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Items: 1 to 20 of 21

1.
Metabolomic Profiling of Asparagine Deprivation in Asparagine Synthetase Deficiency Patient-Derived Cells
Mario C. Chang, Stephen J. Staklinski, Vinay R. Malut, Geraldine L. Pierre, Michael S. Kilberg, Matthew E. Merritt
Nutrients. 2023 Apr; 15(8): 1938. Published online 2023 Apr 18. doi: 10.3390/nu15081938
PMCID:
PMC10145675
ArticlePDF–4.7M
2.
Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
PURVI MAJETHIA, MICHELLE C DO ROSARIO, PARNEET KAUR, KARANVIR, RAAGUL SHANKAR, SUVASINI SHARMA, SHAHYAN SIDDIQUI, ANJU SHUKLA
Ann Hum Genet. Author manuscript; available in PMC 2023 Mar 7.
Published in final edited form as: Ann Hum Genet. 2022 Mar; 86(2): 94–101. Published online 2021 Dec 8. doi: 10.1111/ahg.12452
PMCID:
PMC9990823
ArticlePDF–1.0M
3.
Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency
Stephen J. Staklinski, Sarah Snanoudj, Anne-Marie Guerrot, Catherine Vanhulle, François Lecoquierre, Soumeya Bekri, Michael S. Kilberg
Int J Mol Sci. 2023 Jan; 24(1): 559. Published online 2022 Dec 29. doi: 10.3390/ijms24010559
PMCID:
PMC9820069
ArticlePDF–1.8M
4.
Cellular and molecular characterization of two novel asparagine synthetase gene mutations linked to asparagine synthetase deficiency
Stephen J. Staklinski, Mario C. Chang, Fang Yu, Kathleen Collins Ruff, David N. Franz, Zhijian Qian, Linda B. Bloom, Matthew E. Merritt, Robert McKenna, Michael S. Kilberg
J Biol Chem. 2022 Sep; 298(9): 102385. Published online 2022 Aug 17. doi: 10.1016/j.jbc.2022.102385
PMCID:
PMC9478401
ArticlePDF–4.0M
5.
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: further delineation of the phenotype and genotype
Mohammed Almannai, Dana Marafi, Ghada M.H. Abdel-Salam, Maha S. Zaki, Ruizhi Duan, Daniel Calame, Isabella Herman, Felix SHA Levesque, Hasnaa M Elbendary, Ibrahim Hegazy, Wendy K. Chung, Haluk Kavus, Kolsoum Saeidi, Reza Maroofian, Aqeela AlHashim, Ali Al-Otaibi, Asma Al Madhi, Hager M. Aboalseood, Ali Alasmari, Henry Houlden, Joseph G Gleeson, Jill V Hunter, Jennifer E. Posey, James R. Lupski, Ayman W. El-Hattab
Clin Genet. Author manuscript; available in PMC 2023 May 1.
Published in final edited form as: Clin Genet. 2022 May; 101(5-6): 530–540. Published online 2022 Apr 12. doi: 10.1111/cge.14132
PMCID:
PMC9359317
ArticlePDF–1.2M
6.
Wwox deficiency leads to neurodevelopmental and degenerative neuropathies and glycogen synthase kinase 3β-mediated epileptic seizure activity in mice
Ya-Yun Cheng, Ying-Tsen Chou, Feng-Jie Lai, Ming-Shiou Jan, Tsung-Hao Chang, I-Ming Jou, Pei-Shiuan Chen, Jui-Yen Lo, Shiang-Suo Huang, Nan-Shan Chang, Yung-Tsai Liou, Po-Chih Hsu, Hui-Ching Cheng, Yee-Shin Lin, Li-Jin Hsu
Acta Neuropathol Commun. 2020; 8: 6. Published online 2020 Jan 30. doi: 10.1186/s40478-020-0883-3
PMCID:
PMC6990504
ArticlePDF–3.2M
7.
