Human Genome Epidemiology Literature Finder
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Records 1 - 28 (of 28 Records) |
| Query Trace: Syndrome and MAPT[original query] |
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| Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative. The Lancet. Neurology 2007 Oct 6 (10): 857-68. Rademakers Rosa, Baker Matt, Gass Jennifer, Adamson Jennifer, Huey Edward D, Momeni Parastoo, Spina Salvatore, Coppola Giovanni, Karydas Anna M, Stewart Heather, Johnson Nancy, Hsiung Ging-Yuek, Kelley Brendan, Kuntz Karen, Steinbart Ellen, Wood Elisabeth McCarty, Yu Chang-En, Josephs Keith, Sorenson Eric, Womack Kyle B, Weintraub Sandra, Pickering-Brown Stuart M, Schofield Peter R, Brooks William S, Van Deerlin Vivianna M, Snowden Julie, Clark Christopher M, Kertesz Andrew, Boylan Kevin, Ghetti Bernardino, Neary David, Schellenberg Gerard D, Beach Thomas G, Mesulam Marsel, Mann David, Grafman Jordan, Mackenzie Ian R, Feldman Howard, Bird Thomas, Petersen Ron, Knopman David, Boeve Bradley, Geschwind Dan H, Miller Bruce, Wszolek Zbigniew, Lippa Carol, Bigio Eileen H, Dickson Dennis, Graff-Radford Neill, Hutton Mi |
| Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy. Movement disorders : official journal of the Movement Disorder Society 2007 Apr 22 (6): 895-7. Williams David R, Pittman Alan M, Revesz Tamas, Lees Andrew J, de Silva Roh |
| Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide. Neurobiology of disease 2009 Mar 33 (3): 379-85. Benussi Luisa, Ghidoni Roberta, Pegoiani Eleonora, Moretti Davide V, Zanetti Orazio, Binetti Giulia |
| The distinct cognitive syndromes of Parkinson's disease: 5 year follow-up of the CamPaIGN cohort. Brain : a journal of neurology 2009 Nov 132 (Pt 11): 2958-69. Williams-Gray Caroline H, Evans Jonathan R, Goris An, Foltynie Thomas, Ban Maria, Robbins Trevor W, Brayne Carol, Kolachana Bhaskar S, Weinberger Daniel R, Sawcer Stephen J, Barker Roger |
| VEGF haplotypes are associated with increased risk to progressive supranuclear palsy and corticobasal syndrome. Journal of Alzheimer's disease : JAD 2010 21 (1): 87-94. Borroni Barbara, Del Bo Roberto, Goldwurm Stefano, Archetti Silvana, Bonvicini Cristian, Agosti Chiara, Bigni Barbara, Papetti Alice, Ghezzi Serena, Sacilotto Giorgio, Pezzoli Gianni, Gennarelli Massimo, Bresolin Nereo, Comi Giacomo Pietro, Padovani Alessand |
| MAPT1 gene rs1052553 variant is unrelated with the risk for restless legs syndrome. Journal of neural transmission (Vienna, Austria : 1996) 2013 Mar 120 (3): 463-7. Roco Angela, Jiménez-Jiménez Félix Javier, Alonso-Navarro Hortensia, Martínez Carmen, Zurdo Martín, Turpín-Fenoll Laura, Millán Jorge, Adeva-Bartolomé Teresa, Cubo Esther, Navacerrada Francisco, Rojo-Sebastián Ana, Rubio Lluisa, Calleja Marisol, Plaza-Nieto José Francisco, Pilo-de-la-Fuente Belén, Arroyo-Solera Margarita, García-Martín Elena, Agúndez José A |
| 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 |
| 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 |
| Microtubule-associated protein tau genetic variations are uncommon cause of frontotemporal dementia in south India. Neurobiology of aging 2014 Feb 35 (2): 443.e23-4. Aswathy P M, Jairani P S, Verghese Joe, Gopala Srinivas, Mathuranath P |
