GDAP1 mutations in Czech families with early-onset CMT

2007/04/12 by L. Baránková, Emílie Vyhnálková, E. Vyhnálková +18 · 17 citations
Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Allele #Allele frequency #Biology #Caveolin-1 and cellular processes #Czech #Gene #Genetics #Hereditary Neurological Disorders #Medicine #Missense mutation #Mutation #Nonsense mutation #Population #Signaling Pathways in Disease

paper · doi:10.1016/j.nmd.2007.02.010

published in Neuromuscular Disorders 17(6), 482-489 (Elsevier BV)

openalex publication_date 2007/04/12 · crossref created 2007/04/12 · crossref issued 2007/06/01 · crossref published 2007/06/01 · crossref published-print 2007/06/01 · openalex created_date 2025/10/10 · crossref deposited 2025/10/18 · crossref indexed 2026/05/28 · openalex updated_date 2026/07/28

Citations

• Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene
• Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease
• Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene
• Evolutionary and Structural Analyses of GDAP1, Involved in Charcot-Marie-Tooth Disease, Characterize a Novel Class of Glutathione Transferase-Related Genes
• Phenotypical Features of a Moroccan Family With Autosomal Recessive Charcot-Marie-Tooth Disease Associated With the S194X Mutation in the GDAP1 Gene

Cited by

• GDAP1 [wikipedia]