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

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Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy Elizabeth K. Ruzzo, José-Mario Capo-Chichi, Bruria Ben-Zeev, David Chitayat, Hanqian Mao, Andrea L. Pappas, Yuki Hitomi, Yi-Fan Lu, Xiaodi Yao, Fadi F. Hamdan, Kimberly Pelak, Haike Reznik-Wolf, Ifat Bar-Joseph, Danit Oz-Levi, Dorit Lev, Tally Lerman-Sagie, Esther Leshinsky-Silver, Yair Anikster, Edna Ben-Asher, Tsviya Olender, Laurence Colleaux, Jean-Claude Décarie, Susan Blaser, Brenda Banwell, Rasesh B. Joshi, Xiao-Ping He, Lysanne Patry, Rachel J. Silver, Sylvia Dobrzeniecka, Mohammad S. Islam, Abul Hasnat, Mark E. Samuels, Dipendra K. Aryal, Ramona M. Rodriguiz, Yong-hui Jiang, William C. Wetsel, James O. McNamara, Guy A. Rouleau, Debra L. Silver, Doron Lancet, Elon Pras, Grant A. Mitchell, Jacques L. Michaud, David B. Goldstein Neuron Volume 80, Issue 2, Pages 429-441 (October 2013) DOI: 10.1016/j.neuron.2013.08.013 Copyright © 2013 Elsevier Inc. Terms and Conditions

Transcript of Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of...

Page 1: Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy Elizabeth K. Ruzzo, José-Mario Capo-Chichi,

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

Elizabeth K. Ruzzo, José-Mario Capo-Chichi, Bruria Ben-Zeev, David Chitayat, Hanqian Mao, Andrea L. Pappas, Yuki Hitomi, Yi-Fan Lu, Xiaodi Yao, Fadi F. Hamdan, Kimberly Pelak, Haike Reznik-Wolf, Ifat Bar-Joseph, Danit Oz-Levi, Dorit Lev, Tally Lerman-Sagie, Esther Leshinsky-Silver, Yair Anikster, Edna Ben-Asher, Tsviya Olender, Laurence Colleaux, Jean-Claude Décarie, Susan Blaser, Brenda Banwell, Rasesh B. Joshi, Xiao-Ping He, Lysanne Patry, Rachel J. Silver, Sylvia Dobrzeniecka, Mohammad S. Islam, Abul

Hasnat, Mark E. Samuels, Dipendra K. Aryal, Ramona M. Rodriguiz, Yong-hui Jiang, William C. Wetsel, James O. McNamara, Guy A. Rouleau, Debra L. Silver, Doron Lancet, Elon Pras, Grant A. Mitchell, Jacques L. Michaud, David B. Goldstein  

Neuron Volume 80, Issue 2, Pages 429-441 (October 2013)

DOI: 10.1016/j.neuron.2013.08.013

Copyright © 2013 Elsevier Inc. Terms and Conditions

Page 2: Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy Elizabeth K. Ruzzo, José-Mario Capo-Chichi,

Figure 1

Neuron 2013 80, 429-441DOI: (10.1016/j.neuron.2013.08.013) Copyright © 2013 Elsevier Inc. Terms and Conditions

Page 3: Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy Elizabeth K. Ruzzo, José-Mario Capo-Chichi,

Figure 2

Neuron 2013 80, 429-441DOI: (10.1016/j.neuron.2013.08.013) Copyright © 2013 Elsevier Inc. Terms and Conditions

Page 4: Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy Elizabeth K. Ruzzo, José-Mario Capo-Chichi,

Figure 3

Neuron 2013 80, 429-441DOI: (10.1016/j.neuron.2013.08.013) Copyright © 2013 Elsevier Inc. Terms and Conditions

Page 5: Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy Elizabeth K. Ruzzo, José-Mario Capo-Chichi,

Figure 4

Neuron 2013 80, 429-441DOI: (10.1016/j.neuron.2013.08.013) Copyright © 2013 Elsevier Inc. Terms and Conditions

Page 6: Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy Elizabeth K. Ruzzo, José-Mario Capo-Chichi,

Figure 5

Neuron 2013 80, 429-441DOI: (10.1016/j.neuron.2013.08.013) Copyright © 2013 Elsevier Inc. Terms and Conditions