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Variants in SNAP25 are targets of natural selection and influence verbal performances in women.
Download from link.springer.comMutational analysis of VCP gene in familial amyotrophic lateral sclerosis
Download from www.researchgate.netNeurocognitive Profiles in Duchenne Muscular Dystrophy and Gene Mutation Site
Download from doi.orgTwo novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.
Download from doi.orgMitochondrial defect and PGC-1α dysfunction in parkin-associated familial Parkinson's disease
Download from doi.orgUnusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.
UploadGenotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up
Download from www.researchgate.netGenetic Background Predicts Poor Prognosis in Frontotemporal Lobar Degeneration
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