Clinical/Scientific Note
- Open AccessCerebellar Ataxia and Peripheral Neuropathy in a Family With PNPLA8-Associated DiseaseBirute Burnyte, Ramune Vilimiene, Kristina Grigalioniene, Irina Adomaitiene, Algirdas Utkus
- Open AccessExtension of the Clinicoradiologic Spectrum of Newly Described End-Truncating LAMB1 VariationsHélène Morel, Laurent Bailly, Cédric Urbanczyk, Dominique Hervé, Stéphane Berroir, Raphaël Le Bouc, Richard Levy, Mylène Meyer, Chaker Aloui, Elisabeth Tournier-Lasserve, Guillaume Mathey
- Open AccessMetabolic Stroke as a Clinical Manifestation of Zhu-Tokita-Takenouchi-Kim SyndromeA Case SeriesAngie El-Said, Jorge Luis Morales, Gian Rossi, Neha Longani
- Open AccessAutosomal Recessive Spinocerebellar Ataxia Type 9 With a Response to Phosphate RepletionA Case ReportShotaro Haji, Ryosuke Miyamoto, Hiroyuki Morino, Yusuke Osaki, Seijiro Tsuji, Ichizo Nishino, Masahiro Abe, Yuishin Izumi
Research Article
- Open AccessSON-Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic MigrainePutative Role of PRRT2Jordan Langford, Lana Vukadin, John C. Carey, Lorenzo D. Botto, Matt Velinder, Rong Mao, Christine E. Miller, Francis Filloux, Eun-Young Erin Ahn
- Open AccessParent-of-Origin Effect on the Age at Symptom Onset in Myotonic Dystrophy Type 2Paloma Gonzalez-Perez, Eleonora S. D'Ambrosio, Vincent Picher-Martel, Kathy Chuang, William S. David, Anthony A. Amato
- Open AccessIdentifying Aging and Alzheimer Disease–Associated Somatic Variations in Excitatory Neurons From the Human Frontal CortexMeng Zhang, Gerard A. Bouland, Henne Holstege, Marcel J.T. Reinders
- Open AccessDistinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical FeaturesJoshua B. Hack, Kyle Horning, Denise M. Juroske Short, John M. Schreiber, Joseph C. Watkins, Michael F. Hammer
- Open AccessExome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic DisordersNika 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)
- Open AccessMachine Learning Approach for the Prediction of Age-Specific Probability of SCA3 and DRPLA by Survival Curve AnalysisYuya Hatano, Tomohiko Ishihara, Sachiko Hirokawa, Osamu Onodera
- Open AccessCircPDS5B Reduction Improves Angiogenesis Following Ischemic Stroke by Regulating MicroRNA-223-3p/NOTCH2 AxisLing Kui, Zongyu Li, Guoyun Wang, Xuzhen Li, Feng Zhao, Yinming Jiao
- Open AccessComplex 4q35 and 10q26 RearrangementsA Challenge for Molecular Diagnosis of Patients With Facioscapulohumeral DystrophyMegane Delourme, Chaix Charlene, Laurene Gerard, Benjamin Ganne, Pierre Perrin, Catherine Vovan, Karine Bertaux, Karine Nguyen, Rafaëlle Bernard, Frederique Magdinier
Acknowledgment to Reviewers
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