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Transcript Variants of Genes Involved in Neurodegeneration Are Differentially Regulated by the APOE and MAPT Haplotypes. Genes 2021 Mar 12 (3): . Koks Sulev, Pfaff Abigail L, Bubb Vivien J, Quinn John |
MAPT haplotype-stratified GWAS reveals differential association for AD risk variants. Alzheimer's & dementia : the journal of the Alzheimer's Association 2020 May . Strickland Samantha L, Reddy Joseph S, Allen Mariet, N'songo Aurelie, Burgess Jeremy D, Corda Morgane M, Ballard Travis, Wang Xue, Carrasquillo Minerva M, Biernacka Joanna M, Jenkins Gregory D, Mukherjee Shubhabrata, Boehme Kevin, Crane Paul, Kauwe John S, Ertekin-Taner Nilüfer, |
Screening of dementia genes by whole-exome sequencing in Spanish patients with early-onset dementia: likely pathogenic, uncertain significance and risk variants. Neurobiology of aging 2020 Feb . Ramos-Campoy Oscar, Antonell Anna, Falgàs Neus, Balasa Mircea, Borrego-Écija Sergi, Rodríguez-Santiago Benjamín, Datta Debayan, Armengol Lluís, Fernández-Villullas Guadalupe, Bosch Beatriz, Olives Jaume, Muñoz-García Cristina, Castellví Magdalena, Tort-Merino Adrià, Sánchez-Valle Raquel, Lladó Albe |
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 |
A Specific Diplotype H1j/H2 of the MAPT Gene Could Be Responsible for Parkinson's Disease with Dementia. Case reports in genetics 2020 2020 8813344. Smaili Imane, Hajjaj Imane, Razine Rachid, Tibar Houyam, Salmi Ayyoub, Bouslam Naima, Moussa Ahmed, Regragui Wafa, Bouhouche Ahm |
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 |
A comprehensive screening of copy number variability in dementia with Lewy bodies. Neurobiology of aging 2019 03 75 223.e1-223.e10. Kun-Rodrigues Celia, Orme Tatiana, Carmona Susana, Hernandez Dena G, Ross Owen A, Eicher John D, Shepherd Claire, Parkkinen Laura, Darwent Lee, Heckman Michael G, Scholz Sonja W, Troncoso Juan C, Pletnikova Olga, Dawson Ted, Rosenthal Liana, Ansorge Olaf, Clarimon Jordi, Lleo Alberto, Morenas-Rodriguez Estrella, Clark Lorraine, Honig Lawrence S, Marder Karen, Lemstra Afina, Rogaeva Ekaterina, St George-Hyslop Peter, Londos Elisabet, Zetterberg Henrik, Barber Imelda, Braae Anne, Brown Kristelle, Morgan Kevin, Troakes Claire, Al-Sarraj Safa, Lashley Tammaryn, Holton Janice, Compta Yaroslau, Van Deerlin Vivianna, Serrano Geidy E, Beach Thomas G, Lesage Suzanne, Galasko Douglas, Masliah Eliezer, Santana Isabel, Pastor Pau, Diez-Fairen Monica, Aguilar Miquel, 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 M, Hardy John, Trojanowski John Q, Dickson Dennis W, Singleton Andrew, Stone David J, Guerreiro Rita, Bras Jo |
The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.
