Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain

BACKGROUND: Autosomal dominant spinocerebellar ataxia 36 (SCA36) is caused by hexanucleotide repeat expansion in the NOP56 gene. OBJECTIVES: To assess frequency, clinical and genetic features of SCA36 in Eastern Spain. METHODS: NOP56 expansion was tested in a cohort of undiagnosed cerebellar ataxia...

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Detalles Bibliográficos
Autores principales: Baviera‐Muñoz, Raquel, Carretero‐Vilarroig, Lidón, Muelas, Nuria, Sivera, Rafael, Sopena‐Novales, Pablo, Martínez‐Sanchis, Begoña, Sastre‐Bataller, Isabel, Campins‐Romeu, Marina, Martínez‐Torres, Irene, García‐Verdugo, Jose Manuel, Millán, Jose M., Jaijo, Teresa, Aller, Elena, Bataller, Luis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10272893/
https://www.ncbi.nlm.nih.gov/pubmed/37332636
http://dx.doi.org/10.1002/mdc3.13740

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