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Article

Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation.

Journal of neurology - 1 Jul 2010

Hamaguchi Ayumi, Ishida Chiho, Iwasa Kazuo, Abe Akiko, Yamada Masahito

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Identifiers

PMID: 20169446
DOI: 10.1007/s00415-010-5491-x

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation.PMID 20169446Read ↗

[A novel mutation in glycyl-tRNA synthetase caused Charcot-Marie-Tooth disease type 2D with facial and respiratory muscle involvement].Semantic proximity Read ↗

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.Semantic proximity Read ↗

Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.Semantic proximity Read ↗

The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy.Semantic proximity Read ↗

Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type VSemantic proximity Read ↗

An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model.Semantic proximity Read ↗

Aminoacyl-tRNA synthetases in Charcot-Marie-Tooth disease: A gain or a loss?Semantic proximity Read ↗

Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V.Semantic proximity Read ↗

Variants of aminoacyl-tRNA synthetase genes in Charcot-Marie-Tooth disease: A Korean cohort study.Semantic proximity Read ↗

A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.Semantic proximity Read ↗

The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.Semantic proximity Read ↗

Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons.Semantic proximity Read ↗

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