Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth (CMT) disease is a hereditary motor and sensory neuropathy characterized by loss of muscle and touch sensation. Discover the latest research on CMT here.

April 16, 2021
Open Access

A stress-free strategy to correct point mutations in patient iPS cells.

Stem Cell Research
Jingli CaiLorraine Iacovitti
April 15, 2021
Preprint
Open Access

Human myelin protein P2: From crystallography to time-lapse membrane imaging and neuropathy-associated variants

BioRxiv : the Preprint Server for Biology
M. UusitaloPetri Kursula
April 14, 2021
Open Access

Childbirth and motherhood in women with motor disability due to a rare condition: an exploratory study.

Orphanet Journal of Rare Diseases
Marc DommerguesSylvie Viaux-Savelon
April 12, 2021

A recurrent MORC2 mutation causes CMT2Z.

Journal of the Peripheral Nervous System : JPNS
Dragan VujovicSteven S Scherer
April 12, 2021
Review
Open Access

Selective Bilateral Vestibular Neuropathy in a Turkish CMT1B Family With a Novel MPZ Mutation.

Neurology. Clinical Practice
Gülden AkdalGábor Michael Halmágyi
April 8, 2021
Open Access

Genetic and clinical spectrums in Korean Charcot-Marie-Tooth disease patients with myelin protein zero mutations.

Molecular Genetics & Genomic Medicine
Hye Jin KimKi Wha Chung
April 10, 2021
Review

Instruments to assess upper-limb function in children and adolescents with neuromuscular diseases: a systematic review.

Developmental Medicine and Child Neurology
Gabriela Barroso De Queiroz DavoliAna Claudia Mattiello-Sverzut
April 8, 2021
Open Access

Genotype-phenotype correlations of KIF5A stalk domain variants.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration
Eva M J de BoerMichael A van Es
April 8, 2021
Review
Open Access

Associations between Neurological Diseases and Mutations in the Human Glycyl-tRNA Synthetase.

Biochemistry. Biokhimii︠a︡
Ekaterina S VinogradovaEkaterina Yu Nikonova
April 5, 2021

Involuntary moaning in a Hispanic family with eight affected members.

Parkinsonism & Related Disorders
Maria GisatulinMarcelo Merello
April 5, 2021
Review

Drosophila models to study causative genes for human rare intractable neurological diseases.

Experimental Cell Research
Masamitsu YamaguchiHideki Yoshida
April 1, 2021
Case Report
Open Access

A Patient with Noonan Syndrome with a KRAS Mutation Who Presented Severe Nerve Root Hypertrophy.

Case Reports in Neurology
Yoshihito AndoYoko Aoki
March 29, 2021

Reference values for lower limb nerve ultrasound and its diagnostic sensitivity.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
Jingwen NiuMingsheng Liu
March 28, 2021
Review

Association between restless legs syndrome and peripheral neuropathy: A systematic review and meta-analysis.

European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies
Félix Javier Jiménez-JiménezJosé A G Agúndez
March 26, 2021
Open Access

[A case of Charcot-Marie-Tooth disease type 2Z caused by MORC2 S87L mutation mimicking spinal muscular atrophy].

Rinshō shinkeigaku = Clinical neurology
Daisuke YamamotoShun Shimohama
March 23, 2021
Open Access

CMT2N-causing aminoacylation domain mutants enable Nrp1 interaction with AlaRS.

Proceedings of the National Academy of Sciences of the United States of America
Litao SunXiang-Lei Yang

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