Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 34 Records) |
Query Trace: Amyotrophic Lateral Sclerosis and SQSTM1[original query] |
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SQSTM1 mutations in Han Chinese populations with sporadic amyotrophic lateral sclerosis. Neurobiology of aging 2014 Mar 35 (3): 726.e7-9. Chen Yongping, Zheng Zhen-Zhen, Chen Xueping, Huang Rui, Yang Yuan, Yuan Lixing, Pan Lei, Hadano Shinji, Shang Hui-Fa |
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 |
Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis. Neurobiology of aging 2014 Oct 35 (10): 2423.e1-6. Soong Bing-Wen, Lin Kon-Ping, Guo Yuh-Cherng, Lin Chou-Ching K, Tsai Pei-Chien, Liao Yi-Chu, Lu Yi-Chun, Wang Shuu-Jiun, Tsai Ching-Piao, Lee Yi-Chu |
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. Acta neuropathologica 2014 Sep 128 (3): 397-410. van der Zee Julie, Van Langenhove Tim, Kovacs Gabor G, Dillen Lubina, Deschamps William, Engelborghs Sebastiaan, Mat?j Radoslav, Vandenbulcke Mathieu, Sieben Anne, Dermaut Bart, Smets Katrien, Van Damme Philip, Merlin Céline, Laureys Annelies, Van Den Broeck Marleen, Mattheijssens Maria, Peeters Karin, Benussi Luisa, Binetti Giuliano, Ghidoni Roberta, Borroni Barbara, Padovani Alessandro, Archetti Silvana, Pastor Pau, Razquin Cristina, Ortega-Cubero Sara, Hernández Isabel, Boada Mercè, Ruiz Agustín, de Mendonça Alexandre, Miltenberger-Miltényi Gabriel, do Couto Frederico Simões, Sorbi Sandro, Nacmias Benedetta, Bagnoli Silvia, Graff Caroline, Chiang Huei-Hsin, Thonberg Håkan, Perneczky Robert, Diehl-Schmid Janine, Alexopoulos Panagiotis, Frisoni Giovanni B, Bonvicini Christian, Synofzik Matthis, Maetzler Walter, vom Hagen Jennifer Müller, Schöls Ludger, Haack Tobias B, Strom Tim M, Prokisch Holger, Dols-Icardo Oriol, Clarimón Jordi, Lleó Alberto, Santana Isabel, Almeida Maria Rosário, Santiago Beatriz, Heneka Michael T, Jessen Frank, Ramirez Alfredo, Sanchez-Valle Raquel, Llado Albert, Gelpi Ellen, Sarafov Stayko, Tournev Ivailo, Jordanova Albena, Parobkova Eva, Fabrizi Gian Maria, Testi Silvia, Salmon Eric, Ströbel Thomas, Santens Patrick, Robberecht Wim, De Jonghe Peter, Martin Jean-Jacques, Cras Patrick, Vandenberghe Rik, De Deyn Peter Paul, Cruts Marc, Sleegers Kristel, Van Broeckhoven Christi |
Clinicopathological description of two cases with SQSTM1 gene mutation associated with frontotemporal dementia. Neuropathology : official journal of the Japanese Society of Neuropathology 2015 Aug . Kovacs Gabor G, van der Zee Julie, Hort Jakub, Kristoferitsch Wolfgang, Leitha Thomas, Höftberger Romana, Ströbel Thomas, Van Broeckhoven Christine, Matej Radosl |
Mutational analysis of MATR3 in Taiwanese patients with amyotrophic lateral sclerosis. Neurobiology of aging 2015 May 36 (5): 2005.e1-4. Lin Kon-Ping, Tsai Pei-Chien, Liao Yi-Chu, Chen Wei-Ting, Tsai Ching-Piao, Soong Bing-Wen, Lee Yi-Chu |
Six SQSTM1 mutations in a Chinese amyotrophic lateral sclerosis cohort. Amyotrophic lateral sclerosis & frontotemporal degeneration 2015 Feb 1-7. Yang Yi, Tang Lu, Zhang Nan, Pan Lei, Hadano Shinji, Fan Dongshe |
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science (New York, N.Y.) 2015 Mar 347 (6229): 1436-41. Cirulli Elizabeth T, Lasseigne Brittany N, Petrovski Slavé, Sapp Peter C, Dion Patrick A, Leblond Claire S, Couthouis Julien, Lu Yi-Fan, Wang Quanli, Krueger Brian J, Ren Zhong, Keebler Jonathan, Han Yujun, Levy Shawn E, Boone Braden E, Wimbish Jack R, Waite Lindsay L, Jones Angela L, Carulli John P, Day-Williams Aaron G, Staropoli John F, Xin Winnie W, Chesi Alessandra, Raphael Alya R, McKenna-Yasek Diane, Cady Janet, Vianney de Jong J M B, Kenna Kevin P, Smith Bradley N, Topp Simon, Miller Jack, Gkazi Athina, , Al-Chalabi Ammar, van den Berg Leonard H, Veldink Jan, Silani Vincenzo, Ticozzi Nicola, Shaw Christopher E, Baloh Robert H, Appel Stanley, Simpson Ericka, Lagier-Tourenne Clotilde, Pulst Stefan M, Gibson Summer, Trojanowski John Q, Elman Lauren, McCluskey Leo, Grossman Murray, Shneider Neil A, Chung Wendy K, Ravits John M, Glass Jonathan D, Sims Katherine B, Van Deerlin Vivianna M, Maniatis Tom, Hayes Sebastian D, Ordureau Alban, Swarup Sharan, Landers John, Baas Frank, Allen Andrew S, Bedlack Richard S, Harper J Wade, Gitler Aaron D, Rouleau Guy A, Brown Robert, Harms Matthew B, Cooper Gregory M, Harris Tim, Myers Richard M, Goldstein David |
The distinct genetic pattern of ALS in Turkey and novel mutations. Neurobiology of aging 2015 Apr 36 (4): 1764.e9-18. Özo?uz Asl?han, Uyan Özgün, Birdal Güne?, Iskender Ceren, Kartal Ece, Lahut Suna, Ömür Özgür, Agim Zeynep Sena, Eken Asl? Gündo?du, Sen Nesli Ece, Kavak P?nar, Sayg? Ceren, Sapp Peter C, Keagle Pamela, Parman Ye?im, Tan Ersin, Koç Filiz, Deymeer Feza, Oflazer Piraye, Hana?as? Ha?met, Gürvit Hakan, Bilgiç Ba?ar, Durmu? Hacer, Erta? Mustafa, Kotan Dilcan, Akal?n Mehmet Ali, Güllüo?lu Halil, Zarifo?lu Mehmet, Aysal Fikret, Dö?o?lu Nilgün, Bilguvar Kaya, Günel Murat, Keskin Özlem, Akgün Tahsin, Özçelik Hilmi, Landers John E, Brown Robert H, Ba?ak A Naz |
Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing. Neurobiology of aging 2015 Sep . Kim Hee-Jung, Oh Ki-Wook, Kwon Min-Jung, Oh Seong-Il, Park Jin-Seok, Kim Young-Eun, Choi Byung-Ok, Lee Seungbok, Ki Chang-Seok, Kim Seung Hy |
TBK1 is associated with ALS and ALS-FTD in Sardinian patients. Neurobiology of aging 2016 Apr . Borghero Giuseppe, Pugliatti Maura, Marrosu Francesco, Marrosu Maria Giovanna, Murru Maria Rita, Floris Gianluca, Cannas Antonino, Occhineri Patrizia, Cau Tea B, Loi Daniela, Ticca Anna, Traccis Sebastiano, Manera Umberto, Canosa Antonio, Moglia Cristina, Calvo Andrea, Barberis Marco, Brunetti Maura, Gibbs J Raphael, Renton Alan E, Errichiello Edoardo, Zoledziewska Magdalena, Mulas Antonella, Qian Yong, Din Jun, Pliner Hannah A, Traynor Bryan J, Chiò Adriano, |
Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations. Journal of Alzheimer's disease : JAD 2016 May . Luis Elkin, Ortiz Alexandra, Eudave Luis, Ortega-Cubero Sara, Borroni Barbara, van der Zee Julie, Gazzina Stefano, Caroppo Paola, Rubino Elisa, D'Agata Federico, Le Ber Isabelle, Santana Isabel, Cunha Gil, Almeida Maria R, Boutoleau-Bretonnière Claire, Hannequin Didier, Wallon David, Rainero Innocenzo, Galimberti Daniela, Van Broeckhoven Christine, Pastor Maria A, Pastor P |
Mutation Screening of the CHCHD10 Gene in Chinese Patients with Amyotrophic Lateral Sclerosis. Molecular neurobiology 2016 Apr . Zhou QingQing, Chen YongPing, Wei QianQian, Cao Bei, Wu Ying, Zhao Bi, Ou RuWei, Yang Jing, Chen XuePing, Hadano Shinji, Shang Hui-Fa |
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 |
