Human Genome Epidemiology Literature Finder
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Records 1 - 14 (of 14 Records) |
| Query Trace: Dementia and CHMP2B[original query] |
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| CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2006 Dec 141B (8): 944-6. Rizzu Patrizia, van Mil Saskia E, Anar Burcu, Rosso Sonia M, Donker Kaat Laura, Heutink Peter, van Swieten John |
| 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 |
| Cognitive impairment in the preclinical stage of dementia in FTD-3 CHMP2B mutation carriers: a longitudinal prospective study. Journal of neurology, neurosurgery, and psychiatry 2013 Feb 84 (2): 170-6. Stokholm Jette, Teasdale Thomas W, Johannsen Peter, Nielsen Jorgen E, Nielsen Troels Tolstrup, Isaacs Adrian, Brown Jerry M, Gade Anders, |
| Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients. PloS one 2016 11 (9): e0162592. Guven Gamze, Lohmann Ebba, Bras Jose, Gibbs J Raphael, Gurvit Hakan, Bilgic Basar, Hanagasi Hasmet, Rizzu Patrizia, Heutink Peter, Emre Murat, Erginel-Unaltuna Nihan, Just Walter, Hardy John, Singleton Andrew, Guerreiro Ri |
| Frontotemporal dementia-related gene mutations in clinical dementia patients from a Chinese population. Journal of human genetics 2016 Dec 61 (12): 1003-1008. Shi Zhihong, Liu Shuai, Xiang Lei, Wang Ying, Liu Mengyuan, Liu Shuling, Han Tong, Zhou Yuying, Wang Jinhuan, Cai Li, Gao Shuo, Ji Yo |
| TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3). Neurobiology of aging 2017 Jul . Rostgaard Nina, Roos Peter, Budtz-Jørgensen Esben, Johannsen Peter, Waldemar Gunhild, Nørremølle Anne, Lindquist Suzanne G, Gydesen Susanne, Brown Jeremy M, Collinge John, Isaacs Adrian M, , Nielsen Troels T, Nielsen Jørgen |
| CSF neurofilament light concentration is increased in presymptomatic CHMP2B mutation carriers. Neurology 2017 12 90 (2): e157-e163. Rostgaard Nina, Roos Peter, Portelius Erik, Blennow Kaj, Zetterberg Henrik, Simonsen Anja H, Nielsen Jørgen |
| Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project. Dementia and geriatric cognitive disorders 2018 Feb 45 (1): 1-17. Blue Elizabeth E, Bis Joshua C, Dorschner Michael O, Tsuang Debby W, Barral Sandra M, Beecham Gary, Below Jennifer E, Bush William S, Butkiewicz Mariusz, Cruchaga Carlos, DeStefano Anita, Farrer Lindsay A, Goate Alison, Haines Jonathan, Jaworski Jim, Jun Gyungah, Kunkle Brian, Kuzma Amanda, Lee Jenny J, Lunetta Kathryn L, Ma Yiyi, Martin Eden, Naj Adam, Nato Alejandro Q, Navas Patrick, Nguyen Hiep, Reitz Christiane, Reyes Dolly, Salerno William, Schellenberg Gerard D, Seshadri Sudha, Sohi Harkirat, Thornton Timothy A, Valadares Otto, van Duijn Cornelia, Vardarajan Badri N, Wang Li-San, Boerwinkle Eric, Dupuis Josée, Pericak-Vance Margaret A, Mayeux Richard, Wijsman Ellen M, |
| Genetics of dementia in a Finnish cohort. European journal of human genetics : EJHG 2018 Feb . Pasanen Petra, Myllykangas Liisa, Pöyhönen Minna, Kiviharju Anna, Siitonen Maija, Hardy John, Bras Jose, Paetau Anders, Tienari Pentti J, Guerreiro Rita, Verkkoniemi-Ahola Au |
| Mutation Analysis of the Genes Linked to Early Onset Alzheimer's Disease and Frontotemporal Lobar Degeneration. Journal of Alzheimer's disease : JAD 2019 May . Luukkainen Laura, Helisalmi Seppo, Kytövuori Laura, Ahmasalo Riitta, Solje Eino, Haapasalo Annakaisa, Hiltunen Mikko, Remes Anne M, Krüger Johan |
| 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, Chiò Adriano, Pession Annalisa, Oppi Federico, Salvi Fabrizio, Liguori Rocco, Capellari Sabina, |
| A novel splice-site mutation in CHMP2B associated with frontotemporal dementia: The first report from China and literature review. Molecular genetics & genomic medicine 2023 6 e2222. Chang Li, Ya Wen, Mengqiu Zhao, Yaye Wang, Ping Li, Liang Wang, Shan Wa |
| Endo-lysosomal protein concentrations in CSF from patients with frontotemporal dementia caused by CHMP2B mutation. Alzheimer's & dementia (Amsterdam, Netherlands) 2023 2 15 (1): e12402. Toft Anders, Sjödin Simon, Simonsen Anja Hviid, Ejlerskov Patrick, Roos Peter, Musaeus Christian Sandøe, Henriksen Emil Elbæk, Nielsen Troels Tolstrup, Brinkmalm Ann, Blennow Kaj, Zetterberg Henrik, Nielsen Jørgen Er |
| Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations. Alzheimer's research & therapy 2024 6 16 (1): 127. Haitian Nan, Yeon-Jeong Kim, Min Chu, Dan Li, Jieying Li, Deming Jiang, Yiming Wu, Toshihisa Ohtsuka, Liyong |
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