Human Genome Epidemiology Literature Finder
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Records 1 - 26 (of 26 Records) |
| Query Trace: Amyotrophic Lateral Sclerosis and MAPT[original query] |
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| Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia. Human molecular genetics 2007 Feb 16 (3): 295-306. Sundar PD, Yu CE, Sieh W, Steinbart E, Garruto RM, Oyanagi K, Craig UK, Bird TD, Wijsman EM, Galasko DR, Schellenberg GD |
| Investigation of c9orf72 in 4 neurodegenerative disorders. Archives of neurology 2012 Dec 69 (12): 1583-90. Xi Zhengrui, Zinman Lorne, Grinberg Yakov, Moreno Danielle, Sato Christine, Bilbao Juan M, Ghani Mahdi, Hernández Isabel, Ruiz Agustín, Boada Mercè, Morón Francisco J, Lang Anthony E, Marras Connie, Bruni Amalia, Colao Rosanna, Maletta Raffaele G, Puccio Gianfranco, Rainero Innocenzo, Pinessi Lorenzo, Galimberti Daniela, Morrison Karen E, Moorby Catriona, Stockton Joanne D, Masellis Mario, Black Sandra E, Hazrati Lili-Naz, Liang Yan, van Haersma de With Jan, Fornazzari Luis, Villagra Roque, Rojas-Garcia Ricardo, Clarimón Jordi, Mayeux Richard, Robertson Janice, St George-Hyslop Peter, Rogaeva Ekateri |
| C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing. Journal of Alzheimer's disease : JAD 2012 Dec . Le Ber I, Camuzat A, Guillot-Noel L, Hannequin D, Lacomblez L, Golfier V, Puel M, Martinaud O, Deramecourt V, Rivaud-Pechoux S, Millecamps S, Vercelletto M, Couratier P, Sellal F, Pasquier F, Salachas F, Thomas-Antérion C, Didic M, Pariente J, Seilhean D, Ruberg M, Wargon I, Blanc F, Camu W, Michel BF, Berger E, Sauvée M, Thauvin-Robinet C, Mondon K, Tournier-Lasserve E, Goizet C, Fleury M, Viennet G, Verpillat P, Meininger V, Duyckaerts C, Dubois B, Brice A |
| Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort. JAMA neurology 2013 Mar 70 (3): 365-73. Van Langenhove Tim, van der Zee Julie, Gijselinck Ilse, Engelborghs Sebastiaan, Vandenberghe Rik, Vandenbulcke Mathieu, De Bleecker Jan, Sieben Anne, Versijpt Jan, Ivanoiu Adrian, Deryck Olivier, Willems Christiana, Dillen Lubina, Philtjens Stéphanie, Maes Githa, Bäumer Veerle, Van Den Broeck Marleen, Mattheijssens Maria, Peeters Karin, Martin Jean-Jacques, Michotte Alex, Santens Patrick, De Jonghe Peter, Cras Patrick, De Deyn Peter P, Cruts Marc, Van Broeckhoven Christi |
| MAPT as a predisposing gene for sporadic amyotrophic lateral sclerosis in the Chinese Han population. Neural regeneration research 2013 Nov 8 (33): 3116-23. Fang Pu, Xu Wenyuan, Wu Chengsi, Zhu Min, Li Xiaobing, Hong Daoj |
| Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia. Neurobiology of aging 2014 May 35 (5): 1213.e13-7. Kim Eun-Joo, Kwon Jay C, Park Kee Hyung, Park Kyung-Won, Lee Jae-Hong, Choi Seong Hye, Jeong Jee H, Kim Byeong C, Yoon Soo Jin, Yoon Young Chul, Kim Sangyun, Park Key-Chung, Choi Byung-Ok, Na Duk L, Ki Chang-Seok, Kim Seung Hy |
| 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 |
| Sex differences in the prevalence of genetic mutations in FTD and ALS: A meta-analysis. Neurology 2017 9 89 (15): 1633-1642. Curtis Ashley F, Masellis Mario, Hsiung Ging-Yuek Robin, Moineddin Rahim, Zhang Kathy, Au Bonnie, Millett Geneva, Mackenzie Ian, Rogaeva Ekaterina, Tierney Mary |
| Meta-analysis of the association between variants in MAPT and neurodegenerative diseases. Oncotarget 2017 Mar . Zhang Cheng-Cheng, Zhu Jun-Xia, Wan Yu, Tan Lin, Wang Hui-Fu, Yu Jin-Tai, Tan L |
| Three VCP Mutations in Patients with Frontotemporal Dementia. Journal of Alzheimer's disease : JAD 2018 8 65 (4): 1139-1146. Wong Tsz Hang, Pottier Cyril, Hondius David C, Meeter Lieke H H, van Rooij Jeroen G J, Melhem Shami, , van Minkelen Rick, van Duijn Cornelia M, Rozemuller Annemieke J M, Seelaar Harro, Rademakers Rosa, van Swieten John |
Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases.
