genetics

  • 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
  • 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, 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
  • Cerebral cavernous malformations do not fall in the spectrum of PIK3CA-related overgrowth
    Jun Zhang, Johnathan Abou-Fadel, Mellisa Renteria, Ofek Belkin, Bixia Chen, Yuan Zhu, Philipp Dammann, Daniele Rigamonti
  • LDL cholesterol is associated with higher AD neuropathology burden independent of APOE
    Aliza P Wingo, Selina M Vattathil, Jiaqi Liu, Wen Fan, David J Cutler, Allan I Levey, Julie A Schneider, David A Bennett, Thomas S Wingo
  • Genetics of validated Parkinson’s disease subtypes in the Oxford Discovery and Tracking Parkinson’s cohorts
    Michael Lawton, Manuela MX Tan, Yoav Ben-Shlomo, Fahd Baig, Thomas Barber, Johannes C Klein, Samuel G Evetts, Stephanie Millin, Naveed Malek, Katherine Grosset, Roger A Barker, Nigel Williams, David J Burn, Thomas Foltynie, Huw R Morris, Nicholas Wood, Donald G Grosset, Michele Tao-Ming Hu
  • Neuropathology and emerging biomarkers in corticobasal syndrome
    Shunsuke Koga, Keith A Josephs, Ikuko Aiba, Mari Yoshida, Dennis W Dickson
  • Muscle biochemical and pathological diagnosis in Pompe disease
    Yoshihiko Saito, Kimitoshi Nakamura, Tokiko Fukuda, Hideo Sugie, Shinichiro Hayashi, Satoru Noguchi, Ichizo Nishino
  • Frailty, lifestyle, genetics and dementia risk
    David D Ward, Janice M Ranson, Lindsay M K Wallace, David J Llewellyn, Kenneth Rockwood
  • 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
  • The heritability of amyloid burden in older adults: the Older Australian Twins Study
    Rebecca Koncz, Anbupalam Thalamuthu, Wei Wen, Vibeke S Catts, Vincent Dore, Teresa Lee, Karen A Mather, Melissa J Slavin, Eva A Wegner, Jiyang Jiang, Julian N Trollor, David Ames, Victor L Villemagne, Christopher C Rowe, Perminder S Sachdev

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