Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain

BACKGROUND AND OBJECTIVES: To determine the diagnostic efficacy of clinical exome-targeted sequencing (CES) and spinocerebellar ataxia 36 (SCA36) screening in a real-life cohort of patients with cerebellar ataxia (CA) from Eastern Spain. METHODS: A total of 130 unrelated patients with CA, negative f...

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Detalles Bibliográficos
Autores principales: Baviera-Muñoz, Raquel, Carretero-Vilarroig, Lidón, Vázquez-Costa, Juan Francisco, Morata-Martínez, Carlos, Campins-Romeu, Marina, Muelas, Nuria, Sastre-Bataller, Isabel, Martínez-Torres, Irene, Pérez-García, Julia, Sivera, Rafael, Sevilla, Teresa, Vilchez, Juan J., Jaijo, Teresa, Espinós, Carmen, Millán, Jose M., Bataller, Luis, Aller, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9749935/
https://www.ncbi.nlm.nih.gov/pubmed/36530930
http://dx.doi.org/10.1212/NXG.0000000000200038

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