Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

Neuron

Volumn 80, Issue 2, 2013, Pages 429-441

  Ruzzo, Elizabeth K ^a   Capo Chichi, José Mario ^b   Ben Zeev, Bruria ^c,d   Chitayat, David ^e,f   Mao, Hanqian ^a   Pappas, Andrea L ^a   Hitomi, Yuki ^a   Lu, Yi Fan ^a   Yao, Xiaodi ^a   Hamdan, Fadi F ^b   Pelak, Kimberly ^a   Reznik Wolf, Haike ^d,g   Bar Joseph, Ifat ^c,d,g   Oz Levi, Danit ^h   Lev, Dorit ^d,i   Lerman Sagie, Tally ^d,i   Leshinsky Silver, Esther ^d,i   Anikster, Yair ^c,d   Ben Asher, Edna ^h   Olender, Tsviya ^h   Colleaux, Laurence ^j   Décarie, Jean Claude ^b   Blaser, Susan ^e   Banwell, Brenda ^k   Joshi, Rasesh B ^a   He, Xiao Ping ^a   Patry, Lysanne ^b   Silver, Rachel J ^f   Dobrzeniecka, Sylvia ^l   Islam, Mohammad S ^m   Hasnat, Abul ^m   Samuels, Mark E ^b   Aryal, Dipendra K ^a   Rodriguiz, Ramona M ^a   Jiang, Yong Hui ^a   Wetsel, William C ^a   McNamara, James O ^a   Rouleau, Guy A ^l,n   Silver, Debra L ^a   Lancet, Doron ^h   Pras, Elon ^c,g   Mitchell, Grant A ^b   Michaud, Jacques L ^b   Goldstein, David B ^a   more..

^a DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MONTREAL   (Canada)

^c SHEBA MEDICAL CENTER   (Israel)

^d TEL AVIV UNIVERSITY   (Israel)

^e HOSPITAL FOR SICK CHILDREN   (Canada)

^f UNIVERSITY OF TORONTO   (Canada)

^g GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

^h WEIZMANN INSTITUTE OF SCIENCE   (Israel)

ⁱ WOLFSON MEDICAL CENTER   (Israel)

^j HÔPITAL NECKER ENFANTS MALADES   (France)

^k CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^l CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^m UNIVERSITY OF DHAKA   (Bangladesh)

ⁿ MCGILL UNIVERSITY   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; ASPARTATE AMMONIA LIGASE; ASPARTIC ACID; GLUTAMINE;

ADOLESCENT; AMINO ACID BLOOD LEVEL; AMINO ACID SUBSTITUTION; AMINO ACID URINE LEVEL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; ASPARAGINE SYNTHETASE GENE; BRAIN ATROPHY; BRAIN DISEASE; BRAIN VENTRICLE DILATATION; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CORTICAL THICKNESS (BRAIN); FEMALE; GENE EXPRESSION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; INTRACTABLE EPILEPSY; LEARNING DISORDER; LOSS OF FUNCTION MUTATION; MALE; MEMORY DISORDER; MICROCEPHALY; MISSENSE MUTATION; MOUSE; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ANIMALS; ASPARTATE-AMMONIA LIGASE; ATROPHY; BRAIN; CHILD; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INFANT, NEWBORN; INTELLECTUAL DISABILITY; MALE; MICE; MICE, TRANSGENIC; MICROCEPHALY; MUTATION, MISSENSE; PEDIGREE; SYNDROME;

EID: 84885758467     PISSN: 08966273     EISSN: 10974199     Source Type: Journal    
DOI: 10.1016/j.neuron.2013.08.013     Document Type: Article

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