Research Articles

• Open Access

  CWH43 Variants Are Associated With Disease Risk and Clinical Phenotypic Measures in Patients With Normal Pressure Hydrocephalus

  Philip W. Tipton, Merve Atik, Alexandra I. Soto-Beasley, Gregory S. Day, Sanjeet S. Grewal, Kaisorn Chaichana, Olga P. Fermo, Colleen T. Ball, Michael G. Heckman, Launia J. White, Zachary S. Quicksall, Joseph S. Reddy, Vijay K. Ramanan, Prashanthi Vemuri, Benjamin D. Elder, Nilufer Ertekin-Taner, Owen Ross, Neill Graff-Radford

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• Open Access

  LAMA2-Related Muscular Dystrophy Across the Life SpanA Cross-sectional Study

  Karlijn Bouman, Jan T. Groothuis, Jonne Doorduin, Nens van Alfen, Floris E.A. Udink ten Cate, Frederik M.A. van den Heuvel, Robin Nijveldt, Erik-Jan Kamsteeg, Anne T.M. Dittrich, Jos M.T. Draaisma, Mirian C.H. Janssen, Baziel G.M. van Engelen, Corrie E. Erasmus, Nicol C. Voermans

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• Genomic Diagnoses for Ectopic Intracerebral Calcifications

  Changrui Xiao, Thomas Cassini, Daniel Benavides, Anusha Ebrahim, David Adams, Camilo Toro

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  Improvement of an External Predictive Model Based on New Information Using a Synthetic Data ApproachApplication to CADASIL

  Henri Chhoa, Hugues Chabriat, Adelina Joanita Anato, Mamadou Bamba, Florent Zittoun, Sylvie Chevret, Lucie Biard

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  Genome-wide Analysis of Motor Progression in Parkinson Disease

  Alejandro Martínez Carrasco, Raquel Real, Michael Lawton, Regina Hertfelder Reynolds, Manuela Tan, Lesley Wu, Nigel Williams, Camille Carroll, Jean-Christophe Corvol, Michele Hu, Donald Grosset, John Hardy, Mina Ryten, Yoav Ben-Shlomo, Maryam Shoai, Huw R. Morris

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  Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy

  Marianela Schiava, Chiseko Ikenaga, Ana Topf, Marta Caballero-Ávila, Tsui-Fen Chou, Shan Li, Feng Wang, Jil Daw, Tanya Stojkovic, Rocio Villar-Quiles, Ichizo Nishino, Michio Inoue, Yukako Nishimori, Yoshihiko Saito, Masahisa Katsuno, Seiya Noda, Chihiro Ito, Mieko Otsuka, Sruthi Nahir, Georgios Manousakis, David Walk, Colin Quinn, Lindsay Alfano, Zarife Sahenk, Giorgio Tasca, Mauro Monforte, Mario Sabatelli, Giulia Bisogni, Anders Oldfors, Anna Rydeliu, Endre Pal, Carmen Paradas, Beatriz Velez, Jan L. De Bleecker, Maria Elena Farugia, Cheryl Longman, Matthew B. Harms, Stuart Ralston, Edmar Zanoteli, Andre Macedo Serafim da Silva, Javier Sotoca, Raul Juntas-Morales, Jorge Bevilacqua, Mireya Balart, Stuart Talbot, Volker Straub, Michela Guglieri, Chiara Marini-Bettolo, Jordi Diaz-Manera, Conrad Chris Weihl

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  Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction

  Jodi Warman-Chardon, Taila Hartley, Aren Elizabeth Marshall, Arran McBride, Madeline Couse, William Macdonald, Mellissa R.W. Mann, Pierre R. Bourque, Ari Breiner, Hanns Lochmüller, John Woulfe, Marcos Loreto Sampaio, Gerd Melkus, Bernard Brais, David A. Dyment, Kym M. Boycott, Kristin Kernohan

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