Clinical, Radiological, and Genetic Survey of Patients With Muscle-Eye-Brain Disease Caused by Mutations in POMGNT1

Yis U., Uyanik G., Rosendahl D. M., ÇARMAN K. B., Bayram E., Heise M., ...Daha Fazla

PEDIATRIC NEUROLOGY, cilt.50, sa.5, ss.491-497, 2014 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 50 Sayı: 5
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1016/j.pediatrneurol.2014.01.008
  • Dergi Adı: PEDIATRIC NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.491-497
  • Anahtar Kelimeler: muscle-eye-brain disease, Turkey, POMGNT1 gene, ophthalmology, neuroradiology, CONGENITAL MUSCULAR-DYSTROPHY, WALKER-WARBURG-SYNDROME, ALPHA-DYSTROGLYCAN, ABNORMAL GLYCOSYLATION, PHENOTYPIC SPECTRUM, MEB DISEASE, HYPOGLYCOSYLATION, MIGRATION, FORM
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

BACKGROUND: To evaluate clinical, genetic, and radiologic features of our patients with muscle-eye-brain disease.