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The Silent Mutation

JAMA : the journal of the American Medical Association, 2021-05, Vol.325 (17), p.1721

Peyton, Margo A

2021

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Quality-of-life in Charcot–Marie–Tooth disease: The patient’s perspective

Neuromuscular disorders : NMD, 2014-11, Vol.24 (11), p.1018-1023

2014

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Development and Validation of the Pediatric Charcot–Marie–Tooth Disease Quality of Life Outcome Measure

Annals of neurology, 2021-02, Vol.89 (2), p.369-379

2021

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Treadmill training in patients affected by Charcot–Marie–Tooth neuropathy: results of a multicenter, prospective, randomized, single‐blind, controlled study

European journal of neurology, 2020-02, Vol.27 (2), p.280-287

2020

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Quality of life in hereditary neuropathy with liability to pressure palsies is as impaired as in Charcot–Marie–Tooth disease type 1A

Acta neurologica Belgica, 2021-12, Vol.121 (6), p.1481-1486

2021

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Efficacy of focal mechanic vibration treatment on balance in Charcot-Marie-Tooth 1A disease: a pilot study

Journal of neurology, 2016-07, Vol.263 (7), p.1434-1441

2016

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Clinical spectrum and gender differences in a large cohort of Charcot–Marie–Tooth type 1A patients

Journal of the neurological sciences, 2014-01, Vol.336 (1), p.155-160

2014

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Exploratory Study of Physical Activity in Persons With Charcot-Marie-Tooth Disease

Archives of physical medicine and rehabilitation, 2015-02, Vol.96 (2), p.260-268

2015

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Living With Charcot-Marie-Tooth, Charlie, and Change

The Journal of neuroscience nursing, 2020-02, Vol.52 (1), p.7

Inman, Emma

2020

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Binaural speech processing in individuals with auditory neuropathy

Neuroscience, 2012-12, Vol.226, p.227-235

2012

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Sport activity in Charcot-Marie-Tooth disease: a case study of a Paralympic swimmer

Neuromuscular disorders : NMD, 2016-09, Vol.26 (9), p.614-618

2016

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A Rasch Analysis of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) in a Cohort of Charcot-Marie-Tooth Type 1A Patients

PloS one, 2017-01, Vol.12 (1), p.e0169878-e0169878

2017

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Fatigue, reduced sleep quality and restless legs syndrome in Charcot-Marie-Tooth disease: a web-based survey

Journal of neurology, 2010-04, Vol.257 (4), p.646-652

2010

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Sexual Functioning in Women with Mild and Severe Symptoms of Charcot-Marie-Tooth Disease

Journal of sexual medicine, 2013-07, Vol.10 (7), p.1800-1806

2013

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Relationship between physical performance and quality of life in Charcot-Marie-Tooth disease: a pilot study

Journal of the peripheral nervous system, 2016-12, Vol.21 (4), p.357-364

2016

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Experienced and physiological fatigue in neuromuscular disorders

Clinical neurophysiology, 2007-02, Vol.118 (2), p.292-300

2007

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Lower urinary tract functions in a series of Charcot-Marie-Tooth neuropathy patients

Acta neurologica Scandinavica, 2014-05, Vol.129 (5), p.319-324

2014

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Correlation between clinical/neurophysiological findings and quality of life in Charcot-Marie-Tooth type 1A

Journal of the peripheral nervous system, 2008-03, Vol.13 (1), p.64-70

2008

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The development of a model of fatigue in neuromuscular disorders: A longitudinal study

Journal of psychosomatic research, 2007-05, Vol.62 (5), p.571-579

2007

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Factors that influence health-related quality of life in Australian adults with Charcot–Marie–Tooth disease

Neuromuscular disorders : NMD, 2008-08, Vol.18 (8), p.619-625

2008

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Quality of life in patients with Charcot-Marie-Tooth disease

Neurology, 2005-09, Vol.65 (6), p.922

2005

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Behavioral and molecular exploration of the AR-CMT2A mouse model Lmna (R298C/R298C)

Neuromolecular medicine, 2012-03, Vol.14 (1), p.40-52

2012

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Sensorimotor and cognitive function of a NEFL(P22S) mutant model of Charcot-Marie-Tooth disease type 2E

Behavioural brain research, 2011-06, Vol.219 (2), p.175-180

2011

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Patient identification of the symptomatic impact of charcot-marie-tooth disease type 1A

Journal of clinical neuromuscular disease, 2013-09, Vol.15 (1), p.19

2013

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The Silent Mutation

Quality-of-life in Charcot–Marie–Tooth disease: The patient’s perspective

Development and Validation of the Pediatric Charcot–Marie–Tooth Disease Quality of Life Outcome Measure

Effect of ascorbic acid in patients with Charcot–Marie–Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial

Treadmill training in patients affected by Charcot–Marie–Tooth neuropathy: results of a multicenter, prospective, randomized, single‐blind, controlled study

Quality of life in hereditary neuropathy with liability to pressure palsies is as impaired as in Charcot–Marie–Tooth disease type 1A

Efficacy of focal mechanic vibration treatment on balance in Charcot-Marie-Tooth 1A disease: a pilot study

Clinical spectrum and gender differences in a large cohort of Charcot–Marie–Tooth type 1A patients

Exploratory Study of Physical Activity in Persons With Charcot-Marie-Tooth Disease

Living With Charcot-Marie-Tooth, Charlie, and Change

Binaural speech processing in individuals with auditory neuropathy

Sport activity in Charcot-Marie-Tooth disease: a case study of a Paralympic swimmer

A Rasch Analysis of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) in a Cohort of Charcot-Marie-Tooth Type 1A Patients

Fatigue, reduced sleep quality and restless legs syndrome in Charcot-Marie-Tooth disease: a web-based survey

Sexual Functioning in Women with Mild and Severe Symptoms of Charcot-Marie-Tooth Disease

Relationship between physical performance and quality of life in Charcot-Marie-Tooth disease: a pilot study

Experienced and physiological fatigue in neuromuscular disorders

Lower urinary tract functions in a series of Charcot-Marie-Tooth neuropathy patients

Correlation between clinical/neurophysiological findings and quality of life in Charcot-Marie-Tooth type 1A

The development of a model of fatigue in neuromuscular disorders: A longitudinal study

Factors that influence health-related quality of life in Australian adults with Charcot–Marie–Tooth disease

Quality of life in patients with Charcot-Marie-Tooth disease

Behavioral and molecular exploration of the AR-CMT2A mouse model Lmna (R298C/R298C)

Sensorimotor and cognitive function of a NEFL(P22S) mutant model of Charcot-Marie-Tooth disease type 2E

Patient identification of the symptomatic impact of charcot-marie-tooth disease type 1A

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