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 8, 2021

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
March 23, 2021
Open Access

Squalenoyl siRNA PMP22 nanoparticles are effective in treating mouse models of Charcot-Marie-Tooth disease type 1 A.

Communications Biology
Suzan BoutaryLiliane Massaad-Massade
March 16, 2021
Open Access

Gait parameters as tools for analyzing phenotypic alterations of a mouse model of Charcot-Marie-Tooth disease.

Animal Cells and Systems
Sun Hee HwangYoung Bin Hong
March 14, 2021

Dynamic plantar pressure patterns in children and adolescents with Charcot-Marie-Tooth disease.

Gait & Posture
Juliana CardosoAna Claudia Mattiello-Sverzut
March 12, 2021
Open Access

AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy.

Gene Therapy
Alexia KagiavaKleopas A Kleopa
March 6, 2021
Open Access

HINT1 neuropathy in Norway: clinical, genetic and functional profiling.

Orphanet Journal of Rare Diseases
Silvia Amor-BarrisKristien Peeters
March 5, 2021
Preprint
Open Access

GDAP1 loss of function inhibits the mitochondrial pyruvate dehydrogenase complex by altering the actin cytoskeleton

BioRxiv : the Preprint Server for Biology
C. WolfAxel Methner
March 3, 2021

A prospective study on surgical management of foot deformities in Charcot Marie tooth disease.

Journal of the Peripheral Nervous System : JPNS
Gita RamdharryMatilde Laurá

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