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Items: 1 to 20 of 68

1.
Yang You, Zhengrong Zhang, Nadia Sultana, Maria Ericsson, Yuka A. Martens, Min Sun, Takahisa Kanekiyo, Seiko Ikezu, Scott A. Shaffer, Tsuneya Ikezu
Sci Adv. 2023 Sep; 9(37): eadi3647. Published online 2023 Sep 15. doi: 10.1126/sciadv.adi3647
PMCID:
PMC10881047
2.
Suad A. Alyamani, Hesham M. Aldhalaan, Mohammed A. Almuhaizea, Musaad F. Abukhalid
Neurosciences (Riyadh) 2023 Jul; 28(3): 195–198. doi: 10.17712/nsj.2023.3.20220131
PMCID:
PMC10519661
3.
Elena Arystarkhova, Mads S. Toustrup-Jensen, Rikke Holm, Jae-Kyun Ko, Kyung Eun Lee, Polina Feschenko, Laurie J. Ozelius, Allison Brashear, Bente Vilsen, Kathleen J. Sweadner
J Biol Chem. 2023 Jan; 299(1): 102758. Published online 2022 Dec 1. doi: 10.1016/j.jbc.2022.102758
PMCID:
PMC9860391
4.
Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A. Brownstein, Muriel Holder-Espinasse, Andrew E. Fry, Andrea H. Németh, George K. Tofaris, Eleanor Hay, Imelda Hughes, Sahar Mansour, Santosh R. Mordekar, Miranda Splitt, Peter D. Turnpenny, Demetria Demetriou, Tamara T. Koopmann, Claudia A.L. Ruivenkamp, Pankaj B. Agrawal, Lucinda Carr, Virginia Clowes, Neeti Ghali, Susan Elizabeth Holder, Jessica Radley, Alison Male, Sanjay M. Sisodiya, Manju A. Kurian, J. Helen Cross, Meena Balasubramanian
Neurology. 2022 Oct 4; 99(14): e1511–e1526. doi: 10.1212/WNL.0000000000200927
PMCID:
PMC9576304
5.
Mary E. Moya‐Mendez, Chiagoziem Ogbonna, Jordan E. Ezekian, Michael B. Rosamilia, Lyndsey Prange, Caridad de la Uz, Jeffrey J. Kim, Taylor Howard, John Garcia, Robert Nussbaum, Rebecca Truty, Thomas E. Callis, Emily Funk, Matthew Heyes, Guy de Lisle Dear, Michael P. Carboni, Salim F. Idriss, Mohamad A. Mikati, Andrew P. Landstrom
J Am Heart Assoc. 2021 Sep 7; 10(17): e019887. Published online 2021 Aug 28. doi: 10.1161/JAHA.120.019887
PMCID:
PMC8649289
6.
Mateusz Biela, Malgorzata Rydzanicz, Krystyna Szymanska, Karolina Pieniawska‐Smiech, Aleksandra Lewandowicz‐Uszynska, Joanna Chruszcz, Lucyna Benben, Malgorzata Kuzior‐Plawiak, Pawel Szyld, Aleksandra Jakubiak, Leszek Szenborn, Rafal Ploski, Robert Smigiel
Mol Genet Genomic Med. 2021 Sep; 9(9): e1772. Published online 2021 Aug 2. doi: 10.1002/mgg3.1772
PMCID:
PMC8457706
7.
Richard S. Smith, Marta Florio, Shyam K. Akula, Jennifer E. Neil, Yidi Wang, R. Sean Hill, Melissa Goldman, Christopher D. Mullally, Nora Reed, Luis Bello-Espinosa, Laura Flores-Sarnat, Fabiola Paoli Monteiro, Casella B. Erasmo, Filippo Pinto e Vairo, Eva Morava, A. James Barkovich, Joseph Gonzalez-Heydrich, Catherine A. Brownstein, Steven A. McCarroll, Christopher A. Walsh
Proc Natl Acad Sci U S A. 2021 Jun 22; 118(25): e2023333118. Published online 2021 Jun 14. doi: 10.1073/pnas.2023333118
PMCID:
PMC8237684
8.
Elena Arystarkhova, Laurie J. Ozelius, Allison Brashear, Kathleen J. Sweadner
J Biol Chem. 2021 Jan-Jun; 296: 100019. Published online 2020 Nov 22. doi: 10.1074/jbc.RA120.015271
PMCID:
PMC7949067
9.
Masayuki Sasaki, Noriko Sumitomo, Yuko Shimizu‐Motohashi, Eri Takeshita, Kenji Kurosawa, Kenjiro Kosaki, Kazuhiro Iwama, Takeshi Mizuguchi, Naomichi Matsumoto
Dev Med Child Neurol. 2021 Jan; 63(1): 111–115. Published online 2020 Sep 7. doi: 10.1111/dmcn.14666
PMCID:
PMC7754140
10.
Simona Balestrini, Mohamad A. Mikati, Reyes Álvarez-García-Rovés, Michael Carboni, Arsen S. Hunanyan, Bassil Kherallah, Melissa McLean, Lyndsey Prange, Elisa De Grandis, Alessandra Gagliardi, Livia Pisciotta, Michela Stagnaro, Edvige Veneselli, Jaume Campistol, Carmen Fons, Leticia Pias-Peleteiro, Allison Brashear, Charlotte Miller, Raquel Samões, Vesna Brankovic, Quasar S. Padiath, Ana Potic, Jacek Pilch, Aikaterini Vezyroglou, Ann M.E. Bye, Andrew M. Davis, Monique M. Ryan, Christopher Semsarian, Georgina Hollingsworth, Ingrid E. Scheffer, Tiziana Granata, Nardo Nardocci, Francesca Ragona, Alexis Arzimanoglou, Eleni Panagiotakaki, Inês Carrilho, Claudio Zucca, Jan Novy, Karolina Dzieżyc, Marek Parowicz, Maria Mazurkiewicz-Bełdzińska, Sarah Weckhuysen, Roser Pons, Sergiu Groppa, Daniel S. Sinden, Geoffrey S. Pitt, Andrew Tinker, Michael Ashworth, Zuzanna Michalak, Maria Thom, J. Helen Cross, Rosaria Vavassori, Juan P. Kaski, Sanjay M. Sisodiya
Neurology. 2020 Nov 24; 95(21): e2866–e2879. doi: 10.1212/WNL.0000000000010794
PMCID:
PMC7734736
11.
Elena Arystarkhova, Ihtsham U. Haq, Timothy Luebbert, Fanny Mochel, Rachel Saunders-Pullman, Susan B. Bressman, Polina Feschenko, Cynthia Salazar, Jared F. Cook, Scott Demarest, Allison Brashear, Laurie J. Ozelius, Kathleen J. Sweadner
Neurobiol Dis.
Published in final edited form as: Neurobiol Dis. 2019 Dec; 132: 104577. Published online 2019 Aug 16. doi: 10.1016/j.nbd.2019.104577
PMCID:
PMC7397496
12.
Ihtsham U. Haq, Beverly M. Snively, Kathleen J. Sweadner, Cynthia K. Suerken, Jared F. Cook, Laurie J. Ozelius, Charlotte Miller, William V. McCall, Christopher Whitlow, Allison Brashear
Mov Disord.
Published in final edited form as: Mov Disord. 2019 Oct; 34(10): 1528–1536. Published online 2019 Jul 30. doi: 10.1002/mds.27801
PMCID:
PMC6879786
13.
Xiaoling Yang, Xiaoxu Yang, Jiaoyang Chen, Shupin Li, Qi Zeng, August Y. Huang, Adam Y. Ye, Zhe Yu, Sheng Wang, Yuwu Jiang, Xiru Wu, Qixi Wu, Liping Wei, Yuehua Zhang
Clin Genet. 2019 Jul; 96(1): 43–52. Published online 2019 Apr 3. doi: 10.1111/cge.13539
PMCID:
PMC6850116
14.
Christian P. Roenn, Melody Li, Vivien R. Schack, Ian C. Forster, Rikke Holm, Mads S. Toustrup-Jensen, Jens P. Andersen, Steven Petrou, Bente Vilsen
J Biol Chem. 2019 Jan 4; 294(1): 269–280. Published online 2018 Nov 8. doi: 10.1074/jbc.RA118.004591
PMCID:
PMC6322875
15.
Kyu-Hee Han, Doo-Yi Oh, Seungmin Lee, Chung Lee, Jin Hee Han, Min Young Kim, Hye-Rim Park, Moo Kyun Park, Nayoung K. D. Kim, Jaekwang Lee, Eunyoung Yi, Jong-Min Kim, Jeong-Whun Kim, Jong-Hee Chae, Seung Ha Oh, Woong-Yang Park, Byung Yoon Choi
Sci Rep. 2017; 7: 16504. Published online 2017 Nov 28. doi: 10.1038/s41598-017-16676-9
PMCID:
PMC5705773
16.
Fatima Jaffer, Andreja Avbersek, Rosaria Vavassori, Carmen Fons, Jaume Campistol, Michela Stagnaro, Elisa De Grandis, Edvige Veneselli, Hendrik Rosewich, Melania Gianotta, Claudio Zucca, Francesca Ragona, Tiziana Granata, Nardo Nardocci, Mohamed Mikati, Ashley R. Helseth, Cyrus Boelman, Berge A. Minassian, Sophia Johns, Sarah I. Garry, Ingrid E. Scheffer, Isabelle Gourfinkel-An, Ines Carrilho, Sarah E. Aylett, Matthew Parton, Michael G. Hanna, Henry Houlden, Brian Neville, Manju A. Kurian, Jan Novy, Josemir W. Sander, Pier D. Lambiase, Elijah R. Behr, Tsveta Schyns, Alexis Arzimanoglou, J. Helen Cross, Juan P. Kaski, Sanjay M. Sisodiya
Brain. 2015 Oct; 138(10): 2859–2874. Published online 2015 Aug 21. doi: 10.1093/brain/awv243
PMCID:
PMC4671482
17.
Eleni Panagiotakaki, Elisa De Grandis, Michela Stagnaro, Erin L. Heinzen, Carmen Fons, Sanjay Sisodiya, Boukje de Vries, Christophe Goubau, Sarah Weckhuysen, David Kemlink, Ingrid Scheffer, Gaëtan Lesca, Muriel Rabilloud, Amna Klich, Alia Ramirez-Camacho, Adriana Ulate-Campos, Jaume Campistol, Melania Giannotta, Marie-Laure Moutard, Diane Doummar, Cecile Hubsch-Bonneaud, Fatima Jaffer, Helen Cross, Fiorella Gurrieri, Danilo Tiziano, Sona Nevsimalova, Sophie Nicole, Brian Neville, Arn M. J. M. van den Maagdenberg, Mohamad Mikati, David B. Goldstein, Rosaria Vavassori, Alexis Arzimanoglou, The Italian IBAHC Consortium, The French AHC Consortium, The International AHC Consortium
Orphanet J Rare Dis. 2015; 10: 123. Published online 2015 Sep 26. doi: 10.1186/s13023-015-0335-5
PMCID:
PMC4583741
18.
Louis Viollet, Gustavo Glusman, Kelley J. Murphy, Tara M. Newcomb, Sandra P. Reyna, Matthew Sweney, Benjamin Nelson, Frederick Andermann, Eva Andermann, Gyula Acsadi, Richard L. Barbano, Candida Brown, Mary E. Brunkow, Harry T. Chugani, Sarah R. Cheyette, Abigail Collins, Suzanne D. DeBrosse, David Galas, Jennifer Friedman, Lee Hood, Chad Huff, Lynn B. Jorde, Mary D. King, Bernie LaSalle, Richard J. Leventer, Aga J. Lewelt, Mylynda B. Massart, Mario R. Mérida, II, Louis J. Ptáček, Jared C. Roach, Robert S. Rust, Francis Renault, Terry D. Sanger, Marcio A. Sotero de Menezes, Rachel Tennyson, Peter Uldall, Yue Zhang, Mary Zupanc, Winnie Xin, Kenneth Silver, Kathryn J. Swoboda
PLoS One. 2015; 10(5): e0127045. Published online 2015 May 21. doi: 10.1371/journal.pone.0127045
PMCID:
PMC4440742
19.
Matthew T. Sweney, Tara M. Newcomb, Kathryn J. Swoboda
Pediatr Neurol.
Published in final edited form as: Pediatr Neurol. 2015 Jan; 52(1): 56–64. Published online 2014 Oct 13. doi: 10.1016/j.pediatrneurol.2014.09.015
PMCID:
PMC4352574
20.
Erin L. Heinzen, Alexis Arzimanoglou, Allison Brashear, Steven J. Clapcote, Fiorella Gurrieri, David B. Goldstein, Sigurður H. Jóhannesson, Mohamad A. Mikati, Brian Neville, Sophie Nicole, Laurie J. Ozelius, Hanne Poulsen, Tsveta Schyns, Kathleen J. Sweadner, Arn van den Maagdenberg, Bente Vilsen, ATP1A3 Working Group
Lancet Neurol.
Published in final edited form as: Lancet Neurol. 2014 May; 13(5): 503–514. doi: 10.1016/S1474-4422(14)70011-0
PMCID:
PMC4238309

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