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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...
Autores principales: | 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. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer US
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7351844/ https://www.ncbi.nlm.nih.gov/pubmed/32338350 http://dx.doi.org/10.1007/s12311-020-01130-w |
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