HuGE Literature Finder
Records 1-24
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Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies.
Acta neuropathologica communications 2020 Jan 8 (1): 5. Orme Tatiana, Hernandez Dena, Ross Owen A, Kun-Rodrigues Celia, Darwent Lee, Shepherd Claire E, Parkkinen Laura, Ansorge Olaf, Clark Lorraine, Honig Lawrence S, Marder Karen, Lemstra Afina, Rogaeva Ekaterina, St George-Hyslop Peter, Londos Elisabet, Zetterberg Henrik, Morgan Kevin, Troakes Claire, Al-Sarraj Safa, Lashley Tammaryn, Holton Janice, Compta Yaroslau, Van Deerlin Vivianna, Trojanowski John Q, Serrano Geidy E, Beach Thomas G, Lesage Suzanne, Galasko Douglas, Masliah Eliezer, Santana Isabel, Pastor Pau, Tienari Pentti J, Myllykangas Liisa, Oinas Minna, Revesz Tamas, Lees Andrew, Boeve Brad F, Petersen Ronald C, Ferman Tanis J, Escott-Price Valentina, Graff-Radford Neill, Cairns Nigel J, Morris John C, Pickering-Brown Stuart, Mann David, Halliday Glenda, Stone David J, Dickson Dennis W, Hardy John, Singleton Andrew, Guerreiro Rita, Bras Jo |
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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 |
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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 |
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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 |
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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 |
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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, |
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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 |
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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 |
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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 |
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Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study.
Neurobiology of aging 2015 May 36 (5): 2005.e15-22. Cuyvers Elise, van der Zee Julie, Bettens Karolien, Engelborghs Sebastiaan, Vandenbulcke Mathieu, Robberecht Caroline, Dillen Lubina, Merlin Céline, Geerts Nathalie, Graff Caroline, Thonberg Håkan, Chiang Huei-Hsin, Pastor Pau, Ortega-Cubero Sara, Pastor Maria A, Diehl-Schmid Janine, Alexopoulos Panagiotis, Benussi Luisa, Ghidoni Roberta, Binetti Giuliano, Nacmias Benedetta, Sorbi Sandro, Sanchez-Valle Raquel, Lladó Albert, Gelpi Ellen, Almeida Maria Rosário, Santana Isabel, Clarimon Jordi, Lleó Alberto, Fortea Juan, de Mendonça Alexandre, Martins Madalena, Borroni Barbara, Padovani Alessandro, Mat?j Radoslav, Rohan Zdenek, Ruiz Agustín, Frisoni Giovanni B, Fabrizi Gian Maria, Vandenberghe Rik, De Deyn Peter P, Van Broeckhoven Christine, Sleegers Kristel, |
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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 |
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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 |
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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 |
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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 |
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ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation.
Acta neuropathologica communications 2015 3 62. King Andrew, Troakes Claire, Smith Bradley, Nolan Matthew, Curran Olimpia, Vance Caroline, Shaw Christopher E, Al-Sarraj Sa |
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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 |
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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 |
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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 |
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Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB.
European journal of human genetics : EJHG 2014 Apr 22 (4): 492-6. Kwok Chun T, Morris Alex, de Belleroche Jacqueline |
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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 |
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SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.
JAMA neurology 2013 Nov 70 (11): 1403-10. Le Ber Isabelle, Camuzat Agnès, Guerreiro Rita, Bouya-Ahmed Kawtar, Bras Jose, Nicolas Gael, Gabelle Audrey, Didic Mira, De Septenville Anne, Millecamps Stéphanie, Lenglet Timothée, Latouche Morwena, Kabashi Edor, Campion Dominique, Hannequin Didier, Hardy John, Brice Alexis, |
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Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology.
Acta neuropathologica 2013 Apr 125 (4): 511-22. Teyssou Elisa, Takeda Takahiro, Lebon Vincent, Boillée Séverine, Doukouré Brahima, Bataillon Guillaume, Sazdovitch Véronique, Cazeneuve Cécile, Meininger Vincent, LeGuern Eric, Salachas François, Seilhean Danielle, Millecamps Stéphan |
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SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.
Neurology 2012 Oct 79 (15): 1556-62. Rubino Elisa, Rainero Innocenzo, Chiò Adriano, Rogaeva Ekaterina, Galimberti Daniela, Fenoglio Pierpaola, Grinberg Yakov, Isaia Giancarlo, Calvo Andrea, Gentile Salvatore, Bruni Amalia Cecilia, St George-Hyslop Peter Henry, Scarpini Elio, Gallone Salvatore, Pinessi Lorenzo, |
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Associations between multiple system atrophy and polymorphisms of SLC1A4, SQSTM1, and EIF4EBP1 genes.
Movement disorders : official journal of the Movement Disorder Society 2008 Jun 23 (8): 1161-7. Soma Hiroyuki, Yabe Ichiro, Takei Asako, Fujiki Naoto, Yanagihara Tetsuro, Sasaki Hiden |
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- Page last updated:Apr 07, 2020
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