Title: | Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy |
Journal : | European journal of neurology |
Authors: | Galimberti V ; Tironi R ; Lerario A ; Scali M ; Del Bo R ; Rodolico C ; Brizzi T ; Gibertini S ; Maggi L ; Mora M ; Toscano A ; Comi GP ; Sciacco M ; Moggio M ; Peverelli L |
Material Type: | Article |
Publisher: | England, 11/2019 |
Languages: | English |
Keywords : | adulthood ; biological markers ; cohort studies ; diagnosis ; Europe (geography) ; neuromuscular disease ; oculopharyngeal muscular dystrophy ; PABPN1 protein |
Keywords: | PABPN1 accumulations;PABPN1 immunofluorescence;oculopharyngeal musclular dystrophy;rimmed vacuoles;tubulofilamentous intranuclear inclusions; |
Pubmed / DOI : | Pubmed : 31769567 / DOI : 10.1111/ene.14131 |
N° Profil MNM : | 2019121 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/31769567 |