cerebellar ataxia - Robuta Search

https://www.sciencedaily.com/releases/2015/03/150323150536.htm Cerebellar ataxia can't be cured, but some cases can be treated | ScienceDaily No cures are possible for most patients who suffer debilitating movement disorders called cerebellar ataxias. But in a few of these disorders, patients can be... cerebellar ataxia some cases https://www.frontiersin.org/journals/cellular-neuroscience/articles/10.3389/fncel.2017.00292/full Frontiers | Motor and Cerebellar Architectural Abnormalities during the Early Progression of Ataxia... Exposing developing cerebellar Purkinje neurons to mutant Ataxin1 (ATXN1) in 82Q SCA1 mice disrupts motor behaviour and cerebellar climbing fibre architectur... https://elifesciences.org/articles/91483v1 Cerebellar nuclei cells produce distinct pathogenic spike signatures in mouse models of ataxia,... Ataxia, dystonia, and tremor phenotypes have distinct and generalizable cerebellar interposed nucleus spike signatures in mice, with defining features... https://pmc.ncbi.nlm.nih.gov/articles/PMC11758811/ Ocular Telangiectasia and Cerebellar Atrophy in Ataxia-Telangiectasia (Louis-Bar Syndrome) - PMC Ataxia-telangiectasia (Louis-Bar syndrome) is a rare genetic disorder characterized by progressive ataxia, ocular telangiectasias, immunodeficiency and... louis bar syndrome ocular telangiectasia cerebellar atrophy https://elifesciences.org/reviewed-preprints/90510v2/reviews Endosomal dysfunction contributes to cerebellar deficits in spinocerebellar ataxia type 6 spinocerebellar ataxia endosomal dysfunction contributes https://www.jci.org/articles/view/20216 JCI - Enhanced neuronal excitability in the absence of neurodegeneration induces cerebellar ataxia in the absence neuronal excitability https://www.jci.org/articles/view/96765/ga JCI - Mutant ataxin1 disrupts cerebellar development in spinocerebellar ataxia type 1 spinocerebellar ataxia jci mutant https://elifesciences.org/articles/90510v1 Endosomal dysfunction contributes to cerebellar deficits in spinocerebellar ataxia type 6 | eLife Changes in the intracellular trafficking of key signaling molecules in endosomes lead to pathophysiology in a rare disease affecting the cerebellum. spinocerebellar ataxia type 6 https://www.jci.org/articles/view/20216/pdf JCI - Enhanced neuronal excitability in the absence of neurodegeneration induces cerebellar ataxia in the absence neuronal excitability https://www.ncbi.nlm.nih.gov/clinvar/RCV003448355/ NM_001001344.3(ATP2B3):c.2105GA (p.Arg702His) AND X-linked progressive cerebellar ataxia - ClinVar... ClinVar archives and aggregates information about relationships among variation and human health. https://www.helsinki.fi/en/researchgroups/rna-processing-by-the-minor-spliceosome/news/u12-snrna-destabilization-linked-to-cerebellar-ataxia U12 snRNA destabilization linked to cerebellar ataxia | RNA processing by the minor spliceosome |... Our new paper in NAR describe the molecular mechanism underlying the cerebellar ataxia disease by a U12 snRNA mutation. In his paper Antto shows that the U12... https://pmc.ncbi.nlm.nih.gov/articles/PMC4133325/ A Home Balance Exercise Program Improves Walking in People with Cerebellar Ataxia - PMC Physical therapy intervention is the primary treatment for gait ataxia and imbalance in individuals with cerebellar damage. Our aim was to determine if a home... https://elifesciences.org/reviewed-preprints/90510v1 Endosomal dysfunction contributes to cerebellar deficits in spinocerebellar ataxia type 6 spinocerebellar ataxia endosomal dysfunction contributes