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...

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Bibliografiske detaljer
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: Lippincott Williams & Wilkins 2014
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4075620/
https://ncbi.nlm.nih.gov/pubmed/24814851
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000000507
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