Related references
Note: Only part of the references are listed.Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth Disease
Byung-Ok Choi et al.
HUMAN MUTATION (2012)
Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS
Jamie M. Eskuri et al.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2012)
Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease
Michael N. Weedon et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Exome Sequencing Allows for Rapid Gene Identification in a Charcot-Marie-Tooth Family
Gladys Montenegro et al.
ANNALS OF NEUROLOGY (2011)
The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy
Akiko Abe et al.
JOURNAL OF HUMAN GENETICS (2009)
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome
Barbara Rohkamm et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2007)
Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene
P. A. James et al.
NEUROLOGY (2006)
Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons
Anthony Antonellis et al.
JOURNAL OF NEUROSCIENCE (2006)
The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V
O Dubourg et al.
NEUROLOGY (2006)
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V
A Antonellis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)