Associated Papers
Abnormal redox balance at membrane contact sites causes axonopathy in GDAP1-related Charcot-Marie-Tooth disease.
Cantarero L et al.
Research Square, 2024
39801517 (PubMed )
Supplement: NIHPPRS5682984V1-supplement-1.pdf
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.
Sivera R et al.
Scientific Reports, 2017
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
A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease.
Georgiou DM et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2006
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.
Claramunt R et al.
Journal of Medical Genetics, 2005
Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations.
De Sandre-Giovannoli A et al.
Journal of Medical Genetics, 2003
Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.
Senderek J et al.
Brain : a Journal of Neurology, 2003
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.
Cuesta A et al.
Nature Genetics, 2002
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