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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en: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
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley and Sons Inc. 2018
Assuntos:
Research Articles
Acceso en liña: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
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares