Articles

• Open Access

  PURA-Related Developmental and Epileptic EncephalopathyPhenotypic and Genotypic Spectrum

  Katrine M. Johannesen, Elena Gardella, Cathrine E. Gjerulfsen, Allan Bayat, Rob P.W. Rouhl, Margot Reijnders, Sandra Whalen, Boris Keren, Julien Buratti, Thomas Courtin, Klaas J. Wierenga, Bertrand Isidor, Amélie Piton, Laurence Faivre, Aurore Garde, Sébastien Moutton, Frédéric Tran-Mau-Them, Anne-Sophie Denommé-Pichon, Christine Coubes, Austin Larson, Michael J. Esser, Juan Pablo Appendino, Walla Al-Hertani, Beatriz Gamboni, Alejandra Mampel, Lía Mayorga, Alessandro Orsini, Alice Bonuccelli, Agnese Suppiej, Julien Van-Gils, Julie Vogt, Simona Damioli, Lucio Giordano, Stephanie Moortgat, Elaine Wirrell, Sarah Hicks, Usha Kini, Nathan Noble, Helen Stewart, Shailesh Asakar, Julie S. Cohen, SakkuBai R. Naidu, Ashley Collier, Eva H. Brilstra, Mindy H. Li, Casey Brew, Stefania Bigoni, Davide Ognibene, Elisa Ballardini, Claudia Ruivenkamp, Raffaella Faggioli, Alexandra Afenjar, Diana Rodriguez, David Bick, Devorah Segal, David Coman, Boudewijn Gunning, Orrin Devinsky, Laurie A. Demmer, Theresa Grebe, Dario Pruna, Ida Cursio, Lynn Greenhalgh, Claudio Graziano, Rahul Raman Singh, Gaetano Cantalupo, Marjolaine Willems, Sangeetha Yoganathan, Fernanda Góes, Richard J. Leventer, Davide Colavito, Sara Olivotto, Barbara Scelsa, Andrea V. Andrade, Kelly Ratke, Farha Tokarz, Atiya S. Khan, Clothilde Ormieres, William Benko, Karen Keough, Sotirios Keros, Shanawaz Hussain, Ashlea Franques, Felicia Varsalone, Sabine Grønborg, Cyril Mignot, Delphine Heron, Caroline Nava, Arnaud Isapof, Felippe Borlot, Robyn Whitney, Anne Ronan, Nicola Foulds, Marta Somorai, John Brandsema, Katherine L. Helbig, Ingo Helbig, Xilma R. Ortiz-González, Holly Dubbs, Antonio Vitobello, Mel Anderson, Dominic Spadafore, David Hunt, Rikke S. Møller, Guido Rubboli, the PURA study group

  • Abstract
  • Full Text
  • Full Text (PDF)
• Open Access

  Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic PracticesThe IPaNeMA Study

  Marie Wencel, Aziz Shaibani, Namita A. Goyal, Mazen M. Dimachkie, Jaya Trivedi, Nicholas E. Johnson, Laurie Gutmann, Matthew P. Wicklund, Sankar Bandyopadhay, Angela L. Genge, Miriam L. Freimer, Neelam Goyal, Alan Pestronk, Julaine Florence, Chafic Karam, Jeffrey W. Ralph, Zinah Rasheed, Melissa Hays, Steve Hopkins, Tahseen Mozaffar

  • Abstract
  • Full Text
  • Full Text (PDF)
• Open Access

  Genetic and Functional Analysis of Glycosyltransferase 8 Domain–Containing Protein 1 in Taiwanese Patients With Amyotrophic Lateral Sclerosis

  Pei-Chien Tsai, Kang-Yang Jih, Ting-Yi Shen, Yi-Hong Liu, Kon-Ping Lin, Yi-Chu Liao, Yi-Chung Lee

  • Abstract
  • Full Text
  • Full Text (PDF)
• Open Access

  Phenotype of Patients With Charcot-Marie-Tooth With the p.His123Arg Mutation in GDAP1 in Northern Finland

