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The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients
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STXBP1 encephalopathy : a neurodevelopmental disorder including epilepsy
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- Journal Article
- A1
- open access
Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation
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The core protein to myogenesis NFAT5 forms aggresomes in normal and Duchenne muscular dystrophy myotubes exposed to cell stressors
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RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder