HuGE Literature Finder
Records 1-30
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Cognitive profiles discriminate between genetic variants of behavioral frontotemporal dementia.
Journal of neurology 2020 Feb . Poos J M, Jiskoot L C, Leijdesdorff S M J, Seelaar H, Panman J L, van der Ende E L, Mol M O, Meeter L H H, Pijnenburg Y A L, Donker Kaat L, de Jong F J, van Swieten J C, Papma J M, van den Berg |
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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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Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.
Alzheimer's & dementia : the journal of the Alzheimer's Association 2020 Jan 16 (1): 118-130. Ramos Eliana Marisa, Dokuru Deepika Reddy, Van Berlo Victoria, Wojta Kevin, Wang Qing, Huang Alden Y, Deverasetty Sandeep, Qin Yue, van Blitterswijk Marka, Jackson Jazmyne, Appleby Brian, Bordelon Yvette, Brannelly Patrick, Brushaber Danielle E, Dickerson Bradford, Dickinson Susan, Domoto-Reilly Kimiko, Faber Kelley, Fields Julie, Fong Jamie, Foroud Tatiana, Forsberg Leah K, Gavrilova Ralitza, Ghoshal Nupur, Goldman Jill, Graff-Radford Jonathan, Graff-Radford Neill, Grant Ian, Grossman Murray, Heuer Hilary W, Hsiung Ging-Yuek R, Huey Edward, Irwin David, Kantarci Kejal, Karydas Anna, Kaufer Daniel, Kerwin Diana, Knopman David, Kornak John, Kramer Joel H, Kremers Walter, Kukull Walter, Litvan Irene, Ljubenkov Peter, Lungu Codrin, Mackenzie Ian, Mendez Mario F, Miller Bruce L, Onyike Chiadi, Pantelyat Alexander, Pearlman Rodney, Petrucelli Len, Potter Madeline, Rankin Katherine P, Rascovsky Katya, Roberson Erik D, Rogalski Emily, Shaw Leslie, Syrjanen Jeremy, Tartaglia Maria Carmela, Tatton Nadine, Taylor Joanne, Toga Arthur, Trojanowski John Q, Weintraub Sandra, Wong Bonnie, Wszolek Zbigniew, Rademakers Rosa, Boeve Brad F, Rosen Howard J, Boxer Adam L, , Coppola Giovan |
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Multimodal MRI of grey matter, white matter, and functional connectivity in cognitively healthy mutation carriers at risk for frontotemporal dementia and Alzheimer's disease.
BMC neurology 2019 Dec 19 (1): 343. Feis Rogier A, Bouts Mark J R J, Dopper Elise G P, Filippini Nicola, Heise Verena, Trachtenberg Aaron J, van Swieten John C, van Buchem Mark A, van der Grond Jeroen, Mackay Clare E, Rombouts Serge A R |
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Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study.
The Lancet. Neurology 2019 Dec 18 (12): 1103-1111. van der Ende Emma L, Meeter Lieke H, Poos Jackie M, Panman Jessica L, Jiskoot Lize C, Dopper Elise G P, Papma Janne M, de Jong Frank Jan, Verberk Inge M W, Teunissen Charlotte, Rizopoulos Dimitris, Heller Carolin, Convery Rhian S, Moore Katrina M, Bocchetta Martina, Neason Mollie, Cash David M, Borroni Barbara, Galimberti Daniela, Sanchez-Valle Raquel, Laforce Robert, Moreno Fermin, Synofzik Matthis, Graff Caroline, Masellis Mario, Carmela Tartaglia Maria, Rowe James B, Vandenberghe Rik, Finger Elizabeth, Tagliavini Fabrizio, de Mendonça Alexandre, Santana Isabel, Butler Chris, Ducharme Simon, Gerhard Alex, Danek Adrian, Levin Johannes, Otto Markus, Frisoni Giovanni B, Cappa Stefano, Pijnenburg Yolande A L, Rohrer Jonathan D, van Swieten John C, |
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Putative risk alleles for LATE-NC with hippocampal sclerosis in population-representative autopsy cohorts.
Brain pathology (Zurich, Switzerland) 2019 Aug . Hokkanen Suvi R K, Kero Mia, Kaivola Karri, Hunter Sally, Keage Hannah A D, Kiviharju Anna, Raunio Anna, Tienari Pentti J, Paetau Anders, Matthews Fiona E, Fleming Jane, Graff Caroline, Polvikoski Tuomo M, Myllykangas Liisa, Brayne Carol, |
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Mutation Analysis of the Genes Linked to Early Onset Alzheimer's Disease and Frontotemporal Lobar Degeneration.
Journal of Alzheimer's disease : JAD 2019 May . Luukkainen Laura, Helisalmi Seppo, Kytövuori Laura, Ahmasalo Riitta, Solje Eino, Haapasalo Annakaisa, Hiltunen Mikko, Remes Anne M, Krüger Johan |
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Longitudinal multimodal MRI as prognostic and diagnostic biomarker in presymptomatic familial frontotemporal dementia.
Brain : a journal of neurology 2019 01 142 (1): 193-208. Jiskoot Lize C, Panman Jessica L, Meeter Lieke H, Dopper Elise G P, Donker Kaat Laura, Franzen Sanne, van der Ende Emma L, van Minkelen Rick, Rombouts Serge A R B, Papma Janne M, van Swieten John |
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Next Generation Sequencing Analysis in Early Onset Dementia Patients.
Journal of Alzheimer's disease : JAD 2019 67 (1): 243-256. Bonvicini Cristian, Scassellati Catia, Benussi Luisa, Di Maria Emilio, Maj Carlo, Ciani Miriam, Fostinelli Silvia, Mega Anna, Bocchetta Martina, Lanzi Gaetana, Giacopuzzi Edoardo, Ferraboli Sergio, Pievani Michela, Fedi Virginia, Defanti Carlo Alberto, Giliani Silvia, , Frisoni Giovanni Battista, Ghidoni Roberta, Gennarelli Massi |
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Peripheral GRN mRNA and Serum Progranulin Levels as a Potential Indicator for Both the Presence of Splice Site Mutations and Individuals at Risk for Frontotemporal Dementia.
Journal of Alzheimer's disease : JAD 2019 67 (1): 159-167. Guven Gamze, Bilgic Basar, Tufekcioglu Zeynep, Erginel Unaltuna Nihan, Hanagasi Hasmet, Gurvit Hakan, Singleton Andrew, Hardy John, Emre Murat, Gulec Cagri, Bras Jose, Guerreiro Rita, Lohmann Eb |
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Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.