![]() Movement disorders : official journal of the Movement Disorder Society 2019 12 34 (12): 1851-1863. Bandres-Ciga Sara, Ahmed Sarah, Sabir Marya S, Blauwendraat Cornelis, Adarmes-Gómez Astrid D, Bernal-Bernal Inmaculada, Bonilla-Toribio Marta, Buiza-Rueda Dolores, Carrillo Fátima, Carrión-Claro Mario, Gómez-Garre Pilar, Jesús Silvia, Labrador-Espinosa Miguel A, Macias Daniel, Méndez-Del-Barrio Carlota, Periñán-Tocino Teresa, Tejera-Parrado Cristina, Vargas-González Laura, Diez-Fairen Monica, Alvarez Ignacio, Tartari Juan Pablo, Buongiorno Mariateresa, Aguilar Miquel, Gorostidi Ana, Bergareche Jesús Alberto, Mondragon Elisabet, Vinagre-Aragon Ana, Croitoru Ioana, Ruiz-Martínez Javier, Dols-Icardo Oriol, Kulisevsky Jaime, Marín-Lahoz Juan, Pagonabarraga Javier, Pascual-Sedano Berta, Ezquerra Mario, Cámara Ana, Compta Yaroslau, Fernández Manel, Fernández-Santiago Rubén, Muñoz Esteban, Tolosa Eduard, Valldeoriola Francesc, Gonzalez-Aramburu Isabel, Sanchez Rodriguez Antonio, Sierra María, Menéndez-González Manuel, Blazquez Marta, Garcia Ciara, Suarez-San Martin Esther, García-Ruiz Pedro, Martínez-Castrillo Juan Carlos, Vela-Desojo Lydia, Ruz Clara, Barrero Francisco Javier, Escamilla-Sevilla Francisco, Mínguez-Castellanos Adolfo, Cerdan Debora, Tabernero Cesar, Gomez Heredia Maria Jose, Perez Errazquin Francisco, Romero-Acebal Manolo, Feliz Cici, Lopez-Sendon Jose Luis, Mata Marina, Martínez Torres Irene, Kim Jonggeol Jeffrey, Dalgard Clifton L, , Brooks Janet, Saez-Atienzar Sara, Gibbs J Raphael, Jorda Rafael, Botia Juan A, Bonet-Ponce Luis, Morrison Karen E, Clarke Carl, Tan Manuela, Morris Huw, Edsall Connor, Hernandez Dena, Simon-Sanchez Javier, Nalls Mike A, Scholz Sonja W, Jimenez-Escrig Adriano, Duarte Jacinto, Vives Francisco, Duran Raquel, Hoenicka Janet, Alvarez Victoria, Infante Jon, Marti Maria José, Clarimón Jordi, López de Munain Adolfo, Pastor Pau, Mir Pablo, Singleton Andrew, |
Frontotemporal lobar degeneration: Study of a clinicopathological cohort. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2018 Dec 58 172-180. Gil María José, Manzano María Sagrario, Cuadrado María Luz, Fernández Cristina, Góméz Elena, Matesanz Carmen, Calero Miguel, Rábano Alber |
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, |
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 |
Regional Overlap of Pathologies in Lewy Body Disorders. Journal of neuropathology and experimental neurology 2017 Mar 76 (3): 216-224. Colom-Cadena Martí, Grau-Rivera Oriol, Planellas Lluís, Cerquera Catalina, Morenas Estrella, Helgueta Sergio, Muñoz Laia, Kulisevsky Jaime, Martí Maria Jose, Tolosa Eduard, Clarimon Jordi, Lleó Alberto, Gelpi Ell |
Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases. Journal of neurology, neurosurgery, and psychiatry 2017 02 88 (2): 152-164. Ferrari Raffaele, Wang Yunpeng, Vandrovcova Jana, Guelfi Sebastian, Witeolar Aree, Karch Celeste M, Schork Andrew J, Fan Chun C, Brewer James B, , , , Momeni Parastoo, Schellenberg Gerard D, Dillon William P, Sugrue Leo P, Hess Christopher P, Yokoyama Jennifer S, Bonham Luke W, Rabinovici Gil D, Miller Bruce L, Andreassen Ole A, Dale Anders M, Hardy John, Desikan Rahul |
Interaction with the MAPT H1H1 Genotype Increases Dementia Risk in APOE e4 Carriers in a Population of Southern India. Dementia and geriatric cognitive disorders 2016 Oct 42 (5-6): 255-264. Jairani P S, Aswathy P M, Gopala Srinivas, Verghese Joe, Mathuranath P |
MAPT haplotype H1G is associated with increased risk of dementia with Lewy bodies. Alzheimer's & dementia : the journal of the Alzheimer's Association 2016 Jun . Labbé Catherine, Heckman Michael G, Lorenzo-Betancor Oswaldo, Soto-Ortolaza Alexandra I, Walton Ronald L, Murray Melissa E, Allen Mariet, Uitti Ryan J, Wszolek Zbigniew K, Smith Glenn E, Kantarci Kejal, Knopman David S, Lowe Val J, Jack Clifford R, Ertekin-Taner Nilüfer, Hassan Anhar, Savica Rodolfo, Petersen Ronald C, Parisi Joseph E, Maraganore Demetrius M, Graff-Radford Neill R, Ferman Tanis J, Boeve Bradley F, Dickson Dennis W, Ross Owen |
MAPT haplotype diversity in multiple system atrophy. Parkinsonism & related disorders 2016 09 30 40-5. Labbé Catherine, Heckman Michael G, Lorenzo-Betancor Oswaldo, Murray Melissa E, Ogaki Kotaro, Soto-Ortolaza Alexandra I, Walton Ronald L, Fujioka Shinsuke, Koga Shunsuke, Uitti Ryan J, van Gerpen Jay A, Petersen Ronald C, Graff-Radford Neill R, Younkin Steven G, Boeve Bradley F, Cheshire William P, Low Phillip A, Sandroni Paola, Coon Elizabeth A, Singer Wolfgang, Wszolek Zbigniew K, Dickson Dennis W, Ross Owen |
The Role of MAPT Haplotype H2 and Isoform 1N/4R in Parkinsonism of Older Adults. PloS one 2016 11 (7): e0157452. Valenca Guilherme T, Srivastava Gyan P, Oliveira-Filho Jamary, White Charles C, Yu Lei, Schneider Julie A, Buchman Aron S, Shulman Joshua M, Bennett David A, De Jager Philip |
Genome-wide Meta-analysis on the Sense of Smell Among US Older Adults.
