Associated Papers
Phenotypic characterization of c.379A > G GJB1 mutation in a Charcot-Marie-Tooth female patient.
Merico E et al.
Acta Neurologica Belgica, 2023
New evidence for secondary axonal degeneration in demyelinating neuropathies.
Moss KR et al.
Neuroscience Letters, 2021
Novel gap junction protein beta-1 gene mutation associated with a stroke-like syndrome and central nervous system involvement in patients with X-linked Charcot-Marie-Tooth Type 1: A case report and literature review.
Hu G et al.
Clinical Neurology and Neurosurgery, 2019
Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population.
Casasnovas C et al.
Clinical Genetics, 2006
X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene.
Vondracek P et al.
Muscle & Nerve, 2005
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