The Lancet. Neurology 2018 Jun 17 (6): 548-558. Pottier Cyril, Zhou Xiaolai, Perkerson Ralph B, Baker Matt, Jenkins Gregory D, Serie Daniel J, Ghidoni Roberta, Benussi Luisa, Binetti Giuliano, López de Munain Adolfo, Zulaica Miren, Moreno Fermin, Le Ber Isabelle, Pasquier Florence, Hannequin Didier, Sánchez-Valle Raquel, Antonell Anna, Lladó Albert, Parsons Tammee M, Finch NiCole A, Finger Elizabeth C, Lippa Carol F, Huey Edward D, Neumann Manuela, Heutink Peter, Synofzik Matthis, Wilke Carlo, Rissman Robert A, Slawek Jaroslaw, Sitek Emilia, Johannsen Peter, Nielsen Jørgen E, Ren Yingxue, van Blitterswijk Marka, DeJesus-Hernandez Mariely, Christopher Elizabeth, Murray Melissa E, Bieniek Kevin F, Evers Bret M, Ferrari Camilla, Rollinson Sara, Richardson Anna, Scarpini Elio, Fumagalli Giorgio G, Padovani Alessandro, Hardy John, Momeni Parastoo, Ferrari Raffaele, Frangipane Francesca, Maletta Raffaele, Anfossi Maria, Gallo Maura, Petrucelli Leonard, Suh EunRan, Lopez Oscar L, Wong Tsz H, van Rooij Jeroen G J, Seelaar Harro, Mead Simon, Caselli Richard J, Reiman Eric M, Noel Sabbagh Marwan, Kjolby Mads, Nykjaer Anders, Karydas Anna M, Boxer Adam L, Grinberg Lea T, Grafman Jordan, Spina Salvatore, Oblak Adrian, Mesulam M-Marsel, Weintraub Sandra, Geula Changiz, Hodges John R, Piguet Olivier, Brooks William S, Irwin David J, Trojanowski John Q, Lee Edward B, Josephs Keith A, Parisi Joseph E, Ertekin-Taner Nilüfer, Knopman David S, Nacmias Benedetta, Piaceri Irene, Bagnoli Silvia, Sorbi Sandro, Gearing Marla, Glass Jonathan, Beach Thomas G, Black Sandra E, Masellis Mario, Rogaeva Ekaterina, Vonsattel Jean-Paul, Honig Lawrence S, Kofler Julia, Bruni Amalia C, Snowden Julie, Mann David, Pickering-Brown Stuart, Diehl-Schmid Janine, Winkelmann Juliane, Galimberti Daniela, Graff Caroline, Öijerstedt Linn, Troakes Claire, Al-Sarraj Safa, Cruchaga Carlos, Cairns Nigel J, Rohrer Jonathan D, Halliday Glenda M, Kwok John B, van Swieten John C, White Charles L, Ghetti Bernardino, Murell Jill R, Mackenzie Ian R A, Hsiung Ging-Yuek R, Borroni Barbara, Rossi Giacomina, Tagliavini Fabrizio, Wszolek Zbigniew K, Petersen Ronald C, Bigio Eileen H, Grossman Murray, Van Deerlin Vivianna M, Seeley William W, Miller Bruce L, Graff-Radford Neill R, Boeve Bradley F, Dickson Dennis W, Biernacka Joanna M, Rademakers Ro |
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Progranulin levels in blood in Alzheimer's disease and mild cognitive impairment.
Annals of clinical and translational neurology 2018 May 5 (5): 616-629. Cooper Yonatan A, Nachun Daniel, Dokuru Deepika, Yang Zhongan, Karydas Anna M, Serrero Ginette, Yue Binbin, , Boxer Adam L, Miller Bruce L, Coppola Giovan |
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Targeted exome sequencing reveals homozygous TREM2 R47C mutation presenting with behavioral variant frontotemporal dementia without bone involvement.
Neurobiology of aging 2018 Apr . Ng Adeline Sl, Tan Yi Jayne, Yi Zhao, Tandiono Moses, Chew Elaine, Dominguez Jacqueline, Macas Mabel, Ng Ebonne, Hameed Shahul, Ting Simon, Tan Eng King, Foo Jia Nee, Kandiah Nagaendr |
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Combined Pathologies in FTLD-TDP Types A and C.
Journal of neuropathology and experimental neurology 2018 Mar . Gefen Tamar, Ahmadian Saman S, Mao Qinwen, Kim Garam, Seckin Mustafa, Bonakdarpour Borna, Ramos Eliana Marisa, Coppola Giovanni, Rademakers Rosa, Rogalski Emily, Rademaker Alfred, Weintraub Sandra, Mesulam M-Marsel, Geula Changiz, Bigio Eileen |
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Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project.
Dementia and geriatric cognitive disorders 2018 Feb 45 (1): 1-17. Blue Elizabeth E, Bis Joshua C, Dorschner Michael O, Tsuang Debby W, Barral Sandra M, Beecham Gary, Below Jennifer E, Bush William S, Butkiewicz Mariusz, Cruchaga Carlos, DeStefano Anita, Farrer Lindsay A, Goate Alison, Haines Jonathan, Jaworski Jim, Jun Gyungah, Kunkle Brian, Kuzma Amanda, Lee Jenny J, Lunetta Kathryn L, Ma Yiyi, Martin Eden, Naj Adam, Nato Alejandro Q, Navas Patrick, Nguyen Hiep, Reitz Christiane, Reyes Dolly, Salerno William, Schellenberg Gerard D, Seshadri Sudha, Sohi Harkirat, Thornton Timothy A, Valadares Otto, van Duijn Cornelia, Vardarajan Badri N, Wang Li-San, Boerwinkle Eric, Dupuis Josée, Pericak-Vance Margaret A, Mayeux Richard, Wijsman Ellen M, |
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Genetics of dementia in a Finnish cohort.
European journal of human genetics : EJHG 2018 Feb . Pasanen Petra, Myllykangas Liisa, Pöyhönen Minna, Kiviharju Anna, Siitonen Maija, Hardy John, Bras Jose, Paetau Anders, Tienari Pentti J, Guerreiro Rita, Verkkoniemi-Ahola Au |
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Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.
Frontiers in neuroscience 2018 12 230. Ibanez Laura, Dube Umber, Davis Albert A, Fernandez Maria V, Budde John, Cooper Breanna, Diez-Fairen Monica, Ortega-Cubero Sara, Pastor Pau, Perlmutter Joel S, Cruchaga Carlos, Benitez Bruno |
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Thalamic atrophy in frontotemporal dementia - Not just a
NeuroImage. Clinical 2018 18 675-681. Bocchetta Martina, Gordon Elizabeth, Cardoso M Jorge, Modat Marc, Ourselin Sebastien, Warren Jason D, Rohrer Jonathan |
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Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: results from the GENFI study.
Neurobiology of aging 2017 Nov . Galimberti Daniela, Fumagalli Giorgio G, Fenoglio Chiara, Cioffi Sara M G, Arighi Andrea, Serpente Maria, Borroni Barbara, Padovani Alessandro, Tagliavini Fabrizio, Masellis Mario, Tartaglia Maria Carmela, van Swieten John, Meeter Lieke, Graff Caroline, de Mendonça Alexandre, Bocchetta Martina, Rohrer Jonathan D, Scarpini Elio, |
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The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.
Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jul . Blauwendraat Cornelis, Wilke Carlo, Simón-Sánchez Javier, Jansen Iris E, Reifschneider Anika, Capell Anja, Haass Christian, Castillo-Lizardo Melissa, Biskup Saskia, Maetzler Walter, Rizzu Patrizia, Heutink Peter, Synofzik Matth |
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TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3).
Neurobiology of aging 2017 Jul . Rostgaard Nina, Roos Peter, Budtz-Jørgensen Esben, Johannsen Peter, Waldemar Gunhild, Nørremølle Anne, Lindquist Suzanne G, Gydesen Susanne, Brown Jeremy M, Collinge John, Isaacs Adrian M, , Nielsen Troels T, Nielsen Jørgen |
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Genetic Features of MAPT, GRN, C9orf72 and CHCHD10 Gene Mutations in Chinese Patients with Frontotemporal Dementia.
Current Alzheimer research 2017 Apr . Che Xiang-Qian, Zhao Qian-Hua, Huang Yue, Li Xia, Ren Ru-Jing, Chen Sheng-Di, Wang Gang, Guo Qi-H |
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CSF protein changes associated with hippocampal sclerosis risk gene variants highlight impact of GRN/PGRN.
Experimental gerontology 2017 Feb . Fardo David W, Katsumata Yuriko, Kauwe John S K, Deming Yuetiva, Harari Oscar, Cruchaga Carlos, , Nelson Peter |
Differential Aging Analysis in Human Cerebral Cortex Identifies Variants in TMEM106B and GRN that Regulate Aging Phenotypes.
Cell systems 2017 04 4 (4): 404-415.e5. Rhinn Herve, Abeliovich A |
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Frontotemporal dementia-related gene mutations in clinical dementia patients from a Chinese population.
Journal of human genetics 2016 Dec 61 (12): 1003-1008. Shi Zhihong, Liu Shuai, Xiang Lei, Wang Ying, Liu Mengyuan, Liu Shuling, Han Tong, Zhou Yuying, Wang Jinhuan, Cai Li, Gao Shuo, Ji Yo |
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Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Genome research 2016 Dec . Keogh Michael J, Wei Wei, Wilson Ian, Coxhead Jon, Ryan Sarah, Rollinson Sara, Griffin Helen, Kurzawa-Akanbi Marzena, Santibanez-Koref Mauro, Talbot Kevin, Turner Martin R, McKenzie Chris-Anne, Troakes Claire, Attems Johannes, Smith Colin, Al Sarraj Safa, Morris Chris M, Ansorge Olaf, Pickering-Brown Stuart, Ironside James W, Chinnery Patrick |
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Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia.
Neuro-degenerative diseases 2016 Oct 17 (2-3): 83-88. Wilke Carlo, Gillardon Frank, Deuschle Christian, Hobert Markus A, Jansen Iris E, Metzger Florian G, Heutink Peter, Gasser Thomas, Maetzler Walter, Blauwendraat Cornelis, Synofzik Matth |
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Soluble sortilin is present in excess and positively correlates with progranulin in CSF of aging individuals.
Experimental gerontology 2016 Sep 84 96-100. Molgaard Simon, Demontis Ditte, Nicholson Alexandra M, Finch Nicole A, Petersen Ronald C, Petersen Claus M, Rademakers Rosa, Nykjaer Anders, Glerup Sim |
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Neurofilament light chain: a biomarker for genetic frontotemporal dementia.
Annals of clinical and translational neurology 2016 Aug 3 (8): 623-36. Meeter Lieke H, Dopper Elise G, Jiskoot Lize C, Sanchez-Valle Raquel, Graff Caroline, Benussi Luisa, Ghidoni Roberta, Pijnenburg Yolande A, Borroni Barbara, Galimberti Daniela, Laforce Robert Jr, Masellis Mario, Vandenberghe Rik, Ber Isabelle Le, Otto Markus, van Minkelen Rick, Papma Janne M, Rombouts Serge A, Balasa Mircea, Öijerstedt Linn, Jelic Vesna, Dick Katrina M, Cash David M, Harding Sophie R, Jorge Cardoso M, Ourselin Sebastien, Rossor Martin N, Padovani Alessandro, Scarpini Elio, Fenoglio Chiara, Tartaglia Maria C, Lamari Foudil, Barro Christian, Kuhle Jens, Rohrer Jonathan D, Teunissen Charlotte E, van Swieten John |
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Serum neurofilament light chain protein is a measure of disease intensity in frontotemporal dementia.
Neurology 2016 Aug . Rohrer Jonathan D, Woollacott Ione O C, Dick Katrina M, Brotherhood Emilie, Gordon Elizabeth, Fellows Alexander, Toombs Jamie, Druyeh Ronald, Cardoso M Jorge, Ourselin Sebastien, Nicholas Jennifer M, Norgren Niklas, Mead Simon, Andreasson Ulf, Blennow Kaj, Schott Jonathan M, Fox Nick C, Warren Jason D, Zetterberg Henr |
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A Novel Splice-Acceptor Site Mutation in GRN (c.709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy.
Journal of Alzheimer's disease : JAD 2016 May . Sassi Celeste, Capozzo Rosa, Gibbs Raphael, Crews Cynthia, Zecca Chiara, Arcuti Simona, Copetti Massimiliano, Barulli Maria R, Brescia Vincenzo, Singleton Andrew B, Logroscino Giancar |
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Analyses MAPT, GRN, and C9orf72 mutations in Chinese patients with frontotemporal dementia.
Neurobiology of aging 2016 May . Tang Min, Gu Xiaohua, Wei Jingya, Jiao Bin, Zhou Lin, Zhou Yafang, Weng Ling, Yan Xinxiang, Tang Beisha, Xu Jun, Shen |
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GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil.
Alzheimer disease and associated disorders 2016 Apr . Takada Leonel T, Bahia Valeria S, Guimarães Henrique C, Costa Thais V M M, Vale Thiago C, Rodriguez Roberta D, Porto Fabio H G, Machado João C B, Beato Rogério G, Cesar Karolina G, Smid Jerusa, Nascimento Camila F, Grinberg Lea T, Brucki Sonia M D, Maximino Jessica R, Camargos Sarah T, Chadi Gerson, Caramelli Paulo, Nitrini Ricar |
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Hippocampal Sclerosis of Aging, a Common Alzheimer's Disease 'Mimic': Risk Genotypes are Associated with Brain Atrophy Outside the Temporal Lobe.
Journal of Alzheimer's disease : JAD 2016 Mar . Nho Kwangsik, Saykin Andrew J, , Nelson Peter |
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Novel PSEN1 mutations (H214N and R220P) associated with familial Alzheimer's disease identified by targeted exome sequencing.
Neurobiology of aging 2016 Feb . Piccoli Elena, Rossi Giacomina, Rossi Tommaso, Pelliccioni Giuseppe, D'Amato Ilaria, Tagliavini Fabrizio, Di Fede Giusep |
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White matter hyperintensities characterize monogenic frontotemporal dementia with granulin mutations.
Neurobiology of aging 2016 Feb 38 176-80. Paternicò Donata, Premi Enrico, Gazzina Stefano, Cosseddu Maura, Alberici Antonella, Archetti Silvana, Cotelli Maria S, Micheli Anna, Turla Marinella, Gasparotti Roberto, Padovani Alessandro, Borroni Barba |
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PGRN Is Associated with Late-Onset Alzheimer's Disease: a Case-Control Replication Study and Meta-analysis.
Molecular neurobiology 2016 Jan . Xu Hui-Min, Tan Lin, Wan Yu, Tan Meng-Shan, Zhang Wei, Zheng Zhan-Jie, Kong Ling-Li, Wang Zi-Xuan, Jiang Teng, Tan Lan, Yu Jin-T |
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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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Novel GRN Mutations in Patients with Corticobasal Syndrome.
Scientific reports 2016 6 22913. Taghdiri Foad, Sato Christine, Ghani Mahdi, Moreno Danielle, Rogaeva Ekaterina, Tartaglia Maria Carme |
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Presymptomatic cognitive decline in familial frontotemporal dementia: A longitudinal study.
Neurology 2016 07 87 (4): 384-91. Jiskoot Lize C, Dopper Elise G P, Heijer Tom den, Timman Reinier, van Minkelen Rick, van Swieten John C, Papma Janne |
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Progranulin Mutations Affects Brain Oscillatory Activity in Fronto-Temporal Dementia.
Frontiers in aging neuroscience 2016 8 35. Moretti Davide V, Benussi Luisa, Fostinelli Silvia, Ciani Miriam, Binetti Giuliano, Ghidoni Rober |
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Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort.
Brain : a journal of neurology 2015 Dec . Van Mossevelde Sara, van der Zee Julie, Gijselinck Ilse, Engelborghs Sebastiaan, Sieben Anne, Van Langenhove Tim, De Bleecker Jan, Baets Jonathan, Vandenbulcke Mathieu, Van Laere Koen, Ceyssens Sarah, Van den Broeck Marleen, Peeters Karin, Mattheijssens Maria, Cras Patrick, Vandenberghe Rik, De Jonghe Peter, Martin Jean-Jacques, De Deyn Peter P, Cruts Marc, Van Broeckhoven Christine, |
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Progranulin mutation analysis: Identification of one novel mutation in exon 12 associated with frontotemporal dementia.
Neurobiology of aging 2015 Dec . Aswathy Peethambaran Mallika, Jairani Pushparajan Sulajamani, Raghavan Sheela Kumari, Verghese Joe, Gopala Srinivas, Srinivas Priya, Mathuranath Pavagada Sivasanka |
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Progranulin Protein Levels in Cerebrospinal Fluid in Primary Neurodegenerative Dementias.
Journal of Alzheimer's disease : JAD 2015 Dec . Morenas-Rodríguez Estrella, Cervera-Carles Laura, Vilaplana Eduard, Alcolea Daniel, Carmona-Iragui María, Dols-Icardo Oriol, Ribosa-Nogué Roser, Muñoz-Llahuna Laia, Sala Isabel, Belén Sánchez-Saudinós M, Blesa Rafael, Clarimón Jordi, Fortea Juan, Lleó Alber |
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Distinct clinical and pathological phenotypes in frontotemporal dementia associated with MAPT, PGRN and C9orf72 mutations.
Amyotrophic lateral sclerosis & frontotemporal degeneration 2015 Oct 1-9. Snowden Julie S, Adams Jennifer, Harris Jennifer, Thompson Jennifer C, Rollinson Sara, Richardson Anna, Jones Matthew, Neary David, Mann David M, Pickering-Brown Stua |
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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 |
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Rare variants in ?-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 |
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Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.
Acta neuropathologica 2015 Jul 130 (1): 77-92. Pottier Cyril, Bieniek Kevin F, Finch NiCole, van de Vorst Maartje, Baker Matt, Perkersen Ralph, Brown Patricia, Ravenscroft Thomas, van Blitterswijk Marka, Nicholson Alexandra M, DeTure Michael, Knopman David S, Josephs Keith A, Parisi Joseph E, Petersen Ronald C, Boylan Kevin B, Boeve Bradley F, Graff-Radford Neill R, Veltman Joris A, Gilissen Christian, Murray Melissa E, Dickson Dennis W, Rademakers Ro |
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Brain atrophy over time in genetic and sporadic frontotemporal dementia: a study of 198 serial magnetic resonance images.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2015 May 22 (5): 745-52. Whitwell J L, Boeve B F, Weigand S D, Senjem M L, Gunter J L, Baker M C, DeJesus-Hernandez M, Knopman D S, Wszolek Z K, Petersen R C, Rademakers R, Jack C R, Josephs K |
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Association of progranulin polymorphism rs5848 with neurodegenerative diseases: a meta-analysis.
Journal of neurology 2015 Apr 262 (4): 814-22. Chen Yongdui, Li Siqi, Su Liling, Sheng Jinghao, Lv Wen, Chen Guangdi, Xu Zhengpi |
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Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis.
The Lancet. Neurology 2015 Mar 14 (3): 253-62. Rohrer Jonathan D, Nicholas Jennifer M, Cash David M, van Swieten John, Dopper Elise, Jiskoot Lize, van Minkelen Rick, Rombouts Serge A, Cardoso M Jorge, Clegg Shona, Espak Miklos, Mead Simon, Thomas David L, De Vita Enrico, Masellis Mario, Black Sandra E, Freedman Morris, Keren Ron, MacIntosh Bradley J, Rogaeva Ekaterina, Tang-Wai David, Tartaglia Maria Carmela, Laforce Robert, Tagliavini Fabrizio, Tiraboschi Pietro, Redaelli Veronica, Prioni Sara, Grisoli Marina, Borroni Barbara, Padovani Alessandro, Galimberti Daniela, Scarpini Elio, Arighi Andrea, Fumagalli Giorgio, Rowe James B, Coyle-Gilchrist Ian, Graff Caroline, Fallström Marie, Jelic Vesna, Ståhlbom Anne Kinhult, Andersson Christin, Thonberg Håkan, Lilius Lena, Frisoni Giovanni B, Pievani Michela, Bocchetta Martina, Benussi Luisa, Ghidoni Roberta, Finger Elizabeth, Sorbi Sandro, Nacmias Benedetta, Lombardi Gemma, Polito Cristina, Warren Jason D, Ourselin Sebastien, Fox Nick C, Rossor Martin |
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Reassessment of risk genotypes (GRN, TMEM106B, and ABCC9 variants) associated with hippocampal sclerosis of aging pathology.
Journal of neuropathology and experimental neurology 2015 Jan 74 (1): 75-84. Nelson Peter T, Wang Wang-Xia, Partch Amanda B, Monsell Sarah E, Valladares Otto, Ellingson Sally R, Wilfred Bernard R, Naj Adam C, Wang Li-San, Kukull Walter A, Fardo David |
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Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains.
Acta neuropathologica communications 2015 3 68. Janssens Jonathan, Philtjens Stéphanie, Kleinberger Gernot, Van Mossevelde Sara, van der Zee Julie, Cacace Rita, Engelborghs Sebastiaan, Sieben Anne, Banzhaf-Strathmann Julia, Dillen Lubina, Merlin Céline, Cuijt Ivy, Robberecht Caroline, Schmid Bettina, Santens Patrick, Ivanoiu Adrian, Vandenbulcke Mathieu, Vandenberghe Rik, Cras Patrick, De Deyn Peter P, Martin Jean-Jacques, Maudsley Stuart, Haass Christian, Cruts Marc, Van Broeckhoven Christine, |
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Profiling of ubiquitination pathway genes in peripheral cells from patients with frontotemporal dementia due to C9ORF72 and GRN mutations.
International journal of molecular sciences 2015 16 (1): 1385-94. Serpente Maria, Fenoglio Chiara, Cioffi Sara M G, Bonsi Rossana, Arighi Andrea, Fumagalli Giorgio G, Ghezzi Laura, Scarpini Elio, Galimberti Danie |
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Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease.
Neurobiology of aging 2014 Dec 35 (12): 2881.e1-6. Sassi Celeste, Guerreiro Rita, Gibbs Raphael, Ding Jinhui, Lupton Michelle K, Troakes Claire, Al-Sarraj Safa, Niblock Michael, Gallo Jean-Marc, Adnan Jihad, Killick Richard, Brown Kristelle S, Medway Christopher, Lord Jenny, Turton James, Bras Jose, , Morgan Kevin, Powell John F, Singleton Andrew, Hardy Jo |
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Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and C9orf72 repeat expansions.
Neurobiology of aging 2014 Nov 35 (11): 2658.e1-5. Lattante Serena, Le Ber Isabelle, Galimberti Daniela, Serpente Maria, Rivaud-Péchoux Sophie, Camuzat Agnès, Clot Fabienne, Fenoglio Chiara, , Scarpini Elio, Brice Alexis, Kabashi Ed |
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Mutation frequency of PRKAR1B and the major familial dementia genes in a Dutch early onset dementia cohort.
Journal of neurology 2014 Nov 261 (11): 2085-92. Cohn-Hokke P E, Wong T H, Rizzu P, Breedveld G, van der Flier W M, Scheltens P, Baas F, Heutink P, Meijers-Heijboer E J, van Swieten J C, Pijnenburg Y A |
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Differential clinicopathologic and genetic features of late-onset amnestic dementias.
Acta neuropathologica 2014 Sep 128 (3): 411-21. Murray Melissa E, Cannon Ashley, Graff-Radford Neill R, Liesinger Amanda M, Rutherford Nicola J, Ross Owen A, Duara Ranjan, Carrasquillo Minerva M, Rademakers Rosa, Dickson Dennis |
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Disease-related mutations among Caribbean Hispanics with familial dementia.
Molecular genetics & genomic medicine 2014 Sep 2 (5): 430-7. Lee Joseph H, Kahn Amanda, Cheng Rong, Reitz Christiane, Vardarajan Badri, Lantigua Rafael, Medrano Martin, Jiménez-Velázquez Ivonne Z, Williamson Jennifer, Nagy Peter, Mayeux Richa |
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Frontotemporal dementia and its subtypes: a genome-wide association study.
The Lancet. Neurology 2014 Jul 13 (7): 686-99. Ferrari Raffaele, Hernandez Dena G, Nalls Michael A, Rohrer Jonathan D, Ramasamy Adaikalavan, Kwok John B J, Dobson-Stone Carol, Brooks William S, Schofield Peter R, Halliday Glenda M, Hodges John R, Piguet Olivier, Bartley Lauren, Thompson Elizabeth, Haan Eric, Hernández Isabel, Ruiz Agustín, Boada Mercè, Borroni Barbara, Padovani Alessandro, Cruchaga Carlos, Cairns Nigel J, Benussi Luisa, Binetti Giuliano, Ghidoni Roberta, Forloni Gianluigi, Galimberti Daniela, Fenoglio Chiara, Serpente Maria, Scarpini Elio, Clarimón Jordi, Lleó Alberto, Blesa Rafael, Waldö Maria Landqvist, Nilsson Karin, Nilsson Christer, Mackenzie Ian R A, Hsiung Ging-Yuek R, Mann David M A, Grafman Jordan, Morris Christopher M, Attems Johannes, Griffiths Timothy D, McKeith Ian G, Thomas Alan J, Pietrini P, Huey Edward D, Wassermann Eric M, Baborie Atik, Jaros Evelyn, Tierney Michael C, Pastor Pau, Razquin Cristina, Ortega-Cubero Sara, Alonso Elena, Perneczky Robert, Diehl-Schmid Janine, Alexopoulos Panagiotis, Kurz Alexander, Rainero Innocenzo, Rubino Elisa, Pinessi Lorenzo, Rogaeva Ekaterina, St George-Hyslop Peter, Rossi Giacomina, Tagliavini Fabrizio, Giaccone Giorgio, Rowe James B, Schlachetzki Johannes C M, Uphill James, Collinge John, Mead Simon, Danek Adrian, Van Deerlin Vivianna M, Grossman Murray, Trojanowski John Q, van der Zee Julie, Deschamps William, Van Langenhove Tim, Cruts Marc, Van Broeckhoven Christine, Cappa Stefano F, Le Ber Isabelle, Hannequin Didier, Golfier Véronique, Vercelletto Martine, Brice Alexis, Nacmias Benedetta, Sorbi Sandro, Bagnoli Silvia, Piaceri Irene, Nielsen Jørgen E, Hjermind Lena E, Riemenschneider Matthias, Mayhaus Manuel, Ibach Bernd, Gasparoni Gilles, Pichler Sabrina, Gu Wei, Rossor Martin N, Fox Nick C, Warren Jason D, Spillantini Maria Grazia, Morris Huw R, Rizzu Patrizia, Heutink Peter, Snowden Julie S, Rollinson Sara, Richardson Anna, Gerhard Alexander, Bruni Amalia C, Maletta Raffaele, Frangipane Francesca, Cupidi Chiara, Bernardi Livia, Anfossi Maria, Gallo Maura, Conidi Maria Elena, Smirne Nicoletta, Rademakers Rosa, Baker Matt, Dickson Dennis W, Graff-Radford Neill R, Petersen Ronald C, Knopman David, Josephs Keith A, Boeve Bradley F, Parisi Joseph E, Seeley William W, Miller Bruce L, Karydas Anna M, Rosen Howard, van Swieten John C, Dopper Elise G P, Seelaar Harro, Pijnenburg Yolande A L, Scheltens Philip, Logroscino Giancarlo, Capozzo Rosa, Novelli Valeria, Puca Annibale A, Franceschi Massimo, Postiglione Alfredo, Milan Graziella, Sorrentino Paolo, Kristiansen Mark, Chiang Huei-Hsin, Graff Caroline, Pasquier Florence, Rollin Adeline, Deramecourt Vincent, Lebert Florence, Kapogiannis Dimitrios, Ferrucci Luigi, Pickering-Brown Stuart, Singleton Andrew B, Hardy John, Momeni Parast |
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Genetic and neuroanatomic associations in sporadic frontotemporal lobar degeneration.
Neurobiology of aging 2014 Jun 35 (6): 1473-82. McMillan Corey T, Toledo Jon B, Avants Brian B, Cook Philip A, Wood Elisabeth M, Suh Eunran, Irwin David J, Powers John, Olm Christopher, Elman Lauren, McCluskey Leo, Schellenberg Gerard D, Lee Virginia M-Y, Trojanowski John Q, Van Deerlin Vivianna M, Grossman Murr |
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Progranulin polymorphism rs5848 is associated with increased risk of Alzheimer's disease.
Gene 2014 Jun 542 (2): 141-5. Sheng Jinghao, Su Liling, Xu Zhengping, Chen Guang |
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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 |
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TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia.
Acta neuropathologica 2014 Mar 127 (3): 397-406. van Blitterswijk Marka, Mullen Bianca, Nicholson Alexandra M, Bieniek Kevin F, Heckman Michael G, Baker Matthew C, DeJesus-Hernandez Mariely, Finch Nicole A, Brown Patricia H, Murray Melissa E, Hsiung Ging-Yuek R, Stewart Heather, Karydas Anna M, Finger Elizabeth, Kertesz Andrew, Bigio Eileen H, Weintraub Sandra, Mesulam Marsel, Hatanpaa Kimmo J, White Charles L, Strong Michael J, Beach Thomas G, Wszolek Zbigniew K, Lippa Carol, Caselli Richard, Petrucelli Leonard, Josephs Keith A, Parisi Joseph E, Knopman David S, Petersen Ronald C, Mackenzie Ian R, Seeley William W, Grinberg Lea T, Miller Bruce L, Boylan Kevin B, Graff-Radford Neill R, Boeve Bradley F, Dickson Dennis W, Rademakers Ro |
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Subcortical and Deep Cortical Atrophy in Frontotemporal Dementia due to Granulin Mutations.
Dementia and geriatric cognitive disorders extra 2014 Jan 4 (1): 95-102. Premi Enrico, Garibotto Valentina, Gazzina Stefano, Formenti Anna, Archetti Silvana, Gasparotti Roberto, Padovani Alessandro, Borroni Barba |
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ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology.
Acta neuropathologica 2014 127 (6): 825-43. Nelson Peter T, Estus Steven, Abner Erin L, Parikh Ishita, Malik Manasi, Neltner Janna H, Ighodaro Eseosa, Wang Wang-Xia, Wilfred Bernard R, Wang Li-San, Kukull Walter A, Nandakumar Kannabiran, Farman Mark L, Poon Wayne W, Corrada Maria M, Kawas Claudia H, Cribbs David H, Bennett David A, Schneider Julie A, Larson Eric B, Crane Paul K, Valladares Otto, Schmitt Frederick A, Kryscio Richard J, Jicha Gregory A, Smith Charles D, Scheff Stephen W, Sonnen Joshua A, Haines Jonathan L, Pericak-Vance Margaret A, Mayeux Richard, Farrer Lindsay A, Van Eldik Linda J, Horbinski Craig, Green Robert C, Gearing Marla, Poon Leonard W, Kramer Patricia L, Woltjer Randall L, Montine Thomas J, Partch Amanda B, Rajic Alexander J, Richmire KatieRose, Monsell Sarah E, , Schellenberg Gerard D, Fardo David |
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Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene.
Molecular neurodegeneration 2014 9 38. van Blitterswijk Marka, Mullen Bianca, Wojtas Aleksandra, Heckman Michael G, Diehl Nancy N, Baker Matthew C, DeJesus-Hernandez Mariely, Brown Patricia H, Murray Melissa E, Hsiung Ging-Yuek R, Stewart Heather, Karydas Anna M, Finger Elizabeth, Kertesz Andrew, Bigio Eileen H, Weintraub Sandra, Mesulam Marsel, Hatanpaa Kimmo J, White Charles L, Neumann Manuela, Strong Michael J, Beach Thomas G, Wszolek Zbigniew K, Lippa Carol, Caselli Richard, Petrucelli Leonard, Josephs Keith A, Parisi Joseph E, Knopman David S, Petersen Ronald C, Mackenzie Ian R, Seeley William W, Grinberg Lea T, Miller Bruce L, Boylan Kevin B, Graff-Radford Neill R, Boeve Bradley F, Dickson Dennis W, Rademakers Ro |
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Plasma phosphorylated TDP-43 levels are elevated in patients with frontotemporal dementia carrying a C9orf72 repeat expansion or a GRN mutation.
Journal of neurology, neurosurgery, and psychiatry 2013 Dec . Suárez-Calvet M, Dols-Icardo O, Lladó A, Sánchez-Valle R, Hernández I, Amer G, Antón-Aguirre S, Alcolea D, Fortea J, Ferrer I, van der Zee J, Dillen L, Van Broeckhoven C, Molinuevo JL, Blesa R, Clarimón J, Lleó A |
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Expression of TMEM106B, the frontotemporal lobar degeneration-associated protein, in normal and diseased human brain.
Acta neuropathologica communications 2013 1 (1): 1. Busch JI, Martinez-Lage M, Ashbridge E, Grossman M, Van Deerlin VM, Hu F, Lee VM, Trojanowski JQ, Chen-Plotkin AS |
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TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia.
Journal of neurochemistry 2013 Sep 126 (6): 781-91. Nicholson Alexandra M, Finch Nicole A, Wojtas Aleksandra, Baker Matt C, Perkerson Ralph B, Castanedes-Casey Monica, Rousseau Linda, Benussi Luisa, Binetti Giuliano, Ghidoni Roberta, Hsiung Ging-Yuek R, Mackenzie Ian R, Finger Elizabeth, Boeve Bradley F, Ertekin-Taner Nilüfer, Graff-Radford Neill R, Dickson Dennis W, Rademakers Ro |
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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 |
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The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-?4 carriers.
PLoS genetics 2013 9 (8): e1003685. Benitez Bruno A, Karch Celeste M, Cai Yefei, Jin Sheng Chih, Cooper Breanna, Carrell David, Bertelsen Sarah, Chibnik Lori, Schneider Julie A, Bennett David A, , , Fagan Anne M, Holtzman David, Morris John C, Goate Alison M, Cruchaga Carl |
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Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy.
Neurobiology of aging 2012 Dec 33 (12): 2948.e1-2948.e10. Bernardi Livia, Frangipane Francesca, Smirne Nicoletta, Colao Rosanna, Puccio Gianfranco, Curcio Sabrina A M, Mirabelli Maria, Maletta Raffaele, Anfossi Maria, Gallo Maura, Geracitano Silvana, Conidi Maria Elena, Di Lorenzo Raffale, Clodomiro Alessandra, Cupidi Chiara, Marzano Sandra, Comito Francesco, Valenti Vincenzo, Zirilli Maria Angela, Ghani Mahdi, Xi Zhengrui, Sato Christine, Moreno Danielle, Borelli Annelisa, Leone Rosa Anna, St George-Hyslop Peter, Rogaeva Ekaterina, Bruni Amalia |
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Neuropsychological Features of Asymptomatic c.709-1G>A Progranulin Mutation Carriers.
