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Paper Details

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Ann Neurol
4
2022
Dominant spinocerebellar ataxias, PNPT1, PNPase, Polyribonucleotide, Polyribonucleotide Nucleotidyltransferase PNPase 1, S1, SCA, SCA25, SCA25 linkage interval, SCA25 locus, Spinocerebellar Ataxia Type 25, ataxia, blood, cytoplasm, dominant ataxia, double-stranded mtRNAs, exome, ganglionopathy, interferonopathies, loci, mtRNA, nonsense variant, patients, premature stop codons, sensory and cerebellar ataxia, splice heterozygous variants, type I interferon
Author NameAffiliation
Melanie BahloThe Walter and Eliza Hall Institute of Medical Research
Melanie BahloUniversity of Melbourne
Elsdon StoreySchool of Public Health and Preventive Medicine, Monash University
Alexis BriceSorbonne Universite, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS
Giovanni StevaninSorbonne Universite, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS
Giovanni StevaninParis Sciences Lettres Research University
Alexandra DurrSorbonne Universite, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS
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