  Maria Lehtilahti, Mika Kallio, Kari Majamaa, Mikko Kärppä

  • Abstract
  • Full Text
  • Full Text (PDF)
• Open Access

  Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1

  Alison M.R. Castle, Smrithi Salian, Haim Bassan, Efrat Sofrin-Drucker, Raffaella Cusmai, Kristin C. Herman, Delphine Heron, Boris Keren, Devon L. Johnstone, Wendy Mears, Susanne Morlot, Thi Tuyet Mai Nguyen, Rachel Rock, Elliot Stolerman, Julia Russo, William Boyce Burns, Julie R. Jones, Valentina Serpieri, Hannah Wallaschek, Ginevra Zanni, David A. Dyment, Philippe M. Campeau

  • Abstract
  • Full Text
  • Full Text (PDF)
• Open Access

  Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene

  Peter Hackman, Salla M. Rusanen, Mridul Johari, Anna Vihola, Per Harald Jonson, Jaakko Sarparanta, Kati Donner, Päivi Lahermo, Sampo Koivunen, Helena Luque, Merja Soininen, Ibrahim Mahjneh, Mari Auranen, Meharji Arumilli, Marco Savarese, Bjarne Udd

  • Abstract
  • Full Text
  • Full Text (PDF)
• Open Access

  CSF MicroRNAs Reveal Impairment of Angiogenesis and Autophagy in Parkinson Disease

  Alan J. Fowler, Jaeil Ahn, Michaeline Hebron, Timothy Chiu, Reem Ayoub, Sanjana Mulki, Habtom Ressom, Yasar Torres-Yaghi, Barbara Wilmarth, Fernando L. Pagan, Charbel Moussa

  • Abstract
  • Full Text
  • Full Text (PDF)
• Open Access

  Genetic Predisposition to Mosaic Chromosomal Loss Is Associated With Functional Outcome After Ischemic Stroke

  Malin Johansson, Annie Pedersen, John W. Cole, Cecilia Lagging, Arne Lindgren, Jane M. Maguire, Natalia S. Rost, Martin Söderholm, Bradford B. Worrall, Tara M. Stanne, Christina Jern

  • Abstract
  • Full Text
  • Full Text (PDF)
• Open Access

  Diagnosis of Shashi-Pena Syndrome Caused by Chromosomal Rearrangement Using Nanopore Sequencing

  Ya Wang, Jianxin Tan, Yan Wang, An Liu, Fengchang Qiao, Mingtao Huang, Cuiping Zhang, Jing Zhou, Ping Hu, Zhengfeng Xu

  • Abstract
  • Full Text
  • Full Text (PDF)
• Open Access

  Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study

  Maya Patel, Ashley McCormick, Jaclyn Tamaroff, Julia Dunn, Jonathan A. Mitchell, Kimberly Y. Lin, Jennifer Farmer, Christian Rummey, Susan L. Perlman, Martin B. Delatycki, George R. Wilmot, Katherine D. Mathews, Grace Yoon, Joseph Hoyle, Manuela Corti, S.H. Subramony, Theresa Zesiewicz, David Lynch, Shana E. McCormack

  • Abstract
  • Full Text
  • Full Text (PDF)
• Open Access

  Progressive Myoclonus EpilepsiesDiagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases

  Laura Canafoglia, Silvana Franceschetti, Antonio Gambardella, Pasquale Striano, Anna Teresa Giallonardo, Paolo Tinuper, Carlo Di Bonaventura, Roberto Michelucci, Edoardo Ferlazzo, Tiziana Granata, Adriana Magaudda, Laura Licchetta, Alessandro Filla, Angela La Neve, Patrizia Riguzzi, Teresa Anna Cantisani, Martina Fanella, BARBARA CASTELLOTTI, Cinzia Gellera, Melanie Bahlo, Federico Zara, Carolina Courage, Anna-Elina Lehesjoki, Karen L. Oliver, Samuel F. Berkovic

  • Abstract
  • Full Text
  • Full Text (PDF)