Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations

Journal of Neuropathology and Experimental Neurology

Volumn 73, Issue 5, 2014, Pages 425-441

  Meilleur, Katherine G ^a   Zukosky, Kristen ^b   Medne, Livija ^c   Fequiere, Pierre ^d   Powell Hamilton, Nina ^e   Winder, Thomas L ^f   Alsaman, Abdulaziz ^g,i   El Hattab, Ayman W ^h,i   Dastgir, Jahannaz ^b   Hu, Ying ^b   Donkervoort, Sandra ^b   Golden, Jeffrey A ^j,k   Eagle, Ralph ^l   Finkel, Richard ^m   Scavina, Mena ^e   Hood, Ian C ⁿ   Rorke Adams, Lucy B ^c   Bönnemann, Carsten G ^b  

^a NATIONAL INSTITUTE OF NURSING RESEARCH   (United States)

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^d University of Alabama at Birmingham   (United States)

^e NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^f Prevention Genetics   (United States)

^g KING FAHAD MEDICAL CITY   (Saudi Arabia)

^h Department of Pediatrics Division of Medical Genetics Children's Hospital ^*  (Saudi Arabia)

ⁱ KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^j BRIGHAM AND WOMEN S HOSPITAL   (United States)

^k HARVARD MEDICAL SCHOOL   (United States)

^l THOMAS JEFFERSON UNIVERSITY   (United States)

^m NEMOURS CHILDREN S HOSPITAL   (United States)

ⁿ Office of Medical Examiner   (United States)

more..

Author keywords

Agyria; Congenital muscular dystrophy; Dystroglycanopathy; LARGE; Neuropathology; Polymicrogyria

Indexed keywords

ALPHA DYSTROGLYCAN; CYSTEINE; GLUCURONIC ACID; GLUTAMIC ACID; GLYCOSYLTRANSFERASE; LAMININ; LAMININ 211; LYSINE; NEUREXIN; UNCLASSIFIED DRUG; XYLOSE;

ARTICLE; BRAIN MALFORMATION; CASE REPORT; CHILD; COGNITIVE DEFECT; DISEASE SEVERITY; DYSTROGLYCANOPATHY; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INFANT; LARGE GENE; LIGAND BINDING; MALE; MICROGYRIA; MUSCULAR DYSTROPHY; NEUROIMAGING; NEUROPATHOLOGY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

CHILD; CHILD, PRESCHOOL; DYSTROGLYCANS; FATAL OUTCOME; FEMALE; HOMOZYGOTE; HUMANS; INFANT; MALE; MUSCULAR DYSTROPHIES; MUTATION; N-ACETYLGLUCOSAMINYLTRANSFERASES; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84899586008     PISSN: 00223069     EISSN: 15546578     Source Type: Journal    
DOI: 10.1097/NEN.0000000000000065     Document Type: Article

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