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genetics

  • Beware next-generation sequencing gene panels as the first-line genetic test in Charcot-Marie-Tooth disease
    Christopher J Record, Menelaos Pipis, Roy Poh, James M Polke, Mary M Reilly
    Journal of Neurology, Neurosurgery & Psychiatry Apr 2023, 94 (4) 327-328; DOI: 10.1136/jnnp-2022-330223
  • Genetically determined serum serine level has a novel causal effect on multiple sclerosis risk and predicts disability progression
    Xin Lin, Yuanhao Yang, Valery Fuh-Ngwa, Xianyong Yin, Steve Simpson-Yap, Ingrid van der Mei, Simon A Broadley, Anne-Louise Ponsonby, Ausimmune/ AusLong Investigators Group, Kathryn P Burdon, Bruce V Taylor, Yuan Zhou
    Journal of Neurology, Neurosurgery & Psychiatry Feb 2023, jnnp-2022-330259; DOI: 10.1136/jnnp-2022-330259
  • Gene–environment interactions increase the risk of paediatric-onset multiple sclerosis associated with household chemical exposures
    Zahra Nasr, Vinicius Andreoli Schoeps, Amin Ziaei, Akash Virupakshaiah, Cameron Adams, T Charles Casper, Michael Waltz, John Rose, Moses Rodriguez, Jan-Mendelt Tillema, Tanuja Chitnis, Jennifer S Graves, Leslie Benson, Mary Rensel, Lauren Krupp, Amy T Waldman, Bianca Weinstock-Guttman, Tim Lotze, Benjamin Greenberg, Gregory Aaen, Soe Mar, Teri Schreiner, Janace Hart, Steve Simpson-Yap, Clementina Mesaros, Lisa F Barcellos, Emmanuelle Waubant
    Journal of Neurology, Neurosurgery & Psychiatry Feb 2023, jnnp-2022-330713; DOI: 10.1136/jnnp-2022-330713
  • 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 Jan 2023, jnnp-2022-330152; DOI: 10.1136/jnnp-2022-330152
  • High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease
    Masahiro Uemura, Yuya Hatano, Hiroaki Nozaki, Shoichiro Ando, Hajime Kondo, Akira Hanazono, Akira Iwanaga, Hiroyuki Murota, Yosuke Osakada, Masato Osaki, Masato Kanazawa, Mitsuyasu Kanai, Yoko Shibata, Reiko Saika, Tadashi Miyatake, Hitoshi Aizawa, Takeshi Ikeuchi, Hidekazu Tomimoto, Ikuko Mizuta, Toshiki Mizuno, Tomohiko Ishihara, Osamu Onodera
    Journal of Neurology, Neurosurgery & Psychiatry Jan 2023, 94 (1) 74-81; DOI: 10.1136/jnnp-2022-329917
  • Clinical and genetic analysis of familial neuromyelitis optica spectrum disorder in Chinese: associated with ubiquitin-specific peptidase USP18 gene variants
    Yanyu Chang, Luyao Zhou, Xiaonan Zhong, Ziyan Shi, Xiaobo Sun, Yuge Wang, Rui Li, Youming Long, Hongyu Zhou, Chao Quan, Allan G Kermode, Qingfen Yu, Wei Qiu
    Journal of Neurology, Neurosurgery & Psychiatry Dec 2022, 93 (12) 1269-1275; DOI: 10.1136/jnnp-2022-329623
  • 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
  • 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

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