Human Genome Epidemiology Literature Finder
Records 1 - 14 (of 14 Records) |
Query Trace: FIG4[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 |
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 |
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. Molecular genetics & genomic medicine 2014 Nov 2 (6): 522-9. DiVincenzo Christina, Elzinga Christopher D, Medeiros Adam C, Karbassi Izabela, Jones Jeremiah R, Evans Matthew C, Braastad Corey D, Bishop Crystal M, Jaremko Malgorzata, Wang Zhenyuan, Liaquat Khalida, Hoffman Carol A, York Michelle D, Batish Sat D, Lupski James R, Higgins Joseph |
Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation. Journal of neurology, neurosurgery, and psychiatry 2017 9 89 (2): 162-168. Dols-Icardo Oriol, García-Redondo Alberto, Rojas-García Ricardo, Borrego-Hernández Daniel, Illán-Gala Ignacio, Muñoz-Blanco José Luís, Rábano Alberto, Cervera-Carles Laura, Juárez-Rufián Alexandra, Spataro Nino, De Luna Noemí, Galán Lucía, Cortes-Vicente Elena, Fortea Juan, Blesa Rafael, Grau-Rivera Oriol, Lleó Alberto, Esteban-Pérez Jesús, Gelpi Ellen, Clarimón Jor |
FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study. European journal of human genetics : EJHG 2017 Jan . Osmanovic Alma, Rangnau Isolde, Kosfeld Anne, Abdulla Susanne, Janssen Claas, Auber Bernd, Raab Peter, Preller Matthias, Petri Susanne, Weber Ruthild |
Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms. Journal of clinical medicine 2020 2 9 (2): . Pensato Viviana, Magri Stefania, Bella Eleonora Dalla, Tannorella Pierpaola, Bersano Enrica, Sorarù Gianni, Gatti Marta, Ticozzi Nicola, Taroni Franco, Lauria Giuseppe, Mariotti Caterina, Gellera Cinz |
The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease. Turkish neurosurgery 2021 6 31 (6): 888-895. Yalcintepe Sinem, Gurkan Hakan, Dogan Ipek Gungor, Demir Selma, Sag Sebnem Ozemri, Kabayegit Zehra Manav, Atli Emine Ikbal, Atli Engin, Eker Damla, Temel Sehime Guls |
Case report: A variant of the FIG4 gene with rapidly progressive amyotrophic lateral sclerosis. Frontiers in neurology 2022 9 13 984866. Yilihamu Mubalake, Liu Xiaolu, Liu Xiaoxuan, Chen Yong, Fan Dongshe |
Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland. Journal of neurology 2022 12 . Leighton Danielle J, Ansari Morad, Newton Judith, Parry David, Cleary Elaine, Colville Shuna, Stephenson Laura, Larraz Juan, Johnson Micheala, Beswick Emily, Wong Michael, Gregory Jenna, Carod Artal Javier, Davenport Richard, Duncan Callum, Morrison Ian, Smith Colin, Swingler Robert, Deary Ian J, Porteous Mary, Aitman Timothy J, Chandran Siddharthan, Gorrie George H, Pal Suvankar, , |
PROK2, HRNR, and FIG4 as potential genetic biomarkers of high bleeding propensity in East Asian patients with acute coronary syndrome using ticagrelor. Pharmacotherapy 2022 Oct . Xiang Qian, Wang Zhe, Mu Guangyan, Xie Qiufen, Liu Zhiyan, Zhou Shuang, Zhang Hanxu, Wang Zining, Hu Kun, Song Hongtao, Yuan Dongdong, Xia Quan, Huang Yan, Cui Yim |
[Genetic distribution in Chinese patients with hereditary peripheral neuropathy]. Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2022 10 54 (5): 874-883. Liu X X, Duan X H, Zhang S, Sun A P, Zhang Y S, Fan D |
Novel Variants in the FIG4 Gene Associated With Chinese Sporadic Amyotrophic Lateral Sclerosis With Slow Progression. Journal of clinical neurology (Seoul, Korea) 2022 1 18 (1): 41-47. Liu Chang-Yun, Lin Ji-Lan, Feng Shu-Yan, Che Chun-Hui, Huang Hua-Pin, Zou Zhang- |
Genetic Polymorphisms Associated with Vincristine Pharmacokinetics and Vincristine-Induced Peripheral Neuropathy in Pediatric Oncology Patients. Cancers 2022 Jul 14 (14): . van de Velde Mirjam E, Uittenboogaard Aniek, Yang Wenjian, Bonten Erik, Cheng Cheng, Pei Deqing, van den Berg Marleen H, van der Sluis Inge M, van den Bos Cor, Abbink Floor C H, van den Heuvel-Eibrink Marry M, Segers Heidi, Chantrain Christophe, van der Werff Ten Bosch Jutte, Willems Leen, Evans William E, Kaspers Gertjan J |
Better safe than sorry-Whole-genome sequencing indicates that missense variants are significant in susceptibility to COVID-19.
PloS one 2023 1 18 (1): e0279356. S?omian Dawid, Szyda Joanna, Dobosz Paula, Stojak Joanna, Michalska-Foryszewska Anna, Sypniewski Mateusz, Liu Jakub, Kotlarz Krzysztof, Suchocki Tomasz, Mroczek Magdalena, St?pie? Maria, Sztromwasser Pawe?, Król Zbigniew |
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