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

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

期刊名称Neuron
作者Ruzzo, Elizabeth K.; Capo-Chichi, José-Mario; Ben-Zeev, Bruria; Chitayat, David; Mao, Hanqian; Pappas, Andrea L.; Hitomi, Yuki; Lu, Yi-Fan; Yao, Xiaodi; Hamdan, Fadi F.; Pelak, Kimberly; Reznik-Wolf, Haike; Bar-Joseph, Ifat; Oz-Levi, Danit; Lev, Dorit; Lerman-Sagie, Tally; Leshinsky-Silver, Esther; Anikster, Yair; Ben-Asher, Edna; Olender, Tsviya; Colleaux, Laurence; Décarie, Jean-Claude; Blaser, Susan; Banwell, Brenda; Joshi, Rasesh B.; He, Xiao-Ping; Patry, Lysanne; Silver, Rachel J.; Dobrzeniecka, Sylvia; Islam, Mohammad S.; Hasnat, Abul; Samuels, Mark E.; Aryal, Dipendra K.; Rodriguiz, Ramona M.; Jiang, Yong-hui; Wetsel, William C.; McNamara, James O.; Rouleau, Guy A.; Silver, Debra L.; Lancet, Doron; Pras, Elon; Mitchell, Grant A.; Michaud, Jacques L.; Goldstein, David B.
卷第80卷
期第2期
印刷ISSN0896-6273
文件大小1968.75KB
发表时间2013-10
DOI10.1016/j.neuron.2013.08.013
页码429-441

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