Associated Papers
Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1.
Sutinen A et al.
Febs Open Bio, 2022
35509130 (PubMed )
Supplement: FEB4-12-1306-s001.xlsx › All_mutations
Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants.
Jerath NU
Case Reports in Medicine, 2022
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.
Sivera R et al.
Scientific Reports, 2017
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course.
Pezzini I et al.
Neuromuscular Disorders : Nmd, 2016
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.
Manganelli F et al.
Journal of the Peripheral Nervous System : Jpns, 2014
A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation.
Kabzińska D et al.
Acta Biochimica Polonica, 2014
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family.
Manganelli F et al.
Journal of the Peripheral Nervous System : Jpns, 2012
Select a paper to view details