The Helix
Editorial
Articles
- Open AccessNovel Cysteine-Sparing Hypomorphic NOTCH3 A1604T Mutation Observed in a Family With Migraine and White Matter LesionsSnjolaug Arnardottir, Francesca Del Gaudio, Stefanos Klironomos, Eike-Benjamin Braune, Ariane Araujo Lombraña, Daniel V. Oliveira, Shaobo Jin, Helena Karlström, Urban Lendahl, Christina Sjöstrand
- Open AccessChromosomal Microarray Analysis in Pregnancies With Corpus Callosum or Posterior Fossa AnomaliesLior Greenbaum, Idit Maya, Lena Sagi-Dain, Rivka Sukenik-Halevy, Michal Berkenstadt, Hagith Yonath, Shlomit Rienstein, Adel Shalata, Eldad Katorza, Amihood Singer
- Open AccessProgressive Ataxia and Neurologic Regression in RFXANK-Associated Bare Lymphocyte SyndromeEssa Alharby, Mona Obaid, Mohammed A.O. Elamin, Makki Almuntashri, Ismail Bakhsh, Manar Samman, Roy W.A. Peake, Ali Alasmari, Naif A.M. Almontashiri
- Open AccessBiallelic Pathogenic Variants in TNNT3 Associated With Congenital MyopathyDaniel G. Calame, Jawid Fatih, Isabella Herman, Zeynep Coban Akdemir, Haowei Du, Shalini N. Jhangiani, Richard A. Gibbs, Dana Marafi, Davut Pehlivan, Jennifer E. Posey, Timothy Lotze, Pedro Mancias, Meenakshi Bidwai Bhattacharjee, James R. Lupski
- Open AccessFLNC-Associated Myofibrillar MyopathyNew Clinical, Functional, and Proteomic DataRudolf Andre Kley, Yvonne Leber, Bertold Schrank, Heidi Zhuge, Zacharias Orfanos, Julius Kostan, Adekunle Onipe, Dominik Sellung, Anne Katrin Güttsches, Britta Eggers, Frank Jacobsen, Wolfram Kress, Katrin Marcus, Kristina Djinovic-Carugo, Peter F.M. van der Ven, Dieter O. Fürst, Matthias Vorgerd
- Open AccessAssociation of HLA-DQA2 and HLA-B With Moyamoya Disease in the Chinese Han PopulationJiang Wan, Wei Ling, Zhang Zhengshan, Zuo Xianbo, Duan Lian, Wang Kai
- Open AccessMigrating Focal Seizures and Myoclonic Status in ARV1-Related EncephalopathyFrancesca Darra, Tommaso Lo Barco, Roberta Opri, Elena Parrini, Claudia Bianchini, Elena Fiorini, Alessandro Simonati, Bernardo Dalla Bernardina, Gaetano Cantalupo, Renzo Guerrini
- Open AccessNovel TUBA4A Variant Associated With Familial Frontotemporal DementiaMerel O. Mol, Tsz H. Wong, Shamiram Melhem, Sreya Basu, Riccardo Viscusi, Niels Galjart, Annemieke J.M. Rozemuller, Claudia Fallini, John E. Landers, Laura Donker Kaat, Harro Seelaar, Jeroen G.J. van Rooij, John C. van Swieten
- Open AccessDiagnosing Mitochondrial Disorders Remains Challenging in the Omics EraPatrick Forny, Emma Footitt, James E. Davison, Amanda Lam, Cathy E. Woodward, Spyros Batzios, Sanjay Bhate, Anupam Chakrapani, Maureen Cleary, Paul Gissen, Stephanie Grunewald, Jane A. Hurst, Richard Scott, Simon Heales, Thomas S. Jacques, Thomas Cullup, Shamima Rahman
Clinical/Scientific Notes
- Open AccessAtaxia-Pancytopenia Syndrome due to a de Novo SAMD9L MutationJosh King-Robson, Joseph Marshall, Frances Smith, Leanne Willoughby, Sahar Mansour, Laszlo Sztriha
- Open AccessDoes SCA45 Cause Very Late-Onset Pure Cerebellar Ataxia?Thiago Y. Tonholo Silva, Augusto B.R. Rosa, Caio R. Quaio, Dineke Verbeek, José Luiz Pedroso, Orlando Barsottini
- Open AccessFamilial Lipomas Without Classic Neurofibromatosis-1 Caused by a Missense Germline NF1 MutationErika Ramirez, Stephanie M. Morris, Tychele N. Turner, David H. Gutmann
- Open AccessRecessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral PalsySomayeh Bakhtiari, Abbas Tafakhori, Sheng Chih Jin, Brandon S. Guida, Elham Alehabib, Saghar Firouzbadi, Kaya Bilguvar, Michael C. Fahey, Hossein Darvish, Michael C. Kruer
Views & Reviews
- Open AccessGenetic Influences on Hippocampal SubfieldsAn Emerging Area of Neuroscience ResearchNatalia Vilor-Tejedor, Tavia E. Evans, Hieab H. Adams, José María González-de-Echávarri, José Luis Molinuevo, Roderic Guigo, Juan Domingo Gispert, Grégory Operto
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