![]() Medicine 2015 Nov 94 (47): e1892. Dong Jing, Yang Jingyun, Tranah Greg, Franceschini Nora, Parimi Neeta, Alkorta-Aranburu Gorka, Xu Zongli, Alonso Alvaro, Cummings Steven R, Fornage Myriam, Huang Xuemei, Kritchevsky Stephen, Liu Yongmei, London Stephanie, Niu Liang, Wilson Robert S, De Jager Philip L, Yu Lei, Singleton Andrew B, Harris Tamara, Mosley Thomas H, Pinto Jayant M, Bennett David A, Chen Hongl |
Pain and temperature processing in dementia: a clinical and neuroanatomical analysis. Brain : a journal of neurology 2015 Oct . Fletcher Phillip D, Downey Laura E, Golden Hannah L, Clark Camilla N, Slattery Catherine F, Paterson Ross W, Rohrer Jonathan D, Schott Jonathan M, Rossor Martin N, Warren Jason |
Rare variants in ß-Amyloid precursor protein (APP) and Parkinson's disease. European journal of human genetics : EJHG 2015 Oct 23 (10): 1328-33. Schulte Eva C, Fukumori Akio, Mollenhauer Brit, Hor Hyun, Arzberger Thomas, Perneczky Robert, Kurz Alexander, Diehl-Schmid Janine, Hüll Michael, Lichtner Peter, Eckstein Gertrud, Zimprich Alexander, Haubenberger Dietrich, Pirker Walter, Brücke Thomas, Bereznai Benjamin, Molnar Maria J, Lorenzo-Betancor Oswaldo, Pastor Pau, Peters Annette, Gieger Christian, Estivill Xavier, Meitinger Thomas, Kretzschmar Hans A, Trenkwalder Claudia, Haass Christian, Winkelmann Julia |
MAPT rs242562 and GSK3B rs334558 are associated with Parkinson's Disease in central China. BMC neuroscience 2014 15 (1): 54. Yu Lan, Huang Jinsha, Zhai Desheng, Liu Ling, Guo Kexin, Long Xi, Xiong Jing, Zhang Zhentao, Wang Youpei, Zhao Ying, Wu Ping, Wang Dingan, Lin Zhicheng, Wu Jing, Xiong Nian, Wang T |
Confluence of a-synuclein, tau, and ß-amyloid pathologies in dementia with Lewy bodies. Journal of neuropathology and experimental neurology 2013 Dec 72 (12): 1203-12. Colom-Cadena Martí, Gelpi Ellen, Charif Sara, Belbin Olivia, Blesa Rafael, Martí Maria J, Clarimón Jordi, Lleó Alber |
C9ORF72 repeat expansions in cases with previously identified pathogenic mutations. Neurology 2013 Oct 81 (15): 1332-41. van Blitterswijk Marka, Baker Matthew C, DeJesus-Hernandez Mariely, Ghidoni Roberta, Benussi Luisa, Finger Elizabeth, Hsiung Ging-Yuek R, Kelley Brendan J, Murray Melissa E, Rutherford Nicola J, Brown Patricia E, Ravenscroft Thomas, Mullen Bianca, Ash Peter E A, Bieniek Kevin F, Hatanpaa Kimmo J, Karydas Anna, Wood Elisabeth McCarty, Coppola Giovanni, Bigio Eileen H, Lippa Carol, Strong Michael J, Beach Thomas G, Knopman David S, Huey Edward D, Mesulam Marsel, Bird Thomas, White Charles L, Kertesz Andrew, Geschwind Dan H, Van Deerlin Vivianna M, Petersen Ronald C, Binetti Giuliano, Miller Bruce L, Petrucelli Leonard, Wszolek Zbigniew K, Boylan Kevin B, Graff-Radford Neill R, Mackenzie Ian R, Boeve Bradley F, Dickson Dennis W, Rademakers Ro |
