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genetics

  • MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort
    Marie 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 Cavalli, Norma Beatriz Romero, Teresinha Evangelista, Guilhem Sole, Robert Yves Carlier, Pascal Laforêt, Blandine Acket, Anthony Behin, Gorka Fernández-Eulate, Sarah Léonard-Louis, Susana Quijano-Roy, Yann Pereon, Emmanuelle Salort-Campana, Aleksandra Nadaj-Pakleza, Marion Masingue, Edoardo Malfatti, Tanya Stojkovic, Rocío Nur Villar-Quiles
    Journal of Neurology, Neurosurgery & Psychiatry May 2025, 96 (5) 453-461; DOI: 10.1136/jnnp-2024-334263
  • Genetics impact risk of Alzheimer’s disease through mechanisms modulating structural brain morphology in late life
    Roxanna Korologou-Linden, Bing Xu, Elizabeth Coulthard, Esther Walton, Alfie Wearn, Gibran Hemani, Tonya White, Charlotte Cecil, Tamsin Sharp, Henning Tiemeier, Tobias Banaschewski, Arun Bokde, Sylvane Desrivières, Herta Flor, Antoine Grigis, Hugh Garavan, Penny Gowland, Andreas Heinz, Rüdiger Brühl, Jean-Luc Martinot, Marie-Laure Paillère Martinot, Eric Artiges, Frauke Nees, Dimitri Papadopoulos Orfanos, Tomáš Paus, Luise Poustka, Sabina Millenet, Juliane H Fröhner, Michael Smolka, Henrik Walter, Jeanne Winterer, Robert Whelan, Gunter Schumann, Laura D Howe, Yoav Ben-Shlomo, Neil M Davies, Emma Louise Anderson
    Journal of Neurology, Neurosurgery & Psychiatry Apr 2025, 96 (4) 350-360; DOI: 10.1136/jnnp-2023-332969
  • Navigating the presymptomatic frontier in genetic ALS and FTD
    Maurizio Grassano
    Journal of Neurology, Neurosurgery & Psychiatry Mar 2025, 96 (3) 205-207; DOI: 10.1136/jnnp-2024-334924
  • White matter abnormalities in healthy E200K carriers may serve as an early biomarker for genetic Creutzfeldt-Jakob disease (gCJD)
    Nurit Omer, Amgad Droby, Rawan Silbak, Noa Trablus, Aya Bar David, Tamara Shiner, Yifat Alcalay, Roy Alcalay, Talya Nathan, Avner Thaler, Anat Mirelman, Mali Gana Weisz, Orly Goldstein, Tal Glinka, Avi Orr-Urtreger, Nir Giladi, Noa Bregman
    Journal of Neurology, Neurosurgery & Psychiatry Mar 2025, 96 (3) 226-230; DOI: 10.1136/jnnp-2024-333751
  • Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications
    Alfredo Iacoangeli, Allison A Dilliott, Ahmad Al Khleifat, Peter M Andersen, Nazlı A Başak, Johnathan Cooper-Knock, Philippe Corcia, Philippe Couratier, Mamede deCarvalho, Vivian E Drory, Jonathan D Glass, Marc Gotkine, Yosef M Lerner, Orla Hardiman, John E Landers, Russell L McLaughlin, Jesus S Mora Pardina, Karen Morrison, Susana Pinto, Monica Povedano, Christopher E Shaw, Pamela J Shaw, Vincenzo Silani, Nicola Ticozzi, Philip van Damme, Leonard H van den Berg, Patrick Vourc'h, Markus Weber, Jan Herman Veldink, Project MinE ALS Sequencing Consortium, Richard Dobson, Guy A Rouleau, Ammar Al-Chalabi, Sali M K Farhan
    Journal of Neurology, Neurosurgery & Psychiatry Feb 2025, jnnp-2024-335364; DOI: 10.1136/jnnp-2024-335364
  • Identification of a pathogenic mutation in ARPP21 in patients with amyotrophic lateral sclerosis
    Oriol Dols-Icardo, Álvaro Carbayo, Ivonne Jericó, Olga Blasco-Martínez, Esther Álvarez-Sánchez, Maria Angeles López Pérez, Sara Bernal, Benjamín Rodríguez-Santiago, Ivon Cusco, Janina Turon-Sans, Manuel Cabezas-Torres, Marta Caballero-Ávila, Ana Vesperinas, Laura Llansó, Inmaculada Pagola-Lorz, Laura Torné, Natalia Valle-Tamayo, Laia Muñoz, Sara Rubio-Guerra, Ignacio Illán-Gala, Elena Cortés-Vicente, Ellen Gelpi, Ricard Rojas-García
    Journal of Neurology, Neurosurgery & Psychiatry Feb 2025, 96 (2) 132-139; DOI: 10.1136/jnnp-2024-333834
  • Spinal cord motor neuron phenotypes and polygenic risk scores in sporadic amyotrophic lateral sclerosis: deciphering the disease pathology and therapeutic potential of ropinirole hydrochloride
    Chris Kato, Satoru Morimoto, Shinichi Takahashi, Shinichi Namba, Qingbo S Wang, Yukinori Okada, Hideyuki Okano
    Journal of Neurology, Neurosurgery & Psychiatry Feb 2025, 96 (2) 199-201; DOI: 10.1136/jnnp-2024-333690
  • Intermediate HTT CAG repeats worsen disease severity in amyotrophic lateral sclerosis
    Maurizio Grassano, Antonio Canosa, Sandra D’Alfonso, Lucia Corrado, Giorgia Brodini, Emanuele Koumantakis, Paolo Cugnasco, Umberto Manera, Rosario Vasta, Francesca Palumbo, Letizia Mazzini, Salvatore Gallone, Cristina Moglia, Ramita Dewan, Ruth Chia, Jinhui Ding, Clifton Dalgard, Raphael J Gibbs, Sonja Scholz, Andrea Calvo, Bryan Traynor, Adriano Chio
    Journal of Neurology, Neurosurgery & Psychiatry Jan 2025, 96 (1) 100-102; DOI: 10.1136/jnnp-2024-333998
  • Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy
    Alessandro Bertini, Luca Gentile, Tiziana Cavallaro, Stefano Tozza, Paola Saveri, Massimo Russo, Sara Massucco, Yuri Matteo Falzone, Emilia Bellone, Federica Taioli, Alessandro Geroldi, Giuseppe Occhipinti, Moreno Ferrarini, Eleonora Cavalca, Luca Crivellari, Paola Mandich, Francesca Balistreri, Stefania Magri, Franco Taroni, Stefano Carlo Previtali, Angelo Schenone, Marina Grandis, Fiore Manganelli, Gian Maria Fabrizi, Anna Mazzeo, Davide Pareyson, Chiara Pisciotta
    Journal of Neurology, Neurosurgery & Psychiatry Jan 2025, 96 (1) 47-53; DOI: 10.1136/jnnp-2024-333842
  • Environmental multiple sclerosis (MS) risk factors, genetic MS risk, and brain development in a general paediatric population
    Casper Louk de Mol, Sander Lamballais, Ryan Muetzel, Liesbeth Duijts, Joost Smolders, Tonya White, Rinze Frederik Neuteboom
    Journal of Neurology, Neurosurgery & Psychiatry Nov 2024, jnnp-2024-335053; DOI: 10.1136/jnnp-2024-335053

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