Charcot-Marie-Tooth Disease Pediatric Scale

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

V. Fridman, B. Bundy, M. Reilly, et al.. (2014). Journal of Neurology, Neurosurgery, and Psychiatry. Cited 313 times. https://doi.org/10.1136/jnnp-2014-308826

MFN2 mutations cause severe phenotypes in most patients with CMT2A

S. Feely, M. Laurá, C. Siskind, et al.. (2011). Neurology. Cited 204 times. https://doi.org/10.1212/WNL.0b013e31821a441e

Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.

S. Züchner, J. Dallman, R. Wen, et al.. (2011). American journal of human genetics. Cited 174 times. https://doi.org/10.1016/j.ajhg.2011.01.001

Validation of the Charcot–Marie–Tooth disease pediatric scale as an outcome measure of disability

J. Burns, R. Ouvrier, T. Estilow, et al.. (2012). Annals of Neurology. Cited 164 times. https://doi.org/10.1002/ana.23572

Diagnosis and new treatments in genetic neuropathies

M. Reilly, M. Shy. (2009). Journal of Neurology, Neurosurgery & Psychiatry. Cited 159 times. https://doi.org/10.1136/jnnp.2008.158295

Peripheral neuropathy in mitochondrial disorders

D. Pareyson, G. Piscosquito, I. Moroni, et al.. (2013). The Lancet Neurology. Cited 111 times. https://doi.org/10.1016/S1474-4422(13)70158-3

X‐linked Charcot‐Marie‐Tooth disease

S. Scherer, K. Kleopa. (2012). Journal of the Peripheral Nervous System. Cited 64 times. https://doi.org/10.1111/j.1529-8027.2012.00424.x

168th ENMC International Workshop: Outcome measures and clinical trials in Charcot–Marie–Tooth disease (CMT)

M. Reilly, M. Shy, F. Muntoni, et al.. (2010). Neuromuscular Disorders. Cited 63 times. https://doi.org/10.1016/j.nmd.2010.08.001

Phenotype expression in women with CMT1X

C. Siskind, S. Murphy, R. Ovens, et al.. (2011). Journal of the Peripheral Nervous System. Cited 58 times. https://doi.org/10.1111/j.1529-8027.2011.00332.x

Persistent CNS dysfunction in a boy with CMT1X

C. Siskind, S. Feely, S. Bernes, et al.. (2009). Journal of the Neurological Sciences. Cited 42 times. https://doi.org/10.1016/j.jns.2008.12.031

Determinants of reduced health-related quality of life in pediatric inherited neuropathies

Joshua Burns, S. Ramchandren, Monique M. Ryan, et al.. (2010). Neurology. Cited 40 times. https://doi.org/10.1212/WNL.0b013e3181eee496

Natural history and biomarkers in hereditary sensory neuropathy type 1

V. Fridman, A. Oaklander, W. David, et al.. (2015). Muscle & Nerve. Cited 35 times. https://doi.org/10.1002/mus.24336

Quality of Life in Children With Charcot-Marie-Tooth Disease

J. Burns, M. Ryan, R. Ouvrier. (2010). Journal of Child Neurology. Cited 25 times. https://doi.org/10.1177/0883073809339877

A Review of Genetic Counseling for Charcot Marie Tooth Disease (CMT)

C. Siskind, S. Panchal, Corrine O. Smith, et al.. (2013). Journal of Genetic Counseling. Cited 25 times. https://doi.org/10.1007/s10897-013-9584-4

Genetics of neuropathies.

C. Siskind, M. Shy. (2011). Seminars in neurology. Cited 24 times. https://doi.org/10.1055/s-0031-1299788

Axonal Charcot-Marie-Tooth disease.

M. Shy, Á. Patzkó. (2011). Current opinion in neurology. Cited 22 times. https://doi.org/10.1097/WCO.0b013e32834aa331

Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot‐Marie‐Tooth disease

J. Burns, M. Menezes, R. Finkel, et al.. (2013). Journal of the Peripheral Nervous System. Cited 21 times. https://doi.org/10.1111/jns5.12024

Effect of pain in pediatric inherited neuropathies

S. Ramchandren, M. Jaiswal, E. Feldman, et al.. (2014). Neurology. Cited 17 times. https://doi.org/10.1212/WNL.0000000000000173

Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease.

J. Burns, R. Ouvrier, T. Estilow, et al.. (2012). Clinical biomechanics. Cited 16 times. https://doi.org/10.1016/j.clinbiomech.2012.02.006

The debut of a rational treatment for an inherited neuropathy?

S. Scherer. (2011). The Journal of clinical investigation. Cited 15 times. https://doi.org/10.1172/JCI60511

Defining disability: development and validation of a mobility-Disability Severity Index (mDSI) in Charcot-Marie-tooth disease

S. Ramchandren, M. Shy, E. Feldman, et al.. (2014). Journal of Neurology, Neurosurgery & Psychiatry. Cited 8 times. https://doi.org/10.1136/jnnp-2013-307390

Quality of life in children with CMT type 1A

S. Ramchandren, M. Shy, R. Finkel. (2009). The Lancet Neurology. Cited 7 times. https://doi.org/10.1016/S1474-4422(09)70247-9

Ascorbic acid for treatment of CMT1A: the jury is still out

M. Shy. (2009). The Lancet Neurology. Cited 6 times. https://doi.org/10.1016/S1474-4422(09)70112-7

CMT2A

S. Scherer. (2011). Neurology. Cited 3 times. https://doi.org/10.1212/WNL.0b013e31821bcc42

Obstructive sleep apnoea, restless leg syndrome and Charcot-Marie-Tooth disease type 1: important associations

M. Reilly. (2013). Journal of Neurology, Neurosurgery & Psychiatry. Cited 2 times. https://doi.org/10.1136/jnnp-2013-305491

Inherited Peripheral Neuropathies

Michael E Shy. (2011). CONTINUUM: Lifelong Learning in Neurology. https://doi.org/10.1212/01.CON.0000396963.75069.66