Genotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14

Background: Spinocerebellar ataxia type 14 is a rare form of autosomal dominant cerebellar ataxia caused by mutations in protein kinase Cγ gene. Clinically, it presents with a slowly progressive, mainly pure cerebellar ataxia. Methods: Using next generation sequencing, we screened 194 families with...

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Foilsithe in:Mov Disord
Main Authors: Chelban, Viorica, Wiethoff, Sarah, Fabian‐Jessing, Bjørn K., Haridy, Nourelhoda A., Khan, Alaa, Efthymiou, Stephanie, Becker, Esther B. E., O'Connor, Emer, Hersheson, Joshua, Newland, Katrina, Hojland, Allan Thomas, Gregersen, Pernille A., Lindquist, Suzanne G., Petersen, Michael B., Nielsen, Jørgen E., Nielsen, Michael, Wood, Nicholas W., Giunti, Paola, Houlden, Henry
Formáid: Artigo
Teanga:Inglês
Foilsithe: John Wiley and Sons Inc. 2018
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Research Articles
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6175136/
https://ncbi.nlm.nih.gov/pubmed/29603387
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mds.27334
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