Journal of the International Neuropsychological Society : JINS 2012 Nov 18 (6): 6. Barandiaran M, Estanga A, Moreno F, Indakoetxea B, Alzualde A, Balluerka N, Martí Massó JF, de Munain AL |
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Expansion mutation in C9ORF72 does not influence plasma progranulin levels in frontotemporal dementia.
Neurobiology of aging 2012 Aug 33 (8): 1851.e17-9. Dols-Icardo Oriol, Suárez-Calvet Marc, Hernández Isabel, Amer Guillermo, Antón-Aguirre Sofía, Alcolea Daniel, Fortea Juan, Boada Mercè, Tárraga Lluís, Blesa Rafael, Lleó Alberto, Clarimón Jor |
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Screening for C9ORF72 repeat expansion in FTLD.
Neurobiology of aging 2012 Mar . Ferrari R, Mok K, Moreno JH, Cosentino S, Goldman J, Pietrini P, Mayeux R, Tierney MC, Kapogiannis D, Jicha GA, Murrell JR, Ghetti B, Wassermann EM, Grafman J, Hardy J, Huey ED, Momeni P |
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C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic.
American journal of neurodegenerative disease 2012 1 (1): 1. Wojtas A, Heggeli KA, Finch N, Baker M, Dejesus-Hernandez M, Younkin SG, Dickson DW, Graff-Radford NR, Rademakers R |
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Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families.
PloS one 2012 7 (2): 2. Cruchaga C, Chakraverty S, Mayo K, Vallania FL, Mitra RD, Faber K, Williamson J, Bird T, Diaz-Arrastia R, Foroud TM, Boeve BF, Graff-Radford NR, St Jean P, Lawson M, Ehm MG, Mayeux R, Goate AM |
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Progranulin genetic screening in frontotemporal lobar degeneration patients from central Italy.
Cellular and molecular neurobiology 2012 Jan 32 (1): 13-6. Bagnoli Silvia, Piaceri Irene, Tedde Andrea, Piacentini Silvia, Nannucci Serena, Bracco Laura, Sorbi Sandro, Nacmias Benedet |
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Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort.
Alzheimer's research & therapy 2012 4 (4): 34. Jin Sheng Chih, Pastor Pau, Cooper Breanna, Cervantes Sebastian, Benitez Bruno A, Razquin Cristina, Goate Alison, , Cruchaga Carl |
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Progranulin gene variability and plasma levels in bipolar disorder and schizophrenia.
PloS one 2012 7 (4): e32164. Galimberti Daniela, Dell'Osso Bernardo, Fenoglio Chiara, Villa Chiara, Cortini Francesca, Serpente Maria, Kittel-Schneider Sarah, Weigl Johannes, Neuner Maria, Volkert Juliane, Leonhard C, Olmes David G, Kopf Juliane, Cantoni Claudia, Ridolfi Elisa, Palazzo Carlotta, Ghezzi Laura, Bresolin Nereo, Altamura A C, Scarpini Elio, Reif Andre |
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Trajectories of brain and hippocampal atrophy in FTD with mutations in MAPT or GRN.
Neurology 2011 Jul 77 (4): 393-8. Whitwell J L, Weigand S D, Gunter J L, Boeve B F, Rademakers R, Baker M, Knopman D S, Wszolek Z K, Petersen R C, Jack C R, Josephs K |
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Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.
Archives of neurology 2011 Apr 68 (4): 488-97. Chen-Plotkin Alice S, Martinez-Lage Maria, Sleiman Patrick M A, Hu William, Greene Robert, Wood Elisabeth McCarty, Bing Shaoxu, Grossman Murray, Schellenberg Gerard D, Hatanpaa Kimmo J, Weiner Myron F, White Charles L, Brooks William S, Halliday Glenda M, Kril Jillian J, Gearing Marla, Beach Thomas G, Graff-Radford Neill R, Dickson Dennis W, Rademakers Rosa, Boeve Bradley F, Pickering-Brown Stuart M, Snowden Julie, van Swieten John C, Heutink Peter, Seelaar Harro, Murrell Jill R, Ghetti Bernardino, Spina Salvatore, Grafman Jordan, Kaye Jeffrey A, Woltjer Randall L, Mesulam Marsel, Bigio Eileen, Lladó Albert, Miller Bruce L, Alzualde Ainhoa, Moreno Fermin, Rohrer Jonathan D, Mackenzie Ian R A, Feldman Howard H, Hamilton Ronald L, Cruts Marc, Engelborghs Sebastiaan, De Deyn Peter P, Van Broeckhoven Christine, Bird Thomas D, Cairns Nigel J, Goate Allison, Frosch Matthew P, Riederer Peter F, Bogdanovic Nenad, Lee Virginia M Y, Trojanowski John Q, Van Deerlin Vivianna |
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TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers.
Neurology 2011 Feb 76 (5): 467-74. Finch N, Carrasquillo M M, Baker M, Rutherford N J, Coppola G, Dejesus-Hernandez M, Crook R, Hunter T, Ghidoni R, Benussi L, Crook J, Finger E, Hantanpaa K J, Karydas A M, Sengdy P, Gonzalez J, Seeley W W, Johnson N, Beach T G, Mesulam M, Forloni G, Kertesz A, Knopman D S, Uitti R, White C L, Caselli R, Lippa C, Bigio E H, Wszolek Z K, Binetti G, Mackenzie I R, Miller B L, Boeve B F, Younkin S G, Dickson D W, Petersen R C, Graff-Radford N R, Geschwind D H, Rademakers |
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rs5848 polymorphism and serum progranulin level.
Journal of the neurological sciences 2011 Jan 300 (1-2): 28-32. Hsiung Ging-Yuek R, Fok Alice, Feldman Howard H, Rademakers Rosa, Mackenzie Ian R |
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Cerebrospinal fluid biomarkers in Progranulin mutations carriers.
Journal of Alzheimer's disease : JAD 2011 27 (4): 781-90. Carecchio Miryam, Fenoglio Chiara, Cortini Francesca, Comi Cristoforo, Benussi Luisa, Ghidoni Roberta, Borroni Barbara, De Riz Milena, Serpente Maria, Cantoni Claudia, Franceschi Massimo, Albertini Valentina, Monaco Francesco, Rainero Innocenzo, Binetti Giuliano, Padovani Alessandro, Bresolin Nereo, Scarpini Elio, Galimberti Danie |
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Genetic background predicts poor prognosis in frontotemporal lobar degeneration.
