Human Genome Epidemiology Literature Finder
Records 1 - 23 (of 23 Records) |
Query Trace: 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 |
Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland. BMC neurology 2008 8 48. Kaivorinne Anna-Lotta, Krüger Johanna, Kuivaniemi Katja, Tuominen Hannu, Moilanen Virpi, Majamaa Kari, Remes Anne |
CHMP2B mutations are rare in French families with frontotemporal lobar degeneration. Journal of neurology 2010 Dec 257 (12): 2032-6. Ghanim Mustapha, Guillot-Noel Léna, Pasquier Florence, Jornea Ludmila, Deramecourt Vincent, Dubois Bruno, Le Ber Isabelle, Brice Alexis, |
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 are not a cause of frontotemporal lobar degeneration in Finnish patients. European journal of neurology : the official journal of the European Federation of Neurological Societies 2010 Nov 17 (11): 1393-5. Kaivorinne A-L, Krüger J, Udd B, Majamaa K, Remes A |
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 |
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, |
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 |
Association of prostate cancer risk variants with gene expression in normal and tumor tissue. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2015 Jan 24 (1): 255-60. Penney Kathryn L, Sinnott Jennifer A, Tyekucheva Svitlana, Gerke Travis, Shui Irene M, Kraft Peter, Sesso Howard D, Freedman Matthew L, Loda Massimo, Mucci Lorelei A, Stampfer Meir |
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 |
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 |
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 |
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 |
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 |
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, 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 |
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