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Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success

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Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

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A Review of Genetic Counseling for Charcot Marie Tooth Disease (CMT)

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(2013) Alexander M. Rossor et al.   Nature Reviews Neurology

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(2013) Donna Karolchik et al.   NUCLEIC ACIDS RESEARCH

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

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

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease

(2012) R. D. S. Pitceathly et al.   NEUROLOGY

Charcot-marie-tooth disease subtypes and genetic testing strategies

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

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A Recurrent loss-of-function alanyl-tRNA synthetase (AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N)

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Senataxin mutations and amyotrophic lateral sclerosis

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Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

(2010) Gregory M Cooper et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease

(2009) Jia Huang et al.   JOURNAL OF NEUROLOGY

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

(2009) Michaela Auer-Grumbach et al.   NATURE GENETICS

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4

(2009) Han-Xiang Deng et al.   NATURE GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Exome Sequencing of a Multigenerational Human Pedigree

(2009) Dale Hedges et al.   PLoS One

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2

(2008) H. Houlden et al.   NEUROLOGY