Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14

Spinocerebellar ataxia type 14 (SCA-PRKCG, formerly SCA14) is a rare, slowly progressive disorder caused by conventional mutations in protein kinase Cγ (PKCγ). The disease usually manifests with ataxia, but previous reports suggested PRKCG variants in retinal pathology. To systematically investigate...

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Salvato in:
Dettagli Bibliografici
Pubblicato in:Cerebellum
Autori principali: Ihl, Thomas, Kadas, Ella M., Oberwahrenbrock, Timm, Endres, Matthias, Klockgether, Thomas, Schroeter, Jan, Brandt, Alexander U., Paul, Friedemann, Minnerop, Martina, Doss, Sarah, Schmitz-Hübsch, Tanja, Zimmermann, Hanna G.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer US 2020
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Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7351844/
https://ncbi.nlm.nih.gov/pubmed/32338350
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12311-020-01130-w
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