9 research outputs found
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome
No full textThe GARS gene is rarely mutated in Japanese patients with Charcot–Marie–Tooth neuropathy
No full textSeipin/BSCL2 mutation screening in sporadic adult-onset upper motor neuron syndromes.
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Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction
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