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 |
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 |
Noncoding repeat expansions for ALS in Japan are associated with the ATXN8OS gene. Neurology. Genetics 2018 8 4 (4): e252. Hirano Makito, Samukawa Makoto, Isono Chiharu, Saigoh Kazumasa, Nakamura Yusaku, Kusunoki Susu |
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 |
Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort. Frontiers in genetics 2019 10 732. Tripolszki Kornélia, Gampawar Piyush, Schmidt Helena, Nagy Zsófia F, Nagy Dóra, Klivényi Péter, Engelhardt József I, Széll Már |
C9ORF72 hexanucleotide repeat expansion frequency in patients with Paget's disease of bone. Neurobiology of aging 2019 Aug . Rubino Elisa, Di Stefano Marco, Galimberti Daniela, Serpente Maria, Scarpini Elio, Fenoglio Chiara, Bo Mario, Rainero Innocen |
Unique characteristics of the genetics epidemiology of amyotrophic lateral sclerosis in China. Science China. Life sciences 2019 3 62 (4): 517-525. Wei Qianqian, Chen Xueping, Chen Yongping, Ou Ruwei, Cao Bei, Hou Yanbing, Zhang Lingyu, Shang Hui-Fa |
TBK1 variants in Chinese patients with amyotrophic lateral sclerosis. Neurobiology of aging 2020 9 97 149.e9-149.e15. Liu Xiaolu, He Ji, Chen Lu, Zhang Nan, Tang Lu, Liu Xiangyi, Ma Yan, Fan Dongshe |
Association of a structural variant within the SQSTM1 gene with amyotrophic lateral sclerosis. Neurology. Genetics 2020 3 6 (2): e406. Pytte Julia, Anderton Ryan S, Flynn Loren L, Theunissen Frances, Jiang Leanne, Pitout Ianthe, James Ian, Mastaglia Frank L, Saunders Ann M, Bedlack Richard, Siddique Teepu, Siddique Nailah, Akkari P Antho |
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 |
A mutation in p62 protein (p. R321C), associated to Paget's disease of bone, causes a blockade of autophagy and an activation of NF-kB pathway. Bone 2020 2 133 115265. Usategui-Martín Ricardo, Gestoso-Uzal Nerea, Calero-Paniagua Ismael, De Pereda José María, Del Pino-Montes Javier, González-Sarmiento Rogel |
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, |
Behavioral and Cognitive Phenotypes of Patients With Amyotrophic Lateral Sclerosis Carrying SOD1 Variants. Neurology 2022 8 99 (18): e2052-62. Bella Eleonora Dalla, Bersano Enrica, Bruzzone Maria Grazia, Gellera Cinzia, Pensato Viviana, Lauria Giuseppe, Consonni Moni |
Clinical Characteristics and Pathogenic Gene Identification in Chinese Patients With Paget's Disease of Bone. Frontiers in endocrinology 2022 3 13 850462. Tao Xiaohui, Liu Li, Yang Xingguang, Wei Zhe, Chen Zhongzhong, Zhang Ge, Zhang Zhenlin, Yue H |
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans. Neurology. Genetics 2023 6 9 (4): e200077. Nomakhosazana R Monnakgotla, Amokelani C Mahungu, Jeannine M Heckmann, Gerrit Botha, Nicola J Mulder, Gang Wu, Evadnie Rampersaud, Jason Myers, Marka Van Blitterswijk, Rosa Rademakers, J Paul Taylor, Joanne Wuu, Michael Benatar, Melissa N |
Risk factors of amyotrophic lateral sclerosis: a global meta-summary. Frontiers in neuroscience 2023 5 17 1177431. Qing-Qing Duan, Zheng Jiang, Wei-Ming Su, Xiao-Jing Gu, Han Wang, Yang-Fan Cheng, Bei Cao, Xia Gao, Yi Wang, Yong-Ping Ch |
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- Page last updated:Apr 29, 2024
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