Charcot Marie Tooth Disease (cmt) - Neonatal Disorders

Relevant Publications

TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.

Issue Release: 2024

Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.

Issue Release: 2024

Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.

Issue Release: 2024

Genetic Landscape of variants in Russian patients with Charcot-Marie-Tooth disease.

Issue Release: 2024

Bilateral hearing impairment as an early symptom in a patient with Charcot-Marie-Tooth Type 1: the first case report from Syria.

Issue Release: 2024

A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family.

Issue Release: 2024

Telecoaching: a potential new training model for Charcot-Marie-Tooth patients: a systematic review.

Issue Release: 2024

Genetic and clinical profile of 15 Chinese families with GDAP1-related Charcot-Marie-Tooth disease and identification of H256R as a frequent mutation.

Issue Release: 2024

Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure.

Issue Release: 2024

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

Issue Release: 2024

Epigenetic regulation of the human gene.

Issue Release: 2024

ITPR3-associated neuropathy: Report of a further family with adult onset intermediate Charcot-Marie-Tooth disease.

Issue Release: 2024

Hereditary spastic paraplegia and extensive leukoencephalopathy: a case report of a unique phenotype associated with a GJB1/Cx32 p.Pro174Ser variant.

Issue Release: 2024

A Novel m.1636A > G Variant in Mitochondrial TV Gene Might Cause New Phenotype of Mitochondrial Disease in a 2-Year Old Chinese Boy.

Issue Release: 2024

Muscular dystrophy patients show low exercise-induced blood flow in muscles with normal strength.

Issue Release: 2024

Identification and Characterization of Novel Founder Mutations in : Refining the Genetic Landscape of Charcot-Marie-Tooth Disease Type 4D in Bulgaria.

Issue Release: 2024

Jean-Martin Charcot: Pioneer of Neurology.

Issue Release: 2024

Clinical, neurophysiological evaluation and genetic features of axonal Charcot-Marie-Tooth disease in a Chinese family.

Issue Release: 2024

Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes.

Issue Release: 2024

Diagnostic value of lower extremity ultrasonographic nerve enlargement for differentiating demyelinating Charcot-Marie-Tooth disease from chronic inflammatory demyelinating polyneuropathy.

Issue Release: 2024

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