Human Genome Epidemiology Literature Finder
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Query Trace: Amyotrophic Lateral Sclerosis and CHMP2B[original query] |
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FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS. Neurobiology of aging 2011 Mar 32 (3): 553.e13-21. Tsai Ching-Paio, Soong Bing-Wen, Lin Kon-Ping, Tu Pang-Hsien, Lin Jer-Li, Lee Yi-Chu |
Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). PloS one 2010 5 (3): e9872. Cox Laura E, Ferraiuolo Laura, Goodall Emily F, Heath Paul R, Higginbottom Adrian, Mortiboys Heather, Hollinger Hannah C, Hartley Judith A, Brockington Alice, Burness Christine E, Morrison Karen E, Wharton Stephen B, Grierson Andrew J, Ince Paul G, Kirby Janine, Shaw Pamela |
Genetic overlap between apparently sporadic motor neuron diseases. PloS one 2012 7 (11): 11. van Blitterswijk M, Vlam L, van Es MA, van der Pol WL, Hennekam EA, Dooijes D, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH, van den Berg LH |
Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system. Neurobiology of aging 2014 Dec 35 (12): 2881.e11-5. Liu Zhi-Jun, Li Hong-Fu, Tan Guo-He, Tao Qing-Qing, Ni Wang, Cheng Xue-Wen, Xiong Zhi-Qi, Wu Zhi-Yi |
Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers. Neurobiology of aging 2015 Dec . Dekker Annelot M, Seelen Meinie, van Doormaal Perry T C, van Rheenen Wouter, Bothof Reinoud J P, van Riessen Tim, Brands William J, van der Kooi Anneke J, de Visser Marianne, Voermans Nicol C, Pasterkamp R Jeroen, Veldink Jan H, van den Berg Leonard H, van Es Michael |
Targeted next-generation sequencing reveals novel and rare variants in Indian patients with amyotrophic lateral sclerosis. Neurobiology of aging 2018 May . Narain Priyam, Pandey Ashutosh, Gupta Shruti, Gomes James, Bhatia Rohit, Vivekanandan Perum |
The association between repeat number in C9orf72 and phenotypic variability in Turkish patients with frontotemporal lobar degeneration. Neurobiology of aging 2019 1 76 216.e1-216.e7. Erzurumluoglu Ebru, Cilingir Oguz, Ozbabalik Adapinar Belgin Demet, Bilgic Basar, Kocagil Sinem, Ozen Hulya, Durak Aras Beyhan, Yenilmez Cinar, Artan Sevilh |
Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum. Journal of neurology 2021 Mar . Bartoletti-Stella Anna, Vacchiano Veria, De Pasqua Silvia, Mengozzi Giacomo, De Biase Dario, Bartolomei Ilaria, Avoni Patrizia, Rizzo Giovanni, Parchi Piero, Donadio Vincenzo, ChiĆ² Adriano, Pession Annalisa, Oppi Federico, Salvi Fabrizio, Liguori Rocco, Capellari Sabina, |
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