, Shy ME, Reilly MM. Neuromuscul Disord. 2012 Jul;22(7):617-21. doi: 10.1016/j.nmd.2012.02.009. Epub 2012 Apr 6.

X-linked Charcot-Marie-Tooth disease. Scherer SS, Kleopa KA. J Peripher Nerv Syst. 2012 Dec;17 Suppl 3(0 3):9-13. doi: 10.1111/j.1529-8027.2012.00424.x.

dSarm/Sarm1 is required for activation of an injury-induced axon death pathway. Osterloh JM, Yang J, Rooney TM, Fox AN, Adalbert R, Powell EH, Sheehan AE, Avery MA, Hackett R, Logan MA, MacDonald JM, Ziegenfuss JS, Milde S, Hou YJ, Nathan C, Ding A, Brown RH Jr, Conforti L, Coleman M, Tessier-Lavigne M, Züchner S, Freeman MR. Science. 2012 Jul 27;337(6093):481-4. doi: 10.1126/science.1223899. Epub 2012 Jun 7.

A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease. Murphy SM, Polke J, Manji H, Blake J, Reiniger L, Sweeney M, Houlden H, Brandner S, Reilly MM. J Peripher Nerv Syst. 2011 Mar;16(1):65-70. doi: 10.1111/j.1529-8027.2011.00321.x.

A painful right leg. Smith LJ, Murphy SM, Holmes P, Reilly MM, Reiniger L, Thom M, Lunn MP. BMJ. 2011;342:d1009. PMID: 21411806.

Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. Pareyson D, Reilly MM, Schenone A, et al. Lancet Neurol. Apr 2011;10(4):320-328. PMID: 21393063, PMCID: PMC3154498.

Axonal Charcot-Marie-Tooth disease. Shy ME, Patzkó A. Curr Opin Neurol. 2011 Oct;24(5):475-83. doi: 10.1097/WCO.0b013e32834aa331.

CMT2A: the name doesn't tell the whole story. Scherer SS. Neurology. May 17 2011;76(20):1686-1687. PMID: 21508332.

Charcot-Marie-Tooth disease. Reilly MM, Murphy SM, Laurá M. J Peripher Nerv Syst. 2011 Mar;16(1):1-14. doi: 10.1111/j.1529-8027.2011.00324.x.

Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Saporta AS, Sottile SL, Miller LJ, Feely SM, Siskind CE, Shy ME. Ann Neurol. 2011 Jan;69(1):22-33. doi: 10.1002/ana.22166.

Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation. Murphy SM, Laurá M, Blake J, Polke J, Bremner F, Reilly MM. Neuromuscul Disord. 2011 Mar;21(3):223-6. doi: 10.1016/j.nmd.2010.12.010. Epub 2011 Jan 21.

Distinct pathogenic processes between Fig4-deficient motor and sensory neurons. Katona I, Zhang X, Bai Y, et al. Eur J Neurosci. Apr 2011;33(8):1401-1410. PMID: 21410794.

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family. Montenegro G, Powell E, Huang J, Speziani F, Edwards YJ, Beecham G, Hulme W, Siskind C, Vance J, Shy M, Züchner S. Ann Neurol. 2011 Mar;69(3):464-70. doi: 10.1002/ana.22235. Epub 2011 Jan 20.

Genetics of neuropathies. Siskind CE, Shy ME. Semin Neurol. Nov 2011;31(5):494-505. PMID: 22266887.

In vivo confocal microscopy of Meissner corpuscles as a novel sensory measure in CMT1A. Almodovar JL, Ferguson M, McDermott MP, Lewis RA, Shy ME, Herrmann DN. J Peripher Nerv Syst. 2011 Sep;16(3):169-74. doi: 10.1111/j.1529-8027.2011.00342.x.

Induced pluripotent stem cells in the study of neurological diseases. Saporta MA, Grskovic M, Dimos JT. Stem cell research & therapy. 2011;2(5):37. PMID: 21936964, PMCID: PMC3308034.

Inherited peripheral neuropathies. Shy ME. Continuum (Minneapolis, Minn.). Apr 2011;17(2 Neurogenetics):294-315. PMID: 22810821.

MFN2 mutations cause severe phenotypes in most patients with CMT2A. Feely SM, Laura M, Siskind CE, Sottile S, Davis M, Gibbons VS, Reilly MM, Shy ME. Neurology. 2011 May 17;76(20):1690-6. doi: 10.1212/WNL.0b013e31821a441e. Epub 2011 Apr 20.

Microtubules, axonal transport, and neuropathy. Holzbaur EL, Scherer SS. N Engl J Med. 2011 Dec 15;365(24):2330-2. doi: 10.1056/NEJMcibr1112481.

Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2. McCorquodale DS, 3rd, Montenegro G, Peguero A, et al. J Neurol. Jul 2011;258(7):1234-1239. PMID: 21258814, PMCID: PMC3125445.

Neuropathy in a human without the PMP22 gene. Saporta MA, Katona I, Zhang X, Roper HP, McClelland L, Macdonald F, Brueton L, Blake J, Suter U, Reilly MM, Shy ME, Li J. Arch Neurol. Jun 2011;68(6):814-821. PMID: 21670407, PMCID: PMC3711535.

Phenotype expression in women with CMT1X. Siskind CE, Murphy SM, Ovens R, Polke J, Reilly MM, Shy ME. J Peripher Nerv Syst. 2011 Jun;16(2):102-7. doi: 10.1111/j.1529-8027.2011.00332.x.

Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. Polke JM, Laura M, Pareyson D, et al. Neurology. Jul 12 2011;77(2):168-173. PMID: 21715711, PMCID: PMC3140074.

