Human Genome Epidemiology Literature Finder
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Records 1 - 27 (of 27 Records) |
| Query Trace: Aphasia and GRN[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 |
| A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series. Brain : a journal of neurology 2008 Mar 131 (Pt 3): 706-20. Beck Jonathan, Rohrer Jonathan D, Campbell Tracy, Isaacs Adrian, Morrison Karen E, Goodall Emily F, Warrington Elizabeth K, Stevens John, Revesz Tamas, Holton Janice, Al-Sarraj Safa, King Andrew, Scahill Rachael, Warren Jason D, Fox Nick C, Rossor Martin N, Collinge John, Mead Sim |
| 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 |
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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Mendelian forms of disease and age at onset affect survival in frontotemporal dementia. Amyotrophic lateral sclerosis & frontotemporal degeneration 2017 10 19 (1-2): 87-92. Cosseddu Maura, Benussi Alberto, Gazzina Stefano, Turrone Rosanna, Archetti Silvana, Bonomi Elisa, Biasiotto Giorgio, Zanella Isabella, Ferrari Raffaele, Cotelli Maria S, Alberici Antonella, Padovani Alessandro, Borroni Barba |
| Cerebrospinal fluid soluble TREM2 levels in frontotemporal dementia differ by genetic and pathological subgroup. Alzheimer's research & therapy 2018 8 10 (1): 79. Woollacott Ione O C, Nicholas Jennifer M, Heslegrave Amanda, Heller Carolin, Foiani Martha S, Dick Katrina M, Russell Lucy L, Paterson Ross W, Keshavan Ashvini, Fox Nick C, Warren Jason D, Schott Jonathan M, Zetterberg Henrik, Rohrer Jonathan |
| Thalamic atrophy in frontotemporal dementia - Not just a C9orf72 problem. NeuroImage. Clinical 2018 18 675-681. Bocchetta Martina, Gordon Elizabeth, Cardoso M Jorge, Modat Marc, Ourselin Sebastien, Warren Jason D, Rohrer Jonathan |
| The hippocampal longitudinal axis-relevance for underlying tau and TDP-43 pathology. Neurobiology of aging 2018 6 70 1-9. Lladó Albert, Tort-Merino Adrià, Sánchez-Valle Raquel, Falgàs Neus, Balasa Mircea, Bosch Beatriz, