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ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases
Download from link.springer.comSOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis
Download from dx.doi.orgGenes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability
Download from dx.doi.orgSpinal muscular atrophy—recent therapeutic advances for an old challenge
Download from www.nature.comImpaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy
Download from archneur.jamanetwork.comRedefining phenotypes associated with mitochondrial DNA single deletion
Download from www.researchgate.netAdult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family
Download from www.researchgate.netA novel homozygous PLA2G6 mutation causes dystonia-parkinsonism
Download from www.researchgate.netLong Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes
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