MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohortMarie Bahout, Gianmarco Severa, Emna Kamoun, Françoise Bouhour, Antoine Pegat, Annick Toutain, Emmeline Lagrange, Fanny Duval, Celine Tard, Elisa De la Cruz, Léonard Féasson, Agnès Jacquin-Piques, Pascale Richard, Corinne Métay, Michele CavalliSee the full list of authors
24 October 2024
Huntington’s disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing explorationCarolin Anna Maria Koriath, Fernando Guntoro, Penelope Norsworthy, Egor Dolzhenko, Michael Eberle, Davina J Hensman Moss, Michael Flower, Holger Hummerich, Anne Elizabeth Rosser, Sarah J Tabrizi, Simon Mead, Edward J Wild
23 October 2024
Identification of DAGLA as an autoantibody target in cerebellar ataxiaRamona Miske, Madeleine Scharf, Kathrin Borowski, Ina Specht, Merle Corty, Monika-Johanna Loritz, Frederik Rombach, Guy Laureys, Nadine Rochow, Christiane Radzimski, Linda Schnitter, Dominica Ratuszny, Thomas Skripuletz, Mike P Wattjes, Stefanie HahnSee the full list of authors
25 April 2024
Pathogenesis of multiple sclerosis: genetic, environmental and random mechanismsDouglas S Goodin
2 July 2024
Oral corticosteroid dosage and taper duration at onset in myelin oligodendrocyte glycoprotein antibody-associated disease influences time to first relapseBenjamin P Trewin, Russell C Dale, Jessica Qiu, Melissa Chu, Niroshan Jeyakumar, Fionna Dela Cruz, Jane Andersen, Pakeeran Siriratnam, Kit Kwan M Ma, Todd A Hardy, Anneke van der Walt, Jeanette Lechner-Scott, Helmut Butzkueven, Simon A Broadley, Michael H BarnettSee the full list of authors
14 May 2024
Trajectories of self-reported fatigue following initiation of multiple sclerosis disease-modifying therapySimon Englund, Thomas Frisell, Ying Qu, Kavita Gandhi, Annika Hultén, Marie Kierkegaard, Fredrik Piehl, Elisa Longinetti
14 May 2024
Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwardsJevin M Parmar, Nigel G Laing, Marina L Kennerson, Gianina Ravenscroft
14 May 2024
Algorithmic approach to finding people with multiple sclerosis using routine healthcare data in WalesRichard Nicholas, Emma Clare Tallantyre, James Witts, Ruth Ann Marrie, Elaine M Craig, Sarah Knowles, Owen Rhys Pearson, Katherine Harding, Karim Kreft, J Hawken, Gillian Ingram, Bethan Morgan, Rodden M Middleton, Neil Robertson, UKMS Register Research Group
23 May 2024
Safety and efficacy of aceneuramic acid in GNE myopathy: open-label extension studyNaoki Suzuki, Madoka Mori-Yoshimura, Masahisa Katsuno, Masanori P Takahashi, Satoshi Yamashita, Yasushi Oya, Atsushi Hashizume, Shinichiro Yamada, Masayuki Nakamori, Rumiko Izumi, Masaaki Kato, Hitoshi Warita, Maki Tateyama, Hiroshi Kuroda, Ryuta AsadaSee the full list of authors
5 June 2024
Clinical value of plasma ALZpath pTau217 immunoassay for assessing mild cognitive impairmentSylvain Lehmann, Susanna Schraen-Maschke, Jean-Sébastien Vidal, Constance Delaby, Luc Buee, Frédéric Blanc, Claire Paquet, Bernadette Allinquant, Stéphanie Bombois, Audrey Gabelle, Olivier Hanon, , on behalf of the BALTAZAR study group, Yasmina Boudali, Jacques TouchonSee the full list of authors
24 April 2024