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Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A

eLife, 2020-10, Vol.9

2020

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Carpal tunnel syndrome in inherited neuropathies: A retrospective survey

Muscle & nerve, 2018-03, Vol.57 (3), p.388-394

2018

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Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A

Frontiers in neurology, 2022-06, Vol.13, p.930435-930435

2022

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MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B

Brain (London, England : 1878), 2012-07, Vol.135 (Pt 7), p.2032-2047

2012

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Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1

Case reports in neurology, 2023-06, Vol.15 (1), p.146-152

2023

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Reply: The classification of Charcot-Marie-Tooth diseases, a never-ending story: CMT4?

Brain (London, England : 1878), 2018-09, Vol.141 (9), p.e71-e71

Shy, Michael E

2018

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The Charcot–Marie–Tooth Health Index: Evaluation of a Patient‐Reported Outcome

Annals of neurology, 2018-08, Vol.84 (2), p.225-233

2018

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Clinical Characteristics of Charcot-Marie-Tooth Disease Type 4J

Neurology, 2024-09, Vol.103 (5)

2024

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Increased survival and function of SOD1 mice after glial cell-derived neurotrophic factor gene therapy

Human gene therapy, 2002-06, Vol.13 (9), p.1047-1059

2002

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SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency

Brain (London, England : 1878), 2018-03, Vol.141 (3), p.662-672

2018

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Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history

Brain (London, England : 1878), 2023-09, Vol.146 (9), p.3826-3835

2023

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Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease

Neurology, 2023-08, Vol.101 (7)

2023

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Treatment with IFB-088 Improves Neuropathy in CMT1A and CMT1B Mice

Molecular neurobiology, 2022-07, Vol.59 (7), p.4159-4178

2022

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Recruiting for an International Rare Disease Clinical Trial Readiness Study during the COVID-19 pandemic: Challenges and solutions

Journal of the peripheral nervous system, 2023-09, Vol.28 (3), p.528-529

2023

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A human cellular model to study peripheral myelination and demyelinating neuropathies

Brain (London, England : 1878), 2017-04, Vol.140 (4), p.856-859

2017

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Randomized Phase 2 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease

Neurology, 2022-06, Vol.98 (23)

2022

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Journal of the peripheral nervous system, 2021-11, Vol.26 (S2), p.i-i

2021

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Validation of the parent-proxy version of the pediatric Charcot-Marie-Tooth disease quality of life instrument for children aged 0-7 years

Journal of the peripheral nervous system, 2023-09, Vol.28 (3), p.382-389

2023

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Validation of the Italian version of the pediatric CMT quality of life outcome measure

Journal of the peripheral nervous system, 2022-06, Vol.27 (2), p.127-130

2022

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Virtual Charcot-Marie-Tooth Examination Score: A Validated Virtual Evaluation for People With Charcot-Marie-Tooth Disease

Neurology. Clinical practice, 2022-10, Vol.12 (5), p.e98-e104

2022

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A recurrent GARS mutation causes distal hereditary motor neuropathy

Journal of the peripheral nervous system, 2019-12, Vol.24 (4), p.320-323

2019

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A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A

Journal of the peripheral nervous system, 2024-06, Vol.29 (2), p.202-212

2024

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Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B

Annals of clinical and translational neurology, 2018-04, Vol.5 (4), p.445-455

2018

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Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln)

Case reports in genetics, 2015-01, Vol.2015 (2015), p.1-5

2015

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Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A

Carpal tunnel syndrome in inherited neuropathies: A retrospective survey

Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A

MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B

Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1

Reply: The classification of Charcot-Marie-Tooth diseases, a never-ending story: CMT4?

Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot–Marie–Tooth Disease Type 1A

The Charcot–Marie–Tooth Health Index: Evaluation of a Patient‐Reported Outcome

Clinical Characteristics of Charcot-Marie-Tooth Disease Type 4J

Increased survival and function of SOD1 mice after glial cell-derived neurotrophic factor gene therapy

SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency

Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history

Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease

Treatment with IFB-088 Improves Neuropathy in CMT1A and CMT1B Mice

Recruiting for an International Rare Disease Clinical Trial Readiness Study during the COVID-19 pandemic: Challenges and solutions

A human cellular model to study peripheral myelination and demyelinating neuropathies

Randomized Phase 2 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease

Featured Cover

Validation of the parent-proxy version of the pediatric Charcot-Marie-Tooth disease quality of life instrument for children aged 0-7 years

Validation of the Italian version of the pediatric CMT quality of life outcome measure

Virtual Charcot-Marie-Tooth Examination Score: A Validated Virtual Evaluation for People With Charcot-Marie-Tooth Disease

A recurrent GARS mutation causes distal hereditary motor neuropathy

A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A

Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B

Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln)

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