Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism

American Journal of Human Genetics

Volumn 88, Issue 4, 2011, Pages 422-432

  López Hernández, Tania ^a   Ridder, Margreet C ^b   Montolio, Marisol ^a,c   Capdevila Nortes, Xavier ^a   Polder, Emiel ^b   Sirisi, Snia ^a,d   Duarri, Anna ^a,c   Schulte, Uwe ^e   Fakler, Bernd ^e   Nunes, Virginia ^a,c,d   Scheper, Gert C ^b   Martínez, Albert ^a   Estévez, Raúl ^a,c   Van Der Knaap, Marjo S ^b  

^a UNIVERSITY OF BARCELONA   (Spain)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c INSTITUTO DE SALUD CARLOS III   (Spain)

^d BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^e LOGOPHARM GMBH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CELL ADHESION MOLECULE; GLIALCAM; MYELIN; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; ASTROCYTE; AUTISM; BENIGN FAMILIAL MACROCEPHALY; BRAIN CYST; CELL JUNCTION; CLINICAL ARTICLE; DOMINANT INHERITANCE; HUMAN; HUMAN CELL; HUMAN TISSUE; LEUKOENCEPHALOPATHY; MACROCEPHALY; MEGALENCEPHALIC LEUKOENCEPHALOPATHY; MENTAL DEFICIENCY; MUTATION; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BINDING; PROTEIN LOCALIZATION; QUANTITATIVE ANALYSIS; RAT;

AMINO ACID SEQUENCE; ANIMALS; AUTISTIC DISORDER; BRAIN; CELL ADHESION MOLECULES, NEURONAL; CELLS, CULTURED; CYSTS; GENES, DOMINANT; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; MACROCEPHALY; MEMBRANE PROTEINS; MENTAL RETARDATION; MICE; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN BINDING; PROTEIN INTERACTION DOMAINS AND MOTIFS; PROTEINS; RATS; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 79953681874     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.02.009     Document Type: Article

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