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Neurology Genetics
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A peer-reviewed clinical and translational neurology open access journal
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June 2021; 7 (3)

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The Helix

  • Open Access
    Neurology: Genetics Acknowledgment to Reviewers
    Stefan M. Pulst
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Editorial

  • Open Access
    A Window Into the Myofibrillar Myopathy Proteome
    Teerin Liewluck
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Articles

  • Open Access
    Novel Cysteine-Sparing Hypomorphic NOTCH3 A1604T Mutation Observed in a Family With Migraine and White Matter Lesions
    Snjolaug Arnardottir, Francesca Del Gaudio, Stefanos Klironomos, Eike-Benjamin Braune, Ariane Araujo Lombraña, Daniel V. Oliveira, Shaobo Jin, Helena Karlström, Urban Lendahl, Christina Sjöstrand
    • Abstract
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  • Open Access
    Chromosomal Microarray Analysis in Pregnancies With Corpus Callosum or Posterior Fossa Anomalies
    Lior Greenbaum, Idit Maya, Lena Sagi-Dain, Rivka Sukenik-Halevy, Michal Berkenstadt, Hagith Yonath, Shlomit Rienstein, Adel Shalata, Eldad Katorza, Amihood Singer
    • Abstract
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  • Open Access
    Progressive Ataxia and Neurologic Regression in RFXANK-Associated Bare Lymphocyte Syndrome
    Essa Alharby, Mona Obaid, Mohammed A.O. Elamin, Makki Almuntashri, Ismail Bakhsh, Manar Samman, Roy W.A. Peake, Ali Alasmari, Naif A.M. Almontashiri
    • Abstract
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  • Open Access
    Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy
    Daniel 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
    • Abstract
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  • Open Access
    FLNC-Associated Myofibrillar MyopathyNew Clinical, Functional, and Proteomic Data
    Rudolf 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
    • Abstract
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  • Open Access
    Association of HLA-DQA2 and HLA-B With Moyamoya Disease in the Chinese Han Population
    Jiang Wan, Wei Ling, Zhang Zhengshan, Zuo Xianbo, Duan Lian, Wang Kai
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  • Open Access
    Migrating Focal Seizures and Myoclonic Status in ARV1-Related Encephalopathy
    Francesca Darra, Tommaso Lo Barco, Roberta Opri, Elena Parrini, Claudia Bianchini, Elena Fiorini, Alessandro Simonati, Bernardo Dalla Bernardina, Gaetano Cantalupo, Renzo Guerrini
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  • Open Access
    Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia
    Merel 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
    • Abstract
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  • Open Access
    Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era
    Patrick 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
    • Abstract
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Clinical/Scientific Notes

  • Open Access
    Ataxia-Pancytopenia Syndrome due to a de Novo SAMD9L Mutation
    Josh King-Robson, Joseph Marshall, Frances Smith, Leanne Willoughby, Sahar Mansour, Laszlo Sztriha
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  • Open Access
    Does 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
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  • Open Access
    Familial Lipomas Without Classic Neurofibromatosis-1 Caused by a Missense Germline NF1 Mutation
    Erika Ramirez, Stephanie M. Morris, Tychele N. Turner, David H. Gutmann
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  • Open Access
    Recessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy
    Somayeh Bakhtiari, Abbas Tafakhori, Sheng Chih Jin, Brandon S. Guida, Elham Alehabib, Saghar Firouzbadi, Kaya Bilguvar, Michael C. Fahey, Hossein Darvish, Michael C. Kruer
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Views & Reviews

  • Open Access
    Genetic Influences on Hippocampal SubfieldsAn Emerging Area of Neuroscience Research
    Natalia Vilor-Tejedor, Tavia E. Evans, Hieab H. Adams, José María González-de-Echávarri, José Luis Molinuevo, Roderic Guigo, Juan Domingo Gispert, Grégory Operto
    • Abstract
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Correction

  • African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants
    • Full Text
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