MAPT gene rs1052553 variant is not associated with the risk for multiple sclerosis. Human immunology 2013 Jul . Agúndez JA, García-Martín E, Martínez C, Benito-León J, Millán-Pascual J, Calleja P, Díaz-Sánchez M, Pisa D, Turpín-Fenoll L, Alonso-Navarro H, Ayuso-Peralta L, Torrecillas D, Plaza-Nieto JF, Jiménez-Jiménez FJ |
An exploratory study on STX6, MOBP, MAPT, and EIF2AK3 and late-onset Alzheimer's disease. Neurobiology of aging 2013 May 34 (5): 1519.e13-7. Liu Qiu-Yan, Yu Jin-Tai, Miao Dan, Ma Xiao-Ying, Wang Hui-Fu, Wang Wei, Tan L |
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 |
Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. Human molecular genetics 2012 Aug 21 (15): 3500-12. Coppola Giovanni, Chinnathambi Subashchandrabose, Lee Jason JiYong, Dombroski Beth A, Baker Matt C, Soto-Ortolaza Alexandra I, Lee Suzee E, Klein Eric, Huang Alden Y, Sears Renee, Lane Jessica R, Karydas Anna M, Kenet Robert O, Biernat Jacek, Wang Li-San, Cotman Carl W, Decarli Charles S, Levey Allan I, Ringman John M, Mendez Mario F, Chui Helena C, Le Ber Isabelle, Brice Alexis, Lupton Michelle K, Preza Elisavet, Lovestone Simon, Powell John, Graff-Radford Neill, Petersen Ronald C, Boeve Bradley F, Lippa Carol F, Bigio Eileen H, Mackenzie Ian, Finger Elizabeth, Kertesz Andrew, Caselli Richard J, Gearing Marla, Juncos Jorge L, Ghetti Bernardino, Spina Salvatore, Bordelon Yvette M, Tourtellotte Wallace W, Frosch Matthew P, Vonsattel Jean Paul G, Zarow Chris, Beach Thomas G, Albin Roger L, Lieberman Andrew P, Lee Virginia M, Trojanowski John Q, Van Deerlin Vivianna M, Bird Thomas D, Galasko Douglas R, Masliah Eliezer, White Charles L, Troncoso Juan C, Hannequin Didier, Boxer Adam L, Geschwind Michael D, Kumar Satish, Mandelkow Eva-Maria, Wszolek Zbigniew K, Uitti Ryan J, Dickson Dennis W, Haines Jonathan L, Mayeux Richard, Pericak-Vance Margaret A, Farrer Lindsay A, , Ross Owen A, Rademakers Rosa, Schellenberg Gerard D, Miller Bruce L, Mandelkow Eckhard, Geschwind Daniel |
H1-MAPT and the risk for familial essential tremor. PloS one 2012 7 (7): e41581. García-Martín Elena, Martínez Carmen, Alonso-Navarro Hortensia, Benito-León Julián, Lorenzo-Betancor Oswaldo, Pastor Pau, López-Alburquerque Tomás, Samaranch Lluis, Lorenzo Elena, Agúndez José A G, Jiménez-Jiménez Félix Javi |
Different MAPT haplotypes are associated with Parkinson's disease and progressive supranuclear palsy. Neurobiology of aging 2011 Mar 32 (3): 547.e11-6. Ezquerra Mario, Pastor Pau, Gaig Carles, Vidal-Taboada Jose M, Cruchaga Carlos, Muñoz Esteban, Martí Maria-Jose, Valldeoriola Francesc, Aguilar Miquel, Calopa Matilde, Hernandez-Vara Jorge, Tolosa Eduar |
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- Page last updated:May 20, 2022
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