A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT

(2011) J. Cassereau et al.   NEUROLOGY

Mitochondrial dysfunction and pathophysiology of Charcot–Marie–Tooth disease involving GDAP1 mutations

(2010) Julien Cassereau et al.   EXPERIMENTAL NEUROLOGY

The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K

(2010) C. Crimella et al.   JOURNAL OF MEDICAL GENETICS

Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A

(2009) Isabella Moroni et al.   NEUROMUSCULAR DISORDERS

Targeting and Function of the Mitochondrial Fission Factor GDAP1 Are Dependent on Its Tail-Anchor

(2009) Konstanze M. Wagner et al.   PLoS One

Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease

(2008) Laia Pedrola et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease

(2008) Ki Wha Chung et al.   JOURNAL OF HUMAN GENETICS

Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

(2008) Julien Cassereau et al.   NEUROGENETICS