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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 5, 2024. (Total: 232220Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Frontotemporal Dementia and PFN1[original query]
A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts.
Neurobiology of aging 2013 Jun 34 (6): 1708.e1-6.
Ingre Caroline, Landers John E, Rizik Naji, Volk Alexander E, Akimoto Chizuru, Birve Anna, Hübers Annemarie, Keagle Pamela J, Piotrowska Katarzyna, Press Rayomand, Andersen Peter Munch, Ludolph Albert C, Weishaupt Jochen
Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia.
Neurobiology of aging 2013 May 34 (5): 1517.e9-10.
Tiloca Cinzia, Ticozzi Nicola, Pensato Viviana, Corrado Lucia, Del Bo Roberto, Bertolin Cinzia, Fenoglio Chiara, Gagliardi Stella, Calini Daniela, Lauria Giuseppe, Castellotti Barbara, Bagarotti Alessandra, Corti Stefania, Galimberti Daniela, Cagnin Annachiara, Gabelli Carlo, Ranieri Michela, Ceroni Mauro, Siciliano Gabriele, Mazzini Letizia, Cereda Cristina, Scarpini Elio, Sorarù Gianni, Comi Giacomo P, D'Alfonso Sandra, Gellera Cinzia, Ratti Antonia, Landers John E, Silani Vincenzo,
Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia.
Amyotrophic lateral sclerosis & frontotemporal degeneration 2013 Sep 14 (5-6): 463-9.
van Blitterswijk Marka, Baker Matthew C, Bieniek Kevin F, Knopman David S, Josephs Keith A, Boeve Bradley, Caselli Richard, Wszolek Zbigniew K, Petersen Ronald, Graff-Radford Neill R, Boylan Kevin B, Dickson Dennis W, Rademakers Ro
Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis.
Journal of neurology, neurosurgery, and psychiatry 2013 Dec .
Fratta P, Charnock J, Collins T, Devoy A, Howard R, Malaspina A, Orrell R, Sidle K, Clarke J, Shoai M, Lu CH, Hardy J, Plagnol V, Fisher EM
Mutational analysis of TBK1 in Taiwanese patients with amyotrophic lateral sclerosis.
Neurobiology of aging 2016 Apr 40 191.e11-191.e16.
Tsai Pei-Chien, Liu Yi-Chien, Lin Kon-Ping, Liu Yo-Tsen, Liao Yi-Chu, Hsiao Cheng-Tsung, Soong Bing-Wen, Yip Ping-Keung, Lee Yi-Chu
Investigating CCNF mutations in a Taiwanese cohort with amyotrophic lateral sclerosis.
Neurobiology of aging 2017 Oct .
Tsai Pei-Chien, Liao Yi-Chu, Chen Po-Lin, Guo Yuh-Cherng, Chen Ying-Hao, Jih Kang-Yang, Lin Kon-Ping, Soong Bing-Wen, Tsai Ching-Paio, Lee Yi-Chu
Concomitant presence of a novel ARPP21 variant and CNVs in Chinese familial amyotrophic lateral sclerosis-frontotemporal dementia patients.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2024 9 .
Yiying Wang, Runqing Ju, Jingsi Jiang, Le Mao, Xiaogang Li, Min De
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