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Paper Details

A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.
Mov Disord
8
2022
ATP, ATP5MC3, Drosophila, Dystonia, Patient, Spastic Paraplegia, adenosine triphosphate, adenosine triphosphate (ATP) synthase membrane subunit C locus 3 gene, autosomal dominant spastic paraplegia, autosomal dominant spastic paraplegia and dystonia, c.318C, c.318C>G, chromosome 2q24-2q31, complex V, dystonia, familial spastic paraplegia and dystonia, fibroblast, mitochondrial complex V, oxygen, p.Asn106Lys, patient, patient-derived fibroblast cell lines, spastic paraplegia, upper-limb dystonia
Author NameAffiliation
Sharon M HomanCincinnati Children's Hospital Medical Center
Peter HederaUniversity of Louisville
Juliane WinkelmannInstitute of Neurogenomics
Juliane WinkelmannInstitute of Human Genetics, Technical University of Munich
Juliane WinkelmannTechnische Universitat Munchen
Juliane Winkelmann
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