Associated Papers
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
Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.
Nair P et al.
Molecular Genetics & Genomic Medicine, 2018
A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset.
Vazza G et al.
Neuromuscular Disorders : Nmd, 2006
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