Ontology highlight
ABSTRACT:
SUBMITTER: Schmidt WM
PROVIDER: S-EPMC4678415 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Schmidt Wolfgang M WM Rutledge S Lane SL Schüle Rebecca R Mayerhofer Benjamin B Züchner Stephan S Boltshauser Eugen E Bittner Reginald E RE
American journal of human genetics 20151112 6
Hereditary ataxias comprise a group of genetically heterogeneous disorders characterized by clinically variable cerebellar dysfunction and accompanied by involvement of other organ systems. The molecular underpinnings for many of these diseases are widely unknown. Previously, we discovered the disruption of Scyl1 as the molecular basis of the mouse mutant mdf, which is affected by neurogenic muscular atrophy, progressive gait ataxia with tremor, cerebellar vermis atrophy, and optic-nerve thinnin ...[more]