| Genetic impact on cognition and brain function in newly diagnosed Parkinson's disease: ICICLE-PD study. Brain : a journal of neurology 2014 Oct 137 (Pt 10): 2743-58. Nombela Cristina, Rowe James B, Winder-Rhodes Sophie E, Hampshire Adam, Owen Adrian M, Breen David P, Duncan Gordon W, Khoo Tien K, Yarnall Alison J, Firbank Michael J, Chinnery Patrick F, Robbins Trevor W, O'Brien John T, Brooks David J, Burn David J, , Barker Roger |
| Temporal Variant Frontotemporal Dementia is Associated with Globular Glial Tauopathy. Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology 2015 Jun 28 (2): 92-7. Clark Camilla N, Lashley Tammaryn, Mahoney Colin J, Warren Jason D, Revesz Tamas, Rohrer Jonathan |
| Evaluating pathogenic dementia variants in posterior cortical atrophy. Neurobiology of aging 2015 Oct . Carrasquillo Minerva M, Barber Imelda, Lincoln Sarah J, Murray Melissa E, Camsari Gamze Balci, Khan Qurat Ul Ain, Nguyen Thuy, Ma Li, Bisceglio Gina D, Crook Julia E, Younkin Steven G, Dickson Dennis W, Boeve Bradley F, Graff-Radford Neill R, Morgan Kevin, Ertekin-Taner Nilüf |
| Cognition in Parkinson's Disease. International review of neurobiology 2017 8 133 557-583. O'Callaghan Claire, Lewis Simon J |
| Genetic factors influencing frontostriatal dysfunction and the development of dementia in Parkinson's disease. PloS one 2017 12 (4): e0175560. Huertas Ismael, Jesús Silvia, García-Gómez Francisco Javier, Lojo José Antonio, Bernal-Bernal Inmaculada, Bonilla-Toribio Marta, Martín-Rodriguez Juan Francisco, García-Solís David, Gómez-Garre Pilar, Mir Pab |
| Psychiatric symptoms in preclinical behavioural-variant frontotemporal dementia in MAPT mutation carriers. Journal of neurology, neurosurgery, and psychiatry 2018 1 89 (5): 449-455. Cheran Gayathri, Silverman Hannah, Manoochehri Masood, Goldman Jill, Lee Seonjoo, Wu Liwen, Cines Sarah, Fallon Emer, Kelly Brendan Desmond, Olszewska Diana Angelika, Heidebrink Judith, Shair Sarah, Campbell Stephen, Paulson Henry, Lynch Timothy, Cosentino Stephanie, Huey Edward |
| MAPT p.V363I mutation: A rare cause of corticobasal degeneration. Neurology. Genetics 2019 8 5 (4): e347. Ahmed Sarah, Fairen Monica Diez, Sabir Marya S, Pastor Pau, Ding Jinhui, Ispierto Lourdes, Butala Ankur, Morris Christopher M, Schulte Claudia, Gasser Thomas, Jabbari Edwin, Pletnikova Olga, Morris Huw R, Troncoso Juan, Gelpi Ellen, Pantelyat Alexander, Scholz Sonja |
Genome-wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy.
Movement disorders : official journal of the Movement Disorder Society 2019 May . Chen Zhongbo, Chen Jason A, Shatunov Aleksey, Jones Ashley R, Kravitz Stephanie N, Huang Alden Y, Lawrence Lauren, Lowe Jennifer K, Lewis Cathryn M, Payan Christine A M, Lieb Wolfgang, Franke Andre, Deloukas Panagiotis, Amouyel Philippe, Tzourio Christophe, Dartigues Jean-François, , Ludolph Albert, Bensimon Gilbert, Leigh P Nigel, Bronstein Jeff M, Coppola Giovanni, Geschwind Daniel H, Al-Chalabi Amm |
| F-flortaucipir (AV-1451) tau PET in frontotemporal dementia syndromes. Alzheimer's research & therapy 2019 2 11 (1): 13. Tsai Richard M, Bejanin Alexandre, Lesman-Segev Orit, LaJoie Renaud, Visani Adrienne, Bourakova Viktoriya, O'Neil James P, Janabi Mustafa, Baker Suzanne, Lee Suzee E, Perry David C, Bajorek Lynn, Karydas Anna, Spina Salvatore, Grinberg Lea T, Seeley William W, Ramos Eliana M, Coppola Giovanni, Gorno-Tempini Maria Luisa, Miller Bruce L, Rosen Howard J, Jagust William, Boxer Adam L, Rabinovici Gil |
| Diagnosis Across the Spectrum of Progressive Supranuclear Palsy and Corticobasal Syndrome. JAMA neurology 2019 12 77 (3): 377-387. Jabbari Edwin, Holland Negin, Chelban Viorica, Jones P Simon, Lamb Ruth, Rawlinson Charlotte, Guo Tong, Costantini Alyssa A, Tan Manuela M X, Heslegrave Amanda J, Roncaroli Federico, Klein Johannes C, Ansorge Olaf, Allinson Kieren S J, Jaunmuktane Zane, Holton Janice L, Revesz Tamas, Warner Thomas T, Lees Andrew J, Zetterberg Henrik, Russell Lucy L, Bocchetta Martina, Rohrer Jonathan D, Williams Nigel M, Grosset Donald G, Burn David J, Pavese Nicola, Gerhard Alexander, Kobylecki Christopher, Leigh P Nigel, Church Alistair, Hu Michele T M, Woodside John, Houlden Henry, Rowe James B, Morris Huw |
| Genetic screen in a large series of patients with primary progressive aphasia. Alzheimer's & dementia : the journal of the Alzheimer's Association 2019 1 15 (4): 553-560. Ramos Eliana Marisa, Dokuru Deepika Reddy, Van Berlo Victoria, Wojta Kevin, Wang Qing, Huang Alden Y, Miller Zachary A, Karydas Anna M, Bigio Eileen H, Rogalski Emily, Weintraub Sandra, Rader Benjamin, Miller Bruce L, Gorno-Tempini Maria Luisa, Mesulam Marek-Marsel, Coppola Giovan |
| Brain volumetric deficits in MAPT mutation carriers: a multisite study. Annals of clinical and translational neurology 2020 11 8 (1): 95-110. Chu Stephanie A, Flagan Taru M, Staffaroni Adam M, Jiskoot Lize C, Deng Jersey, Spina Salvatore, Zhang Liwen, Sturm Virginia E, Yokoyama Jennifer S, Seeley William W, Papma Janne M, Geschwind Dan H, Rosen Howard J, Boeve Bradley F, Boxer Adam L, Heuer Hilary W, Forsberg Leah K, Brushaber Danielle E, Grossman Murray, Coppola Giovanni, Dickerson Bradford C, Bordelon Yvette M, Faber Kelley, Feldman Howard H, Fields Julie A, Fong Jamie C, Foroud Tatiana, Gavrilova Ralitza H, Ghoshal Nupur, Graff-Radford Neill R, Hsiung Ging-Yuek Robin, Huey Edward D, Irwin David J, Kantarci Kejal, Kaufer Daniel I, Karydas Anna M, Knopman David S, Kornak John, Kramer Joel H, Kukull Walter A, Lapid Maria I, Litvan Irene, Mackenzie Ian R A, Mendez Mario F, Miller Bruce L, Onyike Chiadi U, Pantelyat Alexander Y, Rademakers Rosa, Marisa Ramos Eliana, Roberson Erik D, Carmela Tartaglia Maria, Tatton Nadine A, Toga Arthur W, Vetor Ashley, Weintraub Sandra, Wong Bonnie, Wszolek Zbigniew K, , Van Swieten John C, Lee Suzee |
| Primary Tau Pathology, Not Copathology, Correlates With Clinical Symptoms in PSP and CBD. Journal of neuropathology and experimental neurology 2019 Dec . Robinson John L, Yan Ning, Caswell Carrie, Xie Sharon X, Suh EunRan, Van Deerlin Vivianna M, Gibbons Garrett, Irwin David J, Grossman Murray, Lee Edward B, Lee Virginia M-Y, Miller Bruce, Trojanowski John |
| Fulminant corticobasal degeneration: a distinct variant with predominant neuronal tau aggregates. Acta neuropathologica 2020 1 139 (4): 717-734. Ling Helen, Gelpi Ellen, Davey Karen, Jaunmuktane Zane, Mok Kin Y, Jabbari Edwin, Simone Roberto, R'Bibo Lea, Brandner Sebastian, Ellis Matthew J, Attems Johannes, Mann David, Halliday Glenda M, Al-Sarraj S, Hedreen J, Ironside James W, Kovacs Gabor G, Kovari E, Love S, Vonsattel Jean Paul G, Allinson Kieren S J, Hansen Daniela, Bradshaw Teisha, Setó-Salvia Núria, Wray Selina, de Silva Rohan, Morris Huw R, Warner Thomas T, Hardy John, Holton Janice L, Revesz Tam |
| The Frequency of Genetic Mutations Associated With Behavioral Variant Frontotemporal Dementia in Chinese Han Patients. Frontiers in aging neuroscience 2021 13 699836. Liu Li, Cui Bo, Chu Min, Cui Yue, Jing Donglai, Li Dan, Xie Kexin, Kong Yu, Xia Tianxinyu, Wang Chaodong, Wu Liyo |
| 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 |
| Network connectivity alterations across the MAPT mutation clinical spectrum. Annals of neurology 2023 7 . Liwen Zhang, Taru M Flagan, Suvi Häkkinen, Stephanie A Chu, Jesse A Brown, Alex J Lee, Lorenzo Pasquini, Maria Luisa Mandelli, Maria Luisa Gorno-Tempini, Virginia E Sturm, Jennifer S Yokoyama, Brian S Appleby, Yann Cobigo, Bradford C Dickerson, Kimiko Domoto-Reilly, Daniel H Geschwind, Nupur Ghoshal, Neill R Graff-Radford, Murray Grossman, Ging-Yuek Robin Hsiung, Edward D Huey, Kejal Kantarci, Argentina Lario Lago, Irene Litvan, Ian R Mackenzie, Mario F Mendez, Chiadi U Onyike, Eliana Marisa Ramos, Erik D Roberson, Maria Carmela Tartaglia, Arthur W Toga, Sandra Weintraub, Zbigniew K Wszolek, Leah K Forsberg, Hilary W Heuer, Bradley F Boeve, Adam L Boxer, Howard J Rosen, Bruce L Miller, William W Seeley, Suzee E Lee, |
| Evaluating the Association Between Genetically Proxied Neurodevelopmental Language Phenotypes and the Risk for Primary Progressive Aphasia. Neurology 2023 3 . Nassan Malik, Piras Ignazio S, Rogalski Emily, Geula Changiz, Mesulam M-Marsel, Huentelman Ma |
| Large-scale network analysis of the cerebrospinal fluid proteome identifies molecular signatures of frontotemporal lobar degeneration. Research square 2024 4 . Rowan Saloner, Adam Staffaroni, Eric Dammer, Erik C B Johnson, Emily Paolillo, Amy Wise, Hilary Heuer, Leah Forsberg, Argentina Lario Lago, Julia Webb, Jacob Vogel, Alexander Santillo, Oskar Hansson, Joel Kramer, Bruce Miller, Jingyao Li, Joseph Loureiro, Rajeev Sivasankaran, Kathleen Worringer, Nicholas Seyfried, Jennifer Yokoyama, William Seeley, Salvatore Spina, Lea Grinberg, Lawren VandeVrede, Peter Ljubenkov, Ece Bayram, Andrea Bozoki, Danielle Brushaber, Ciaran Considine, Gregory Day, Bradford Dickerson, Kimiko Domoto-Reilly, Kelley Faber, Douglas Galasko, Daniel Geschwind, Nupur Ghoshal, Neill Graff-Radford, Chadwick Hales, Lawrence Honig, Ging-Yuek Hsiung, Edward Huey, John Kornak, Walter Kremers, Maria Lapid, Suzee Lee, Irene Litvan, Corey McMillan, Mario Mendez, Toji Miyagawa, Alexander Pantelyat, Belen Pascual, Henry Paulson, Leonard Petrucelli, Peter Pressman, Eliana Ramos, Katya Rascovsky, Erik Roberson, Rodolfo Savica, Allison Snyder, A Campbell Sullivan, Carmela Tartaglia, Marijne Vandebergh, Bradley Boeve, Howie Rosen, Julio Rojas, Adam Boxer, Kaitlin Casalet |
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