neurogenetics

  • Clinical features of NOTCH2NLC-related neuronal intranuclear inclusion disease
    Yun Tian, Lu Zhou, Jing Gao, Bin Jiao, Sizhe Zhang, Qiao Xiao, Jin Xue, Ying Wang, Hui liang, Yaling Liu, Guang Ji, Chenhui Mao, Caiyan Liu, Liling Dong, Long Zhang, Shugang Zhang, Jiping Yi, Guohua Zhao, Yingying Luo, Qiying Sun, Yafang Zhou, Fang Yi, Xiaoyu Chen, Chaojun Zhou, Nina Xie, Mengchuan Luo, Lingyan Yao, Yacen Hu, Mengqi Zhang, Qiuming Zeng, Liangjuan Fang, Hong-Yu Long, Yuanyuan Xie, Ling Weng, Si Chen, Juan Du, Qian Xu, Li Feng, Qing Huang, Xuan Hou, Junpu Wang, Bin Xie, Lin Zhou, Lili Long, Ji-feng Guo, Junling Wang, Xinxiang Yan, Hong Jiang, Hongwei Xu, Ranhui Duan, Beisha Tang, Lu Shen
  • A novel diagnostic approach for patients with adult-onset dystonia
    Martje E van Egmond, Tjerk J Lagrand, Gintaute Lizaitiene, Marenka Smit, Marina A J Tijssen
  • Clinical impact of whole-genome sequencing in patients with early-onset dementia
    Aamira J Huq, Bryony Thompson, Mark F Bennett, Adam Bournazos, Shobhana Bommireddipalli, Alexandra Gorelik, Joshua Schultz, Adrienne Sexton, Rebecca Purvis, Kirsty West, Megan Cotter, Giulia Valente, Andrew Hughes, Moeen Riaz, Maie Walsh, Sarah Farrand, Samantha M Loi, Trevor Kilpatrick, Amy Brodtmann, David Darby, Dhamidhu Eratne, Mark Walterfang, Martin Bruce Delatycki, Elsdon Storey, Michael Fahey, Sandra Cooper, Paul Lacaze, Colin L Masters, Dennis Velakoulis, Melanie Bahlo, Paul A James, Ingrid Winship
  • 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
  • CMT2CC associated with NEFH mutations: a predominantly motor neuronopathy
    Chiara Pisciotta, Davide Pareyson
  • Comparative whole transcriptome analysis of Parkinson’s disease focusing on the efficacy of zonisamide
    Tatsuhiko Naito, Wataru Satake, Pei-Chieng Cha, Kazuhiro Kobayashi, Miho Murata, Tatsushi Toda
  • Diagnostic approach in adult-onset neurometabolic diseases
    Gorka Fernández-Eulate, Christophe Carreau, Jean-François Benoist, Foudil Lamari, Benoit Rucheton, Natalia Shor, Yann Nadjar
  • De novo mutations in SOD1 are a cause of ALS
    Kathrin Müller, Ki-Wook Oh, Angelica Nordin, Sudhan Panthi, Seung Hyun Kim, Frida Nordin, Axel Freischmidt, Albert C Ludolph, Chang Seok Ki, Karin Forsberg, Jochen Weishaupt, Young-Eun Kim, Peter Munch Andersen
  • Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype
    Menelaos Pipis, Andrea Cortese, James M Polke, Roy Poh, Jana Vandrovcova, Matilde Laura, Mariola Skorupinska, Arnaud Jacquier, Raul Juntas-Morales, Philippe Latour, Philippe Petiot, Guilhem Sole, Yves Fromes, Sachit Shah, Julian Blake, Byung-Ok Choi, Ki Wha Chung, Tanya Stojkovic, Alexander M Rossor, Mary M Reilly
  • Precision medicine for epilepsies: are we there yet?
    Danielle M. Andrade

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