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P652: High-yield diagnostic testing of FGF14 repeat expansion in cerebellar ataxia across the North American population by Megan Forrest, Megan Delfeld, Alexander Gary, April Franco, Sanjukta Tawde, Malia Triebold, Widad Abou-Chaar, Vikram Shakkottai, Sharan Srinivasan, Khalaf Bushara, Bernard Brais, David Pellerin, Christopher Gomez, Soma Das
Published 2024-01-01
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A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia by Layne N. Rodden, Christian Rummey, Yi Na Dong, Sarah Lagedrost, Sean Regner, Alicia Brocht, Khalaf Bushara, Martin B. Delatycki, Christopher M. Gomez, Katherine Mathews, Sarah Murray, Susan Perlman, Bernard Ravina, S. H. Subramony, George Wilmot, Theresa Zesiewicz, Alessandra Bolotta, Alain Domissy, Christine Jespersen, Baohu Ji, Elisabetta Soragni, Joel M. Gottesfeld, David R. Lynch
Published 2022-09-01
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