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Mutations in SACS cause atypical and late-onset forms of ARSACS
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Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations
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Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy
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MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2
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Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy
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Geographic distribution and regional origin of 272 cystic fibrosis in European populations