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A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot-Marie-Tooth disease
Edgar JR, Ho AK, Laura M, et al.
Acta neuropathologica communications, 2020, 8, 1, p 165
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Cortese A, Zhu Y, Rebelo AP, et al.
Nature genetics, 2020, 52, 5, p 473
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores
Fridman V, Sillau S, Acsadi G, et al.
Neurology, 2020
Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease
Cortese A, Wilcox JE, Polke JM, et al.
Neurology, 2020, 94, 1
Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges
Pipis M, Rossor AM, Laura M, et al.
Nature reviews. Neurology, 2019
Charcot-Marie-Tooth disease and related disorders: an evolving landscape
Laura M, Pipis M, Rossor AM, et al.
Current opinion in neurology, 2019, 32, 5, p 641
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, et al.
Annals of neurology, 2019, p 55
Balance impairment in pediatric charcot-marie-tooth disease
Estilow T, Glanzman AM, Burns J, et al.
Muscle & Nerve, 2019
Community exercise is feasible for neuromuscular diseases and can improve aerobic capacity
Wallace A, Wallace A, Pietrusz A, et al.
Neurology, 2019, 92, 15
Preliminary design and validation of the "6-K-scale" for bulbar symptoms evaluation in SBMA
Giorgia Q, Irene B, Laura M, et al.
Neurological sciences, 2019
Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease
Laura M, Singh D, Ramdharry G, et al.
Muscle & Nerve, 2018, 57, 2, p 255
Plasma neurofilament light chain concentration in the inherited peripheral neuropathies
Sandelius Å, Zetterberg H, Blennow K, et al.
Neurology, 2018, 90, 6, p 518
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)
Panosyan FB, Laura M, Rossor AM, et al.
Neurology, 2017, 89, 9, p 927
Natural history of Charcot-Marie-Tooth disease during childhood
Cornett KM, Menezes MP, Shy RR, et al.
Annals of neurology, 2017, 82, 3, p 353
Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT
Tomaselli PJ, Rossor AM, Horga A, et al.
Neurology, 2017, 88, 15, p 1445
Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene
Rossor AM, Morrow JM, Polke JM, et al.
Neuromuscular disorders : NMD, 2017, 27, 1, p 50
Foot Surgery in Charcot-Marie-Tooth disease : Actes de colloque - 221st ENMC International Workshop, June 10th-12th, 2016 Naarden, The Netherlands
Reilly MM, Pareyson D, Burns J, et al.
Neuromuscular disorders : NMD, 2017, 27, 12, p 1138
Nerve conduction velocity in CMT1A: what else can we tell?
Manganelli F, Pisciotta C, Reilly MM, et al.
European journal of neurology, 2016, 23, 10, p 1566
Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease
Cornett KM, Menezes MP, Bray P, et al.
JAMA Neurology, 2016, Epub, 7 p.
Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
Sanmaneechai O, Feely S, Scherer SS, et al.
Brain : a journal of neurology, 2015, epub, p.1-13
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, et al.
Journal of neurology, neurosurgery, and psychiatry, 2015, 86, 8, p 873
MFN2 deletion of exons 7 and 8: founder mutation in the UK population
Carr AS, Polke JM, Wilson J, et al.
Journal of the peripheral nervous system : JPNS, 2015, 20, 2, p 67
Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2
Cottenie E, Kochanski A, Jordanova A, et al.
American journal of human genetics, 2014, 95, 5, p 590
Is overwork weakness relevant in Charcot-Marie-Tooth disease?
Piscosquito G, Reilly MM, Schenone A, et al.
Journal of neurology, neurosurgery, and psychiatry, 2014, 85, 12, p 1354
Pain and small fiber function in Charcot Marie Tooth disease type 1A
Laura M, Hutton EJ, Blake J, et al.
Muscle & Nerve, 2014, 50, 3, p. 366-371
