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Phenotypic convergence of Menkes and Wilson disease
Download from doi.orgHomozygous deletion in MICU1 presenting with fatigue and lethargy in childhood
Download from doi.orgExome sequencing in dementia with Lewy bodies
Download from www.nature.comPhenotypic variability of TRPV4 related neuropathies
Download from www.ncbi.nlm.nih.govFrequency of rare recessive mutations in unexplained late onset cerebellar ataxia
Download from link.springer.comRespiratory chain deficiency in nonmitochondrial disease
Download from doi.orgReply: Evaluation of exome sequencing variation in undiagnosed ataxias
Download from doi.orgClinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB
Download from www.ncbi.nlm.nih.govSPG7 mutations are a common cause of undiagnosed ataxia
Download from www.ncbi.nlm.nih.govExome sequencing in undiagnosed inherited and sporadic ataxias
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