Neuro-degenerative diseases 2011 8 (5): 289-95. Borroni B, Grassi M, Archetti S, Papetti A, Del Bo R, Bonvicini C, Comi G P, Gennarelli M, Bellelli G, Di Luca M, Padovani |
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rs5848 variant of progranulin gene is a risk of Alzheimer's disease in the Taiwanese population.
Neuro-degenerative diseases 2011 8 (4): 216-20. Lee Ming-Jen, Chen Ta-Fu, Cheng Ting-Wen, Chiu Ming-Ja |
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Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma.
American journal of human genetics 2010 Dec 87 (6): 890-7. Carrasquillo Minerva M, Nicholson Alexandra M, Finch NiCole, Gibbs J Raphael, Baker Matt, Rutherford Nicola J, Hunter Talisha A, DeJesus-Hernandez Mariely, Bisceglio Gina D, Mackenzie Ian R, Singleton Andrew, Cookson Mark R, Crook Julia E, Dillman Allissa, Hernandez Dena, Petersen Ronald C, Graff-Radford Neill R, Younkin Steven G, Rademakers Ro |
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Screening for MAPT and PGRN mutations in Korean patients with PSP/CBS/FTD.
Parkinsonism & related disorders 2010 May 16 (4): 305-6. Kim Han-Joon, Jeon Beom S, Yun Ji Young, Seong Moon-Woo, Park Sung Sup, Lee Jee-You |
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Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.
Nature genetics 2010 Mar 42 (3): 234-9. Van Deerlin Vivianna M, Sleiman Patrick M A, Martinez-Lage Maria, Chen-Plotkin Alice, Wang Li-San, Graff-Radford Neill R, Dickson Dennis W, Rademakers Rosa, Boeve Bradley F, Grossman Murray, Arnold Steven E, Mann David M A, Pickering-Brown Stuart M, Seelaar Harro, Heutink Peter, van Swieten John C, Murrell Jill R, Ghetti Bernardino, Spina Salvatore, Grafman Jordan, Hodges John, Spillantini Maria Grazia, Gilman Sid, Lieberman Andrew P, Kaye Jeffrey A, Woltjer Randall L, Bigio Eileen H, Mesulam Marsel, Al-Sarraj Safa, Troakes Claire, Rosenberg Roger N, White Charles L, Ferrer Isidro, Lladó Albert, Neumann Manuela, Kretzschmar Hans A, Hulette Christine Marie, Welsh-Bohmer Kathleen A, Miller Bruce L, Alzualde Ainhoa, Lopez de Munain Adolfo, McKee Ann C, Gearing Marla, Levey Allan I, Lah James J, Hardy John, Rohrer Jonathan D, Lashley Tammaryn, Mackenzie Ian R A, Feldman Howard H, Hamilton Ronald L, Dekosky Steven T, van der Zee Julie, Kumar-Singh Samir, Van Broeckhoven Christine, Mayeux Richard, Vonsattel Jean Paul G, Troncoso Juan C, Kril Jillian J, Kwok John B J, Halliday Glenda M, Bird Thomas D, Ince Paul G, Shaw Pamela J, Cairns Nigel J, Morris John C, McLean Catriona Ann, DeCarli Charles, Ellis William G, Freeman Stefanie H, Frosch Matthew P, Growdon John H, Perl Daniel P, Sano Mary, Bennett David A, Schneider Julie A, Beach Thomas G, Reiman Eric M, Woodruff Bryan K, Cummings Jeffrey, Vinters Harry V, Miller Carol A, Chui Helena C, Alafuzoff Irina, Hartikainen Päivi, Seilhean Danielle, Galasko Douglas, Masliah Eliezer, Cotman Carl W, Tuñón M Teresa, Martínez M Cristina Caballero, Munoz David G, Carroll Steven L, Marson Daniel, Riederer Peter F, Bogdanovic Nenad, Schellenberg Gerard D, Hakonarson Hakon, Trojanowski John Q, Lee Virginia M |
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Brain progranulin expression in GRN-associated frontotemporal lobar degeneration.
Acta neuropathologica 2010 Jan 119 (1): 111-22. Chen-Plotkin Alice S, Xiao Jiping, Geser Felix, Martinez-Lage Maria, Grossman Murray, Unger Travis, Wood Elisabeth M, Van Deerlin Vivianna M, Trojanowski John Q, Lee Virginia M |
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Common variant in GRN is a genetic risk factor for hippocampal sclerosis in the elderly.
Neuro-degenerative diseases 2010 7 (1-3): 170-4. Dickson Dennis W, Baker Matthew, Rademakers Ro |
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GRN variability contributes to sporadic frontotemporal lobar degeneration.
Journal of Alzheimer's disease : JAD 2010 19 (1): 171-7. Galimberti Daniela, Fenoglio Chiara, Cortini Francesca, Serpente Maria, Venturelli Eliana, Villa Chiara, Clerici Francesca, Marcone Alessandra, Benussi Luisa, Ghidoni Roberta, Gallone Salvatore, Scalabrini Diego, Restelli Ilaria, Martinelli Boneschi Filippo, Cappa Stefano, Binetti Giuliano, Mariani Claudio, Rainero Innocenzo, Giordana Maria Teresa, Bresolin Nereo, Scarpini El |
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Low serum progranulin predicts the presence of mutations: a prospective study.
Journal of Alzheimer's disease : JAD 2010 22 (3): 981-4. Schofield Emma C, Halliday Glenda M, Kwok John, Loy Clement, Double Kay L, Hodges John |
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Frequency of progranulin mutations in a German cohort of 79 frontotemporal dementia patients.
Journal of neurology 2009 Dec 256 (12): 2043-51. Schlachetzki Johannes Carolus Magnus, Schmidtke Klaus, Beckervordersandforth Jan, Borozdin Wiktor, Wilhelm Christian, Hüll Michael, Kohlhase Jürg |
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GRN Variability Contributes to Sporadic Frontotemporal Lobar Degeneration.
Journal of Alzheimer's disease : JAD 2009 Sep . Galimberti D, Fenoglio C, Cortini F, Serpente M, Venturelli E, Villa C, Clerici F, Marcone A, Benussi L, Ghidoni R, Gallone S, Scalabrini D, Restelli I, Boneschi FM, Cappa S, Binetti G, Mariani C, Rainero I, Giordana MT, Bresolin N |
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An association study between granulin gene polymorphisms and Alzheimer's disease in Finnish population.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009 Jul 150B (5): 747-50. Viswanathan Jayashree, Mäkinen Petra, Helisalmi Seppo, Haapasalo Annakaisa, Soininen Hilkka, Hiltunen Mik |
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Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members.
Brain : a journal of neurology 2009 Mar 132 (Pt 3): 583-91. Finch NiCole, Baker Matt, Crook Richard, Swanson Katie, Kuntz Karen, Surtees Rebecca, Bisceglio Gina, Rovelet-Lecrux Anne, Boeve Bradley, Petersen Ronald C, Dickson Dennis W, Younkin Steven G, Deramecourt Vincent, Crook Julia, Graff-Radford Neill R, Rademakers Ro |
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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 |
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