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease. Murphy SM, Herrmann DN, McDermott MP, Scherer SS, Shy ME, Reilly MM, Pareyson D. J Peripher Nerv Syst. 2011 Sep;16(3):191-8. doi: 10.1111/j.1529-8027.2011.00350.x.

Strategy for genetic testing in Charcot-Marie-disease. Miller LJ, Saporta AS, Sottile SL, Siskind CE, Feely SM, Shy ME. Acta Myol. 2011 Oct;30(2):109-16.

The death panel for Charcot-Marie-Tooth panels. Amato AA, Reilly MM. Ann Neurol. Jan 2011;69(1):1-4. PMID: 21280068.

The debut of a rational treatment for an inherited neuropathy. Scherer SS. J Clin Invest. Dec 2011;121(12):4624-4627. PMID: 22045569, PMCID: PMC3226011.

Update on Charcot-Marie-Tooth disease. Patzkó A, Shy ME. Curr Neurol Neurosci Rep. 2011 Feb;11(1):78-88. doi: 10.1007/s11910-010-0158-7.

Variable phenotypes are associated with PMP22 missense mutations. Russo M, Laura M, Polke JM, et al. Neuromuscul Disord. Feb 2011;21(2):106-114. PMID: 21194947.

Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. Züchner S, Dallman J, Wen R, Beecham G, Naj A, Farooq A, Kohli MA, Whitehead PL, Hulme W, Konidari I, Edwards YJ, Cai G, Peter I, Seo D, Buxbaum JD, Haines JL, Blanton S, Young J, Alfonso E, Vance JM, Lam BL, Peričak-Vance MA. Am J Hum Genet. 2011 Feb 11;88(2):201-6. doi: 10.1016/j.ajhg.2011.01.001. Epub 2011 Feb 3.

c-Jun expression in human neuropathies: a pilot study. Hutton EJ, Carty L, Laurá M, Houlden H, Lunn MP, Brandner S, Mirsky R, Jessen K, Reilly MM. J Peripher Nerv Syst. 2011 Dec;16(4):295-303. doi: 10.1111/j.1529-8027.2011.00360.x.

168th ENMC International Workshop: outcome measures and clinical trials in Charcot-Marie-Tooth disease (CMT). Reilly MM, Shy ME, Muntoni F, Pareyson D. Neuromuscul Disord. Dec 2010;20(12):839-846. PMID: 20850975.

Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease. Huang J, Wu X, Montenegro G, et al. J Neurol. May 2010;257(5):735-741. PMID: 19949810, PMCID: PMC2865568.

Determinants of reduced health-related quality of life in pediatric inherited neuropathies. Burns J, Ramchandren S, Ryan MM, Shy M, Ouvrier RA. Neurology. 2010 Aug 24;75(8):726-31. doi: 10.1212/WNL.0b013e3181eee496.

Genes and Inherited Neuropathies. Scherer SS. Companion to Peripheral Neuropathy. Philadelphia, PA: Saunders Elsevier; 2010:335-342.

Quality of life in children with Charcot-Marie-Tooth disease. Burns J, Ryan MM, Ouvrier RA. J Child Neurol. Mar 2010;25(3):343-347. PMID: 19713553.

SeqEM: an adaptive genotype-calling approach for next-generation sequencing studies. Martin ER, Kinnamon DD, Schmidt MA, Powell EH, Zuchner S, Morris RW. Bioinformatics. 2010 Nov 15;26(22):2803-10. doi: 10.1093/bioinformatics/btq526. Epub 2010 Sep 21.

Ascorbic acid for treatment of CMT1A: the jury is still out. Shy M. Lancet Neurol. Jun 2009;8(6):505-507. PMID: 19427270.

Diagnosis and new treatments in genetic neuropathies. Reilly MM, Shy ME. Reilly MM, Shy ME. Diagnosis and new treatments in genetic neuropathies. J Neurol Neurosurg Psychiatry. Dec 2009;80(12):1304-1314. PMID: 19917815.

Exome sequencing of a multigenerational human pedigree. Hedges DJ, Burges D, Powell E, Almonte C, Huang J, Young S, Boese B, Schmidt M, Pericak-Vance MA, Martin E, Zhang X, Harkins TT, Züchner S. PLoS One. 2009 Dec 14;4(12):e8232. doi: 10.1371/journal.pone.0008232.

Hip flexor fatigue limits walking in Charcot-Marie-Tooth disease. Ramdharry GM, Day BL, Reilly MM, Marsden JF. Muscle Nerve. 2009 Jul;40(1):103-11. doi: 10.1002/mus.21264.

PMP22 expression in dermal nerve myelin from patients with CMT1A. Katona I, Wu X, Feely SM, et al. Brain. Jul 2009;132(Pt 7):1734-1740. PMID: 19447823, PMCID: PMC2724915.

Persistent CNS dysfunction in a boy with CMT1X. Siskind C, Feely SM, Bernes S, Shy ME, Garbern JY. J Neurol Sci. Apr 15 2009;279(1-2):109-113. PMID: 19193385.

Quality of life in children with CMT type 1A. Ramchandren S, Shy ME, Finkel RS. Lancet Neurol. Oct 2009;8(10):880-881; author reply 881. PMID: 19747650.

The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy. Houlden H, Laura M, Ginsberg L, et al. Neuromuscul Disord. Apr 2009;19(4):264-269. PMID: 19272779.

Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons. Dimos JT, Rodolfa KT, Niakan KK, Weisenthal LM, Mitsumoto H, Chung W, Croft GF, Saphier G, Leibel R, Goland R, Wichterle H, Henderson CE, Eggan K. Science. Aug 29 2008;321(5893):1218-1221. PMID: 18669821.