Research Articles

• Open Access

  IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia

  Solveig Heide, Claire-Sophie Davoine, Paulina Cunha, Clarisse Scherer-Gagou, Boris Keren, Giovanni Stevanin, Perrine Charles, Delphine Heron, Alexis Brice, Alexandra Durr

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  mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical DevelopmentNovel Variants, Topographic Mapping, and Clinical Outcomes

  Eric Krochmalnek, Andrea Accogli, Judith St-Onge, Nassima Addour-Boudrahem, Gyan Prakash, Sung-Hoon Kim, Tristan Brunette-Clement, Ghadd Alhajaj, Lina Mougharbel, Elena Bruneau, Kenneth A. Myers, Francois Dubeau, Jason Karamchandani, Jean-Pierre Farmer, Jeffrey Atkinson, Jeffrey Hall, Chantal Chantal Poulin, Bernard Rosenblatt, Joel Lafond-Lapalme, Alexander Weil, Catherine Fallet-Bianco, Steffen Albrecht, Nahum Sonenberg, Jean-Baptiste Riviere, Roy W. Dudley, Myriam Srour

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  Adult Phenotype of SYNGAP1-DEE

  Marlene Rong, Tim Benke, Quratulain Zulfiqar Ali, Ángel Aledo-Serrano, Allan Bayat, Alessandra Rossi, Orrin Devinsky, Farah Qaiser, Anum S. Ali, Alfonso Fasano, Anne S. Bassett, Danielle M. Andrade

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  Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping

  Naga M. Guruju, Vanessa Jump, Richard Lemmers, Silvere Van Der Maarel, Ruby Liu, Babi R. Nallamilli, Suresh Shenoy, Alka Chaubey, Pratik Koppikar, Rajiv Rose, Satish Khadilkar, Madhuri Hegde

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  A Phenotypic Atlas for Huntington Disease Based on Data From the Enroll-HD Cohort Study

  Douglas R. Langbehn, Swati S. Sathe, Clement Loy, Cristina Sampaio, Elizabeth A. Mccusker

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  Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network

  Peter B. Kang, Magali Jorand-Fletcher, Wanfang Zhang, Suzanne W. McDermott, Reba Berry, Chelsea Chambers, Kristen N. Wong, Yara Mohamed, Shiny Thomas, Y Swamy Venkatesh, Christina Westfield, Nedra Whitehead, Nicholas E. Johnson, for the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)

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