Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1

Pediatric Neurology

Volumn 50, Issue 5, 2014, Pages 491-497

  Yiş, Uluç ^a   Uyanik, Gökhan ^b   Rosendahl, Deborah Morris ^c   Çarman, Kürşat Bora ^d   Bayram, Erhan ^a   Heise, Marisol ^b   Cömertpay, Gamze ^e   Kurul, Semra Hiz ^a  

^a DOKUZ EYLUL UNIVERSITY   (Turkey)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c UNIVERSITY OF FREIBURG   (Germany)

^d Gaziantep Children's Hospital Division of Child Neurology ^*  (Turkey)

^e CUKUROVA UNIVERSITY   (Turkey)

Author keywords

muscle eye brain disease; neuroradiology; ophthalmology; POMGNT1 gene; Turkey

Indexed keywords

CREATINE KINASE; N ACETYLGLUCOSAMINYLTRANSFERASE; O MANNOSE BETA N ACETYLGLUCOSAMINYLTRANSFERASE; UNCLASSIFIED DRUG; PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE;

ADOLESCENT; ADULT; ARTICLE; BRAIN CYST; BRAIN VENTRICLE DILATATION; CATARACT; CEREBELLUM DISEASE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; EXON; FEMALE; FOLLOW UP; GENE; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; MALE; MUSCLE EYE BRAIN DISEASE; MUSCLE HYPOTONIA; MUSCULAR DYSTROPHY; POMGNT1 GENE; PONTOCEREBELLAR HYPOPLASIA; PRIORITY JOURNAL; RETINA DETACHMENT; SPASTICITY; TENDON REFLEX; TURKEY (REPUBLIC); WHITE MATTER LESION; BRAIN; FAMILY; GENETICS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE; PRESCHOOL CHILD; TURKEY; VISUAL SYSTEM EXAMINATION; WALKER WARBURG SYNDROME; YOUNG ADULT;

ADOLESCENT; BRAIN; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DIAGNOSTIC TECHNIQUES, OPHTHALMOLOGICAL; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; N-ACETYLGLUCOSAMINYLTRANSFERASES; PHENOTYPE; TURKEY; WALKER-WARBURG SYNDROME; YOUNG ADULT;

EID: 84907597092     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2014.01.008     Document Type: Article

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