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A novel homozygous VPS11 variant may cause generalized dystonia
Download from onlinelibrary.wiley.comPrimary mitochondrial myopathy
Download from doi.orgLate-onset leukoencephalopathy in a patient with recessive EARS2 mutations
Download from doi.orgDystonia‐ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency
Download from api.wiley.comMutational analysis of COQ2 in patients with MSA in Italy
Upload“Mitochondrial neuropathies”: a survey from the large cohort of the Italian Network
Download from air.unimi.itDevelopment of Therapeutics for C9ORF72 ALS/FTD-related disorders
Download from hdl.handle.netErratum to: Redefining phenotypes associated with mitochondrial DNA single deletion
Download from link.springer.comGenetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy
Download from doi.orgHistologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy
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