Online First

February 22, 2018

  • PostScript
    Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy
    Emer O’Connor, Jana Vandrovcova, Enrico Bugiardini, Viorica Chelban, Andreea Manole, Indran Davagnanam, Sarah Wiethoff, Alan Pittman, David S Lynch, Stephanie Efthymiou, Silvia Marino, Adnan Y Manzur, Mark Roberts, Michael G Hanna, Henry Houlden, Emma Matthews, Nicholas W Wood

February 20, 2018

February 19, 2018

February 15, 2018

February 13, 2018

  • Neurodegeneration
    Plasma tau is increased in frontotemporal dementia
    Martha S Foiani, Ione OC Woollacott, Carolin Heller, Martina Bocchetta, Amanda Heslegrave, Katrina M Dick, Lucy L Russell, Charles R Marshall, Simon Mead, Jonathan M Schott, Nick C Fox, Jason D Warren, Henrik Zetterberg, Jonathan D Rohrer

February 10, 2018

February 09, 2018

February 08, 2018

February 07, 2018

February 06, 2018

  • Cognitive neurology
    Downregulation of exosomal miR-204-5p and miR-632 as a biomarker for FTD: a GENFI study
    Raphael Schneider, Paul McKeever, TaeHyung Kim, Caroline Graff, John Cornelis van Swieten, Anna Karydas, Adam Boxer, Howie Rosen, Bruce L Miller, Robert Laforce Jr, Daniela Galimberti, Mario Masellis, Barbara Borroni, Zhaolei Zhang, Lorne Zinman, Jonathan Daniel Rohrer, Maria Carmela Tartaglia, Janice Robertson on behalf of the Genetic FTD Initiative (GENFI)

February 03, 2018

  • Neuromuscular
    Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy
    Anna Sarkozy, Silvia Torelli, Rachael Mein, Matt Henderson, Rahul Phadke, Lucy Feng, Caroline Sewry, Pierpaolo Ala, Michael Yau, Marta Bertoli, Tracey Willis, Simon Hammans, Adnan Manzur, Maria Sframeli, Fiona Norwood, Wojtek Rakowicz, Aleksandar Radunovic, Sujit S Vaidya, Matt Parton, Mark Walker, Silvia Marino, Curtis Offiah, Maria Elena Farrugia, Godwin Mamutse, Chiara Marini-Bettolo, Elizabeth Wraige, David Beeson, Hanns Lochmüller, Volker Straub, Kate Bushby, Rita Barresi, Francesco Muntoni

February 01, 2018

January 31, 2018

January 29, 2018

  • PostScript
    Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study
    Ursula R Moore, Marni Jacobs, Roberto Fernandez-Torron, Jiji Jang, Meredith K James, Anna Mayhew, Laura Rufibach, Plavi Mittal, Michelle Eagle, Avital Cnaan, Pierre G Carlier, Andrew Blamire, Heather Hilsden, Hanns Lochmüller, Ulrike Grieben, Simone Spuler, Carolina Tesi Rocha, John W Day, Kristi J Jones, Diana X Bharucha-Goebel, Emmanuelle Salort-Campana, Matthew Harms, Alan Pestronk, Sabine Krause, Olivia Schreiber-Katz, Maggie C Walter, Carmen Paradas, Jean-Yves Hogrel, Tanya Stojkovic, Shin’ichi Takeda, Madoka Mori-Yoshimura, Elena Bravver, Susan Sparks, Jordi Diaz-Manera, Luca Bello, Claudio Semplicini, Elena Pegoraro, Jerry R Mendell, Kate Bushby, Volker Straub
  • Movement disorders
    Features of GBA-associated Parkinson’s disease at presentation in the UK Tracking Parkinson’s study
    Naveed Malek, Rimona S Weil, Catherine Bresner, Michael A Lawton, Katherine A Grosset, Manuela Tan, Nin Bajaj, Roger A Barker, David J Burn, Thomas Foltynie, John Hardy, Nicholas W Wood, Yoav Ben-Shlomo, Nigel W Williams, Donald G Grosset, Huw R Morris the PRoBaND clinical consortium

January 25, 2018

January 24, 2018

January 20, 2018

January 18, 2018

January 13, 2018

January 11, 2018

January 10, 2018

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