Molecular neurodegeneration 2018 Aug 13 (1): 41. Chen Jason A, Chen Zhongbo, Won Hyejung, Huang Alden Y, Lowe Jennifer K, Wojta Kevin, Yokoyama Jennifer S, Bensimon Gilbert, Leigh P Nigel, Payan Christine, Shatunov Aleksey, Jones Ashley R, Lewis Cathryn M, Deloukas Panagiotis, Amouyel Philippe, Tzourio Christophe, Dartigues Jean-Francois, Ludolph Albert, Boxer Adam L, Bronstein Jeff M, Al-Chalabi Ammar, Geschwind Daniel H, Coppola Giovan |
| Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum. JAMA neurology 2018 Jul 75 (7): 860-875. Karch Celeste M, Wen Natalie, Fan Chun C, Yokoyama Jennifer S, Kouri Naomi, Ross Owen A, Höglinger Gunter, Müller Ulrich, Ferrari Raffaele, Hardy John, Schellenberg Gerard D, Sleiman Patrick M, Momeni Parastoo, Hess Christopher P, Miller Bruce L, Sharma Manu, Van Deerlin Vivianna, Smeland Olav B, Andreassen Ole A, Dale Anders M, Desikan Rahul S, |
| Frontotemporal dementia spectrum: first genetic screen in a Greek cohort. Neurobiology of aging 2018 12 75 224.e1-224.e8. Ramos Eliana Marisa, Koros Christos, Dokuru Deepika Reddy, Van Berlo Victoria, Kroupis Christos, Wojta Kevin, Wang Qing, Andronas Nikolaos, Matsi Stavroula, Beratis Ion N, Huang Alden Y, Lee Suzee E, Bonakis Anastasios, Florou-Hatziyiannidou Chryseis, Fragkiadaki Stella, Kontaxopoulou Dionysia, Agiomyrgiannakis Dimitrios, Kamtsadeli Vasiliki, Tsinia Niki, Papastefanopoulou Vasiliki, Stamelou Maria, Miller Bruce L, Stefanis Leonidas, Papatriantafyllou John D, Papageorgiou Sokratis G, Coppola Giovan |
| Genetic Variation in the Ontario Neurodegenerative Disease Research Initiative. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2019 6 46 (5): 491-498. Dilliott Allison A, Evans Emily C, Farhan Sali M K, Ghani Mahdi, Sato Christine, Zhang Ming, McIntyre Adam D, Cao Henian, Racacho Lemuel, Robinson John F, Strong Michael J, Masellis Mario, Bulman Dennis E, Rogaeva Ekaterina, Black Sandra E, Finger Elizabeth, Frank Andrew, Freedman Morris, Hassan Ayman, Lang Anthony, Shoesmith Christen L, Swartz Richard H, Tang-Wai David, Tartaglia Maria Carmela, Turnbull John, Zinman Lorne, , Hegele Robert |
| Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease. International journal of molecular sciences 2019 Mar 20 (6): . Giau Vo Van, Senanarong Vorapun, Bagyinszky Eva, An Seong Soo A, Kim SangY |
| Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. Neuro-degenerative diseases 2019 Mar 18 (5-6): 310-314. Origone Paola, Geroldi Alessandro, Lamp Merit, Sanguineri Francesca, Caponnetto Claudia, Cabona Corrado, Gotta Fabio, Trevisan Lucia, Bellone Emilia, Manganelli Fiore, Devigili Grazia, Mandich Pao |
| 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 |
| Sporadic Creutzfeldt-Jakob Disease and Other Proteinopathies in Comorbidity. Frontiers in neurology 2020 12 11 596108. Parobkova Eva, van der Zee Julie, Dillen Lubina, Van Broeckhoven Christine, Rusina Robert, Matej Radosl |
| Genetics of frontotemporal dementia in China. Amyotrophic lateral sclerosis & frontotemporal degeneration 2021 2 22 (5-6): 321-335. Jiang Yaling, Jiao Bin, Xiao Xuewen, Shen |
| Differences in Motor Features of C9orf72, MAPT, or GRN Variant Carriers With Familial Frontotemporal Lobar Degeneration. Neurology 2022 7 99 (11): e1154-e1167. Tipton Philip Wade, Deutschlaender Angela B, Savica Rodolfo, Heckman Michael G, Brushaber Danielle E, Dickerson Bradford C, Gavrilova Ralitza H, Geschwind Daniel H, Ghoshal Nupur, Graff-Radford Jonathan, Graff-Radford Neill R, Grossman Murray, Hsiung Ging-Yuek R, Huey Edward D, Irwin David John, Jones David T, Knopman David S, McGinnis Scott M, Rademakers Rosa, Ramos Eliana Marisa, Forsberg Leah K, Heuer Hilary W, Onyike Chiadi, Tartaglia Carmela, Domoto-Reilly Kimiko, Roberson Erik D, Mendez Mario F, Litvan Irene, Appleby Brian S, Grant Ian, Kaufer Daniel, Boxer Adam L, Rosen Howard J, Boeve Brad F, Wszolek Zbigniew K, |
