Associated Papers
Digenesis in Charcot-Marie-Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 Genes.
Shumeri E et al.
Journal of the Peripheral Nervous System : Jpns, 2025
Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies.
Ferreira T et al.
Journal of Neurology, 2024
Identification and functional characterization of novel GDAP1 variants in Chinese patients with Charcot-Marie-Tooth disease.
Chen CX et al.
Annals of Clinical and Translational Neurology, 2020
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM7_ESM.xlsx › Supplementary_Data_4
Clinical and genetic investigation in Chinese patients with demyelinating Charcot-Marie-Tooth disease.
He J et al.
Journal of the Peripheral Nervous System : Jpns, 2018
The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease.
Niemann A et al.
Brain : a Journal of Neurology, 2014
Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan.
Hayashi M et al.
Journal of Human Genetics, 2013
Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.
Cassereau J et al.
Experimental Neurology, 2011
The homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373C > T causes a very early-onset neuropathy: case report and literature review.
Fusco C et al.
Journal of Child Neurology, 2011
Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.
Auer-Grumbach M et al.
Neuropediatrics, 2008
GDAP1 mutations in Czech families with early-onset CMT.
Baránková L et al.
Neuromuscular Disorders : Nmd, 2007
Select a paper to view details