Absence of α-and β-dystroglycan is associated with Walker-Warburg syndrome

Neurology

Volumn 84, Issue 21, 2015, Pages 2177-2182

  Riemersma, Moniek ^a,b   Mandel, Hanna ^d,e   Van Beusekom, Ellen ^b   Gazzoli, Isabella ^g   Roscioli, Tony ^b,h   Eran, Ayelet ⁱ   Gershoni Baruch, Ruth ^f   Gershoni, Moran ^j   Pietrokovski, Shmuel ^j   Vissers, Lisenka E ^b   Lefeber, Dirk J ^a   Willemsen, Michèl A ^a   Wevers, Ron A ^a   Van Bokhoven, Hans ^b,c  

^a Department of Neurology ^*  (United States)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY   (Netherlands)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e Metabolic Unit Department of Pediatrics   (Netherlands)

^f TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^g LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^h UNIVERSITY OF NEW SOUTH WALES   (Australia)

ⁱ RAMBAM MEDICAL CENTER   (Israel)

^j WEIZMANN INSTITUTE OF SCIENCE   (Israel)

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Author keywords

[No Author keywords available]

Indexed keywords

ALPHA DYSTROGLYCAN; BETA DYSTROGLYCAN; DAG1 PROTEIN, HUMAN; DYSTROGLYCAN;

ADULT; ARTICLE; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DAG1 GENE; FEMALE; FIBROBLAST; FRAMESHIFT MUTATION; GENE; GENE EXPRESSION; GENE MAPPING; GENE SEQUENCE; GESTATIONAL AGE; HOMOZYGOSITY; HUMAN; HUMAN CELL; MYOTUBE; PRIORITY JOURNAL; PROTEIN FUNCTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; WALKER WARBURG SYNDROME; WESTERN BLOTTING; ARAB; CASE REPORT; CONSANGUINITY; DEFICIENCY; GENETICS; INFANT; ISRAEL; NEWBORN; PATHOLOGY;

ARABS; CONSANGUINITY; DYSTROGLYCANS; FEMALE; FRAMESHIFT MUTATION; HUMANS; INFANT; INFANT, NEWBORN; ISRAEL; WALKER-WARBURG SYNDROME;

EID: 84929901174     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000001615     Document Type: Article

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