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genetics

  • Muscle biochemical and pathological diagnosis in Pompe disease
    Yoshihiko Saito, Kimitoshi Nakamura, Tokiko Fukuda, Hideo Sugie, Shinichiro Hayashi, Satoru Noguchi, Ichizo Nishino
    Journal of Neurology, Neurosurgery & Psychiatry Nov 2022, 93 (11) 1142-1145; DOI: 10.1136/jnnp-2022-329085
  • Systematic evaluation of genetic mutations in ALS: a population-based study
    Maurizio Grassano, Andrea Calvo, Cristina Moglia, Luca Sbaiz, Maura Brunetti, Marco Barberis, Federico Casale, Umberto Manera, Rosario Vasta, Antonio Canosa, Sandra D’Alfonso, Lucia Corrado, Letizia Mazzini, Clifton Dalgard, Ramita Karra, Ruth Chia, Bryan Traynor, Adriano Chiò
    Journal of Neurology, Neurosurgery & Psychiatry Nov 2022, 93 (11) 1190-1193; DOI: 10.1136/jnnp-2022-328931
  • Exploring the phenotype of Italian patients with ALS with intermediate ATXN2 polyQ repeats
    Adriano Chio, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurizio Grassano, Rosario Vasta, Francesca Palumbo, Salvatore Gallone, Maura Brunetti, Marco Barberis, Fabiola De Marchi, Clifton Dalgard, Ruth Chia, Gabriele Mora, Barbara Iazzolino, Laura Peotta, Bryan Traynor, Lucia Corrado, Sandra D'Alfonso, Letizia Mazzini, Andrea Calvo
    Journal of Neurology, Neurosurgery & Psychiatry Nov 2022, 93 (11) 1216-1220; DOI: 10.1136/jnnp-2022-329376
  • Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales
    Kiran Samra, Amy Macdougall, Georgia Peakman, Arabella Bouzigues, Martina Bocchetta, David M Cash, Caroline V Greaves, Rhian S Convery, John C van Swieten, Lize C Jiskoot, Harro Seelaar, Fermin Moreno, Raquel Sánchez-Valle, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Barbara Borroni, Elizabeth Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonca, Christopher R Butler, Alexander Gerhard, Simon Ducharme, Isabelle Le Ber, Pietro Tiraboschi, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Jonathan D Rohrer, Lucy L Russell
    Journal of Neurology, Neurosurgery & Psychiatry May 2023, 94 (5) 357-368; DOI: 10.1136/jnnp-2022-330152
  • Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
    Marianela Schiava, Chiseko Ikenaga, Rocío Nur Villar-Quiles, Marta Caballero-Ávila, Ana Topf, Ichizo Nishino, Virginia Kimonis, Bjarne Udd, Benedikt Schoser, Edmar Zanoteli, Paulo Victor Sgobbi Souza, Giorgio Tasca, Thomas Lloyd, Adolfo Lopez-de Munain, Carmen Paradas, Elena Pegoraro, Aleksandra Nadaj-Pakleza, Jan De Bleecker, Umesh Badrising, Alicia Alonso-Jiménez, Anna Kostera-Pruszczyk, Francesc Miralles, Jin-Hong Shin, Jorge Alfredo Bevilacqua, Montse Olivé, Matthias Vorgerd, Rudi Kley, Stefen Brady, Timothy Williams, Cristina Domínguez-González, George K Papadimas, Jodi Warman-Chardon, Kristl G Claeys, Marianne de Visser, Nuria Muelas, Pascal LaForet, Edoardo Malfatti, Lindsay N Alfano, Sruthi S Nair, Georgios Manousakis, Hani A Kushlaf, Matthew B Harms, Christopher Nance, Alba Ramos-Fransi, Carmelo Rodolico, Channa Hewamadduma, Hakan Cetin, Jorge García-García, Endre Pál, Maria Elena Farrugia, Phillipa J Lamont, Colin Quinn, Velina Nedkova-Hristova, Stojan Peric, Sushan Luo, Anders Oldfors, Kate Taylor, Stuart Ralston, Tanya Stojkovic, Conrad Weihl, Jordi Diaz-Manera
    Journal of Neurology, Neurosurgery & Psychiatry Oct 2022, 93 (10) 1099-1111; DOI: 10.1136/jnnp-2022-328921
  • Neuropathology and emerging biomarkers in corticobasal syndrome
    Shunsuke Koga, Keith A Josephs, Ikuko Aiba, Mari Yoshida, Dennis W Dickson
    Journal of Neurology, Neurosurgery & Psychiatry Sep 2022, 93 (9) 919-929; DOI: 10.1136/jnnp-2021-328586
  • Implications of confirmed de novo pathogenic SOD1 mutations
    Johnathan Cooper-Knock
    Journal of Neurology, Neurosurgery & Psychiatry Feb 2022, 93 (2) 118; DOI: 10.1136/jnnp-2021-327935
  • Precision medicine for epilepsies: are we there yet?
    Danielle M. Andrade
    Journal of Neurology, Neurosurgery & Psychiatry Oct 2021, 92 (10) 1032; DOI: 10.1136/jnnp-2021-326697
  • Frailty, lifestyle, genetics and dementia risk
    David D Ward, Janice M Ranson, Lindsay M K Wallace, David J Llewellyn, Kenneth Rockwood
    Journal of Neurology, Neurosurgery & Psychiatry Apr 2022, 93 (4) 343-350; DOI: 10.1136/jnnp-2021-327396
  • Clinical profile of fatal familial insomnia: phenotypic variation in 129 polymorphisms and geographical regions
    Jing Zhang, Min Chu, ZiChen Tian, KeXin Xie, Yue Cui, Li Liu, JiaLi Meng, HaiHan Yan, Yang-Mingyue Ji, Zhuyi Jiang, Tian-Xinyu Xia, Dongxin Wang, Xin Wang, Ye Zhao, Hong Ye, Junjie Li, Lin Wang, Liyong Wu
    Journal of Neurology, Neurosurgery & Psychiatry Mar 2022, 93 (3) 291-297; DOI: 10.1136/jnnp-2021-327247

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