dc.contributor.author | Kiyan, Esen | |
dc.contributor.author | Solakoglu, S. | |
dc.contributor.author | Deymeer, F. | |
dc.contributor.author | Serdaroglu-Oflazer, P. | |
dc.contributor.author | Parman, Y. | |
dc.contributor.author | Durmuş, Hacer | |
dc.contributor.author | LAVAL, S. H. | |
dc.contributor.author | GOKYIGITI, M. | |
dc.contributor.author | Ertekin, C. | |
dc.contributor.author | ERCAN, I. | |
dc.contributor.author | KARCAGI, V. | |
dc.contributor.author | STRAUB, V. | |
dc.contributor.author | BUSHBY, K. | |
dc.contributor.author | LOCHMUELLER, H. | |
dc.date.accessioned | 2021-03-05T15:06:18Z | |
dc.date.available | 2021-03-05T15:06:18Z | |
dc.date.issued | 2011 | |
dc.identifier.citation | Durmuş H., LAVAL S. H. , Deymeer F., Parman Y., Kiyan E., GOKYIGITI M., Ertekin C., ERCAN I., Solakoglu S., KARCAGI V., et al., "Oculopharyngodistal myopathy is a distinct entity Clinical and genetic features of 47 patients", NEUROLOGY, cilt.76, sa.3, ss.227-235, 2011 | |
dc.identifier.issn | 0028-3878 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_ba69769b-eb35-4fa4-9854-b1de1c6efd09 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/123986 | |
dc.identifier.uri | https://doi.org/10.1212/wnl.0b013e318207b043 | |
dc.description.abstract | Background: Oculopharyngodistal myopathy (OPDM) has been reported as a rare, adult-onset hereditary muscle disease with putative autosomal dominant and autosomal recessive inheritance. Patients with OPDM present with progressive ocular, pharyngeal, and distal limb muscle involvement. The genetic defect causing OPDM has not been elucidated. | |
dc.language.iso | eng | |
dc.subject | Neurology (clinical) | |
dc.subject | Life Sciences | |
dc.subject | Health Sciences | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Nöroloji | |
dc.subject | Neurology | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Tıp | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | Klinik Tıp | |
dc.subject | KLİNİK NEUROLOJİ | |
dc.title | Oculopharyngodistal myopathy is a distinct entity Clinical and genetic features of 47 patients | |
dc.type | Makale | |
dc.relation.journal | NEUROLOGY | |
dc.contributor.department | İstanbul Teknik Üniversitesi , Elektrik-Elektronik , Elektronik Ve Haberleşme Mühendisliği | |
dc.identifier.volume | 76 | |
dc.identifier.issue | 3 | |
dc.identifier.startpage | 227 | |
dc.identifier.endpage | 235 | |
dc.contributor.firstauthorID | 24537 | |