Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies

Genetic epidemiology of Charcot-Marie-Tooth disease

(2012) G. J. Braathen   ACTA NEUROLOGICA SCANDINAVICA

Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

(2012) Sinead M Murphy et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Charcot-marie-tooth disease subtypes and genetic testing strategies

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

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

(2011) Gladys Montenegro et al.   ANNALS OF NEUROLOGY

High frequency of SH3TC2 mutations in Czech HMSN I patients

(2011) P Laššuthová et al.   CLINICAL GENETICS

Molecular diagnosis and clinical onset of Charcot–Marie–Tooth disease in Japan

(2011) Akiko Abe et al.   JOURNAL OF HUMAN GENETICS

Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2

(2011) Donald S. McCorquodale et al.   JOURNAL OF NEUROLOGY

P3.20 Inherited peripheral neuropathies: Genetic testing in the diagnostic laboratory

(2011) T. Antonidi et al.   NEUROMUSCULAR DISORDERS

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

(2010) H. Skre   CLINICAL GENETICS

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

(2008) Sharon E. Plon et al.   HUMAN MUTATION

Evaluation of distal symmetric polyneuropathy: The role of laboratory and genetic testing (an evidence-based review)

(2008) J.D. England et al.   MUSCLE & NERVE