Title: | CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations |
Journal : | Acta neuropathologica communications, 8, 1 |
Authors: | Ogasawara M ; Iida A ; Kumutpongpanich T ; Ozaki A ; Oya Y ; Konishi H ; Nakamura A ; Abe R ; Takai H ; Hanajima R ; Doi H ; Tanaka F ; Nakamura H ; Nonaka I ; Wang Z ; Hayashi S ; Noguchi S ; Nishino I |
Material Type: | Article |
Publication Date: | 25/11/2020 |
Size: | p 204 |
Languages: | English |
Keywords: | CGG repeat expansion;NOTCH2NLC;Neuronal intranuclear inclusion disease;Oculopharyngeal muscular dystrophy;Oculopharyngodistal myopathy; |
Pubmed / DOI : | Pubmed : 33239111 / DOI : 10.1186/s40478-020-01084-4 |
N° Profil MNM : | 2020121 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/33239111 |
See also : |