| Exome Sequencing of a Portuguese Cohort of Frontotemporal Dementia Patients: Looking Into the ALS-FTD Continuum. Frontiers in neurology 2022 13 886379. Tábuas-Pereira Miguel, Santana Isabel, Gibbons Elizabeth, Paquette Kimberly, Almeida Maria Rosário, Baldeiras Inês, Bras Jose, Guerreiro Ri |
| Examining empathy deficits across familial forms of frontotemporal dementia within the GENFI cohort. Cortex; a journal devoted to the study of the nervous system and behavior 2022 3 150 12-28. Foster Phoebe H, Russell Lucy L, Peakman Georgia, Convery Rhian S, Bouzigues Arabella, Greaves Caroline V, Bocchetta Martina, Cash David M, van Swieten John C, Jiskoot Lize C, Moreno Fermin, Sanchez-Valle Raquel, Laforce Robert, Graff Caroline, Masellis Mario, Tartaglia Carmela, Rowe James B, Borroni Barbara, Finger Elizabeth, Synofzik Matthis, Galimberti Daniela, Vandenberghe Rik, de Mendonça Alexandre, Butler Chris R, Gerhard Alex, Ducharme Simon, Le Ber Isabelle, Tagliavini Fabrizio, Santana Isabel, Pasquier Florence, Levin Johannes, Danek Adrian, Otto Markus, Sorbi Sandro, Rohrer Jonathan D, |
| Genetic Screening in Korean Patients with Frontotemporal Dementia Syndrome. Journal of Alzheimer's disease reports 2022 11 6 (1): 651-662. Kim Eun-Joo, Na Duk L, Kim Hee-Jin, Park Kyung Won, Lee Jae-Hong, Roh Jee Hoon, Kwon Jay C, Yoon Soo Jin, Jung Na-Yeon, Jeong Jee Hyang, Jang Jae-Won, Kim Hee-Jin, Park Kee Hyung, Choi Seong Hye, Kim SangYun, Park Young Ho, Kim Byeong C, Youn Young Chul, Ki Chang-Seok, Kim Seung Hyun, Seo Sang Won, Kim Young-E |
| Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias. Cell genomics 2023 6 3 (6): 100316. Karri Kaivola, Ruth Chia, Jinhui Ding, Memoona Rasheed, Masashi Fujita, Vilas Menon, Ronald L Walton, Ryan L Collins, Kimberley Billingsley, Harrison Brand, Michael Talkowski, Xuefang Zhao, Ramita Dewan, Ali Stark, Anindita Ray, Sultana Solaiman, Pilar Alvarez Jerez, Laksh Malik, Ted M Dawson, Liana S Rosenthal, Marilyn S Albert, Olga Pletnikova, Juan C Troncoso, Mario Masellis, Julia Keith, Sandra E Black, Luigi Ferrucci, Susan M Resnick, Toshiko Tanaka, , , , , Eric Topol, Ali Torkamani, Pentti Tienari, Tatiana M Foroud, Bernardino Ghetti, John E Landers, Mina Ryten, Huw R Morris, John A Hardy, Letizia Mazzini, Sandra D'Alfonso, Cristina Moglia, Andrea Calvo, Geidy E Serrano, Thomas G Beach, Tanis Ferman, Neill R Graff-Radford, Bradley F Boeve, Zbigniew K Wszolek, Dennis W Dickson, Adriano Chiò, David A Bennett, Philip L De Jager, Owen A Ross, Clifton L Dalgard, J Raphael Gibbs, Bryan J Traynor, Sonja W Scho |
| Navigating the ALS Genetic Labyrinth: The Role of MAPT Haplotypes. Genes 2023 11 14 (11): . Ivan Tourtourikov, Kristiyan Dabchev, Tihomir Todorov, Teodor Angelov, Teodora Chamova, Ivailo Tournev, Tanya Kadiyska, Vanyo Mitev, Albena Todoro |
| Impact of APOE and MAPT genetic profile on the cognitive functions among Amyotrophic Lateral Sclerosis Tunisian patients. Journal of neural transmission (Vienna, Austria : 1996) 2025 1 . Ikram Sghaier, Imen Kacem, Antonia Ratti, Khouloud Takout, Youssef Abida, Silvia Peverelli, Nicola Ticozzi, Amina Gargouri-Berrachid, Vincenzo Silani, Riadh Gouid |
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