Research Articles

• Open Access

  Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical Features

  Joshua B. Hack, Kyle Horning, Denise M. Juroske Short, John M. Schreiber, Joseph C. Watkins, Michael F. Hammer

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• Open Access

  SON-Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic MigrainePutative Role of PRRT2

  Jordan Langford, Lana Vukadin, John C. Carey, Lorenzo D. Botto, Matt Velinder, Rong Mao, Christine E. Miller, Francis Filloux, Eun-Young Erin Ahn

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  Identifying Aging and Alzheimer Disease–Associated Somatic Variations in Excitatory Neurons From the Human Frontal Cortex

  Meng Zhang, Gerard A. Bouland, Henne Holstege, Marcel J.T. Reinders

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  Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders

  Nika Schuermans, Hannah Verdin, Jody Ghijsels, Madeleine Hellemans, Elke Debackere, Elke Bogaert, Sofie Symoens, Leslie Naesens, Elien Lecomte, David Crosiers, Bruno Bergmans, Kristof Verhoeven, Bruce Poppe, Guy Laureys, Sarah Herdewyn, Tim Van Langenhove, Patrick Santens, Jan L. De Bleecker, Dimitri Hemelsoet, Bart Dermaut, for Program for Undiagnosed Rare Diseases (UD-PrOZA)

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  Parent-of-Origin Effect on the Age at Symptom Onset in Myotonic Dystrophy Type 2

  Paloma Gonzalez-Perez, Eleonora S. D'Ambrosio, Vincent Picher-Martel, Kathy Chuang, William S. David, Anthony A. Amato

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  CircPDS5B Reduction Improves Angiogenesis Following Ischemic Stroke by Regulating MicroRNA-223-3p/NOTCH2 Axis

  Ling Kui, Zongyu Li, Guoyun Wang, Xuzhen Li, Feng Zhao, Yinming Jiao

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  Machine Learning Approach for the Prediction of Age-Specific Probability of SCA3 and DRPLA by Survival Curve Analysis

  Yuya Hatano, Tomohiko Ishihara, Sachiko Hirokawa, Osamu Onodera

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  Complex 4q35 and 10q26 RearrangementsA Challenge for Molecular Diagnosis of Patients With Facioscapulohumeral Dystrophy

  Megane Delourme, Chaix Charlene, Laurene Gerard, Benjamin Ganne, Pierre Perrin, Catherine Vovan, Karine Bertaux, Karine Nguyen, Rafaëlle Bernard, Frederique Magdinier

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