Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

Neurology

Volumn 73, Issue 12, 2009, Pages 962-969

  Passemard, S ^b,c,f   Titomanlio, L ^b,c,g   Elmaleh, M ^d   Afenjar, A ^h   Alessandri, J L ^k   Andria, G ^g   De Villemeur, T Billette ^i,j   Boespflug Tanguy, O ^l   Burglen, L ^h   Del Giudice, E ^g   Guimiot, F ^e   Hyon, C ^b   Isidor, B ^m   Megarbane A ⁿ   Moog, U ^o   Odent, S ^p   Hernandez, K ^b   Pouvreau, N ^b   Scala, I ^g   Schaer, M ^q   Gressens, P ^c,f   Gerard, B ^b   Verloes, Alain ^a,f   more..

^a Clinique de Genetique Medicale   (France)

^b Department of Genetics ^*

^c Service de Neuropédiatrie

^d Service de Radiologie

^e Service de Foëtopathologie

^f HÔPITAL ROBERT DEBRÉ   (France)

^g UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^h Service de Génétique Clinique   (France)

ⁱ ARMAND TROUSSEAU HOSPITAL   (France)

^j SORBONNE UNIVERSITÉ   (France)

^k Centre Hospitalier Departemental Felix Guyon   (France)

^l UNIVERSITÉ CLERMONT AUVERGNE   (France)

^m UNIVERSITÉ DE NANTES   (France)

ⁿ SAINT JOSEPH UNIVERSITY   (Lebanon)

^o UNIVERSITY OF HEIDELBERG   (Germany)

^p UNIVERSITÉ DE RENNES 1   (France)

^q UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ASPM PROTEIN; BRAIN PROTEIN; UNCLASSIFIED DRUG;

AGE DISTRIBUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BEHAVIOR; BRAIN VENTRICLE DILATATION; CEREBELLUM HYPOPLASIA; CHILD; CINGULATE GYRUS; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITION; CORPUS CALLOSUM AGENESIS; CORTICAL DYSPLASIA; DISEASE SEVERITY; FAMILY; FEMALE; GENE MUTATION; GENE SEQUENCE; HEAD CIRCUMFERENCE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTELLIGENCE QUOTIENT; KIDNEY DYSPLASIA; LANGUAGE DEVELOPMENT; LOSS OF FUNCTION MUTATION; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MICROGYRIA; MOTOR RETARDATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PUBERTY DISORDERS; PYRAMIDAL TRACT; SEIZURE; SHORT STATURE;

EID: 70349667037     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181b8799a     Document Type: Article

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