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

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  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

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  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

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  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

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  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

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  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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  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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  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

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  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

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