Title: | Intranuclear Aggregates Precede Clinical Onset in Oculopharyngeal Muscular Dystrophy |
Journal : | Journal of Neuromuscular Diseases, 3, 1 |
Authors: | van der Sluijs BM, Author ; Raz V ; Lammens M ; van den Heuvel LP ; Voermans NC ; van Engelen BG |
Material Type: | Article |
Publication Date: | 2016 |
Size: | p 101 |
Languages: | English |
Keywords : | clinical presentation ; diagnosis ; disease evolution ; medical screening ; mitochondria ; muscle histopathology ; Netherlands ; nuclear inclusions ; observational research ; oculopharyngeal muscular dystrophy ; PABPN1 gene ; presymptomatic stage ; prospective studies ; skeletal muscle ; triplet repeats |
Keywords: | mitochondria;Oculopharyngeal muscular dystrophy;nuclear aggregates;presymptomatic carrier; |
Pubmed / DOI : | DOI : 10.3233/JND-150118 / Pubmed : 27854203 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/27854203 |