A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot–Marie–Tooth type 4 disease

2005/12/16 by Dagmara Kabzińska, Andrzej Kochański, Hanna Drac +8 · 9 citations
Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Biology #Caveolin-1 and cellular processes #Coding region #Degenerative disease #Disease #Ganglioside #Gene #Gene mutation #Genetics #Hereditary Neurological Disorders #Medicine #Mutation #Neurogenetic and Muscular Disorders Research #Pathology #Tooth disease

paper · doi:10.1016/j.jns.2005.10.002

published in Journal of the Neurological Sciences 241(1-2), 7-11 (Elsevier BV)

openalex publication_date 2005/12/16 · crossref created 2005/12/16 · crossref issued 2006/02/01 · crossref published 2006/02/01 · crossref published-print 2006/02/01 · crossref deposited 2025/09/20 · openalex created_date 2025/10/10 · crossref indexed 2026/02/16 · openalex updated_date 2026/07/28

Citations

• 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]