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability
Nicole J Van Bergen, Yiran Guo, Noraldin Al-Deri, Zhanna Lipatova, Daniela Stanga, Sarah Zhao, Rakhilya Murtazina, Valeriya Gyurkovska, Davut Pehlivan, Tadahiro Mitani, Alper Gezdirici, Jayne Antony, Felicity Collins, Mary J H Willis, Zeynep H Coban Akdemir, Pengfei Liu, Jaya Punetha, Jill V Hunter, Shalini N Jhangiani, Jawid M Fatih, Jill A Rosenfeld, Jennifer E Posey, Richard A Gibbs, Ender Karaca, Sean Massey, Thisara G Ranasinghe, Patrick Sleiman, Chris Troedson, James R Lupski, Michael Sacher, Nava Segev, Hakon Hakonarson, John Christodoulou
Brain. 2020 Jan; 143(1): 112–130. Published online 2019 Dec 3. doi: 10.1093/brain/awz374
Correction in:
Brain. 2020 Mar; 143(3): e24.
PMCID:
PMC6935753
ArticlePDF–1.9M
8.
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities
Renee Bend, Lior Cohen, Melissa T. Carter, Michael J. Lyons, Dmitriy Niyazov, Mohamad A. Mikati, Samantha K. Rojas, Richard E. Person, Yue Si, Ingrid M. Wentzensen, Regeneron Genetics Center, Erin Torti, Jennifer A. Lee, Kym M. Boycott, Lina Basel-Salmon, Carlos R. Ferreira, Claudia Gonzaga-Jauregui
Eur J Hum Genet. 2020 Jan; 28(1): 76–87. Published online 2019 Aug 8. doi: 10.1038/s41431-019-0487-1
PMCID:
PMC6906308
ArticlePDF–2.1M
9.
Characterization of a Novel Variant in Siblings with Asparagine Synthetase Deficiency
Stephanie J. Sacharow, Elizabeth E. Dudenhausen, Carrie L. Lomelino, Lance Rodan, Christelle Moufawad El Achkar, Heather E. Olson, Casie A Genetti, Pankaj B. Agrawal, Robert McKenna, Michael S. Kilberg
Mol Genet Metab. Author manuscript; available in PMC 2019 Mar 1.
Published in final edited form as: Mol Genet Metab. 2018 Mar; 123(3): 317–325. Published online 2017 Dec 20. doi: 10.1016/j.ymgme.2017.12.433
PMCID:
PMC5832599
ArticlePDF–944K
10.
Mixed Neurodevelopmental and Neurodegenerative Pathology in Nhe6-Null Mouse Model of Christianson Syndrome
Meiyu Xu, Qing Ouyang, Jingyi Gong, Matthew F. Pescosolido, Brandon S. Pruett, Sasmita Mishra, Michael Schmidt, Richard N. Jones, Ece D. Gamsiz Uzun, Sofia B. Lizarraga, Eric M. Morrow
eNeuro. 2017 Nov-Dec; 4(6): ENEURO.0388-17.2017. Prepublished online 2017 Dec 26. Published online 2018 Jan 17. doi: 10.1523/ENEURO.0388-17.2017
PMCID:
PMC5771691
ArticlePDF–13M
11.
A Mild Form of COG5 Defect Showing Early-Childhood-Onset Friedreich's-Ataxia-Like Phenotypes with Isolated Cerebellar Atrophy
Young Ok Kim, Misun Yun, Jae-Ho Jeong, Seong Min Choi, Seul Kee Kim, Woong Yoon, Chungoo Park, Yeongjin Hong, Young Jong Woo
J Korean Med Sci. 2017 Nov; 32(11): 1885–1890. Published online 2017 Sep 1. doi: 10.3346/jkms.2017.32.11.1885
PMCID:
PMC5639074
ArticlePDF–1.6M
12.
BRAT1 Mutations Present with a Spectrum of Clinical Severity
Siddharth Srivastava, Heather E. Olson, Julie S. Cohen, Cynthia S. Gubbels, Sharyn Lincoln, Brigette Tippin Davis, Layla Shahmirzadi, Siddharth Gupta, Jonathan Picker, Timothy W. Yu, David T. Miller, Janet S. Soul, Andrea Poretti, SakkuBai Naidu
Am J Med Genet A. Author manuscript; available in PMC 2017 Sep 1.
Published in final edited form as: Am J Med Genet A. 2016 Sep; 170(9): 2265–2273. Published online 2016 Jun 9. doi: 10.1002/ajmg.a.37783
PMCID:
PMC5532882
ArticlePDF–1.6M
13.
Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB
Alan O'Brien, Christian R Marshall, Susan Blaser, Peter N Ray, Grace Yoon
Eur J Hum Genet. 2017 Jun; 25(6): 775–778. Published online 2017 Apr 5. doi: 10.1038/ejhg.2017.39
PMCID:
PMC5477367
ArticlePDF–2.1M
14.
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy
Elisabetta Flex, Marcello Niceta, Serena Cecchetti, Isabelle Thiffault, Margaret G. Au, Alessandro Capuano, Emanuela Piermarini, Anna A. Ivanova, Joshua W. Francis, Giovanni Chillemi, Balasubramanian Chandramouli, Giovanna Carpentieri, Charlotte A. Haaxma, Andrea Ciolfi, Simone Pizzi, Ganka V. Douglas, Kara Levine, Antonella Sferra, Maria Lisa Dentici, Rolph R. Pfundt, Jean-Baptiste Le Pichon, Emily Farrow, Frank Baas, Fiorella Piemonte, Bruno Dallapiccola, John M. Graham, Jr., Carol J. Saunders, Enrico Bertini, Richard A. Kahn, David A. Koolen, Marco Tartaglia
Am J Hum Genet. 2016 Oct 6; 99(4): 962–973. Published online 2016 Sep 22. doi: 10.1016/j.ajhg.2016.08.003
PMCID:
PMC5065658
ArticlePDF–2.1M
15.
Novel Proton MR Spectroscopy Findings in Adenylosuccinate Lyase Deficiency
Maria Zulfiqar, Doris D.M. Lin, Marinette Van der Graaf, Peter B. Barker, Jill A. Fahrner, Sandrine Marie, Eva Morava, Lonneke De Boer, Michel A.A.P Willemsen, Eileen Vining, Alena Horská, Udo Engelke, Ron A. Wevers, Gustavo H.B. Maegawa
J Magn Reson Imaging. Author manuscript; available in PMC 2016 Sep 15.
Published in final edited form as: J Magn Reson Imaging. 2013 Apr; 37(4): 974–980. Published online 2012 Oct 10. doi: 10.1002/jmri.23852
PMCID:
PMC5025321
ArticlePDF–537K
16.
TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family
Hülya Maraş-Genç, Emek Uyur-Yalçın, Rasim Özgür Rosti, Joseph G. Gleeson, Bülent Kara
Turk J Pediatr. Author manuscript; available in PMC 2016 Aug 19.
Published in final edited form as: Turk J Pediatr. 2015 May-Jun; 57(3): 286–289.
PMCID:
PMC4991034
ArticlePDF–259K
17.
Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report
Mohammed Zain Seidahmed, Mustafa A. Salih, Omer B. Abdulbasit, Abdulmohsen Samadi, Khalid Al Hussien, Abeer M. Miqdad, Maha S. Biary, Anas M. Alazami, Ibrahim A. Alorainy, Mohammad M. Kabiraj, Ranad Shaheen, Fowzan S. Alkuraya
BMC Neurol. 2016; 16: 105. Published online 2016 Jul 15. doi: 10.1186/s12883-016-0633-0
PMCID:
PMC4947274
ArticlePDF–1.4M
18.
Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review
Matthias Kettwig, Orly Elpeleg, Eike Wegener, Steffi Dreha-Kulaczewski, Marco Henneke, Jutta Gärtner, Peter Huppke
BMC Neurol. 2016; 16: 74. Published online 2016 May 21. doi: 10.1186/s12883-016-0602-7
PMCID:
PMC4875637
ArticlePDF–3.5M
19.
CCDC88A mutations cause PEHO-like syndrome in humans and mouse
Michael S. Nahorski, Masato Asai, Emma Wakeling, Alasdair Parker, Naoya Asai, Natalie Canham, Susan E. Holder, Ya-Chun Chen, Joshua Dyer, Angela F. Brady, Masahide Takahashi, C. Geoffrey Woods
Brain. 2016 Apr; 139(4): 1036–1044. Published online 2016 Feb 25. doi: 10.1093/brain/aww014
PMCID:
PMC4806221
ArticlePDF–900K
20.
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. Author manuscript; available in PMC 2014 Oct 16.
Published in final edited form as: Neuron. 2013 Oct 16; 80(2): 10.1016/j.neuron.2013.08.013. doi: 10.1016/j.neuron.2013.08.013
PMCID:
PMC3820368
ArticlePDF–1.7M

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