HuGE Literature Finder
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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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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- Page last updated:May 20, 2022
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