Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland

Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth Disease

(2012) Byung-Ok Choi et al.   HUMAN MUTATION

Charcot-marie-tooth disease subtypes and genetic testing strategies

(2011) Anita S.D. Saporta et al.   ANNALS OF NEUROLOGY

Charcot-Marie-Tooth-related GeneGDAP1Complements Cell Cycle Delay at G2/M Phase inSaccharomyces cerevisiae fis1Gene-defective Cells

(2011) Anna Estela et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

(2011) M. Zimon et al.   NEUROLOGY

Comparison of solution-based exome capture methods for next generation sequencing

(2011) Anna-Maija Sulonen et al.   GENOME BIOLOGY

MFN2point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families

(2010) Geir J Braathen et al.   BMC Medical Genetics

Update on Charcot-Marie-Tooth Disease

(2010) Ágnes Patzkó et al.   Current Neurology and Neuroscience Reports

Genetic epidemiology of Charcot-Marie-Tooth in the general population

(2010) G. J. Braathen et al.   EUROPEAN JOURNAL OF 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

Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease

(2010) Rafael Sivera et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

(2010) James R. Lupski et al.   NEW ENGLAND JOURNAL OF MEDICINE

Charcot–Marie–Tooth disease

(2009) Kinga Szigeti et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance

(2009) Axel Niemann et al.   NEUROBIOLOGY OF DISEASE

Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy

(2008) T. Sevilla et al.   BRAIN

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