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ATP1A3 Mutation in Adult Rapid-Onset Ataxia. by Kathleen J Sweadner, Camilo Toro, Christopher T Whitlow, Beverly M Snively, Jared F Cook, Laurie J Ozelius, Thomas C Markello, Allison Brashear
Published 2016-01-01
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A dystonia-like movement disorder with brain and spinal neuronal defects is caused by mutation of the mouse laminin β1 subunit, Lamb1 by Yi Bessie Liu, Ambika Tewari, Johnny Salameh, Elena Arystarkhova, Thomas G Hampton, Allison Brashear, Laurie J Ozelius, Kamran Khodakhah, Kathleen J Sweadner
Published 2015-12-01
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Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition by 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
Published 2019-12-01
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Rapid-onset dystonia-parkinsonism is associated with reduced cerebral blood flow without gray matter changes by Christopher T. Whitlow, Christopher T. Whitlow, Christopher T. Whitlow, Christopher T. Whitlow, Kyle M. Atcheson, Beverly M. Snively, Beverly M. Snively, Jared F. Cook, Jeongchul Kim, Ihtsham U. Haq, Kathleen J. Sweadner, Laurie J. Ozelius, Allison Brashear
Published 2023-01-01
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De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome by Alcy Torres, Catherine A. Brownstein, Sahil K. Tembulkar, Kelsey Graber, Casie Genetti, Robin J. Kleiman, Kathleen J. Sweadner, Chrystal Mavros, Kevin X. Liu, Niklas Smedemark-Margulies, Kiran Maski, Edward Yang, Pankaj B. Agrawal, Jiahai Shi, Alan H. Beggs, Eugene D'Angelo, Sarah Hope Lincoln, Devon Carroll, Fatma Dedeoglu, William A. Gahl, Catherine M. Biggs, Kathryn J. Swoboda, Gerard T. Berry, Joseph Gonzalez-Heydrich
Published 2018-09-01
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