Correlation of clinical and molecular features in spinal bulbar muscular atrophy

OBJECTIVES: To characterize the clinical and genetic features of spinal bulbar muscular atrophy (SBMA), a rare neurodegenerative disorder caused by the expansion of a CAG repeat in the first exon of the androgen receptor gene, in the United Kingdom. METHODS: We created a national register for SBMA i...

Descripción completa

Detalles Bibliográficos
Autores principales: Fratta, Pietro, Nirmalananthan, Niranjanan, Masset, Luc, Skorupinska, Iwona, Collins, Toby, Cortese, Andrea, Pemble, Sally, Malaspina, Andrea, Fisher, Elizabeth M.C., Greensmith, Linda, Hanna, Michael G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4075620/
https://www.ncbi.nlm.nih.gov/pubmed/24814851
http://dx.doi.org/10.1212/WNL.0000000000000507

Ejemplares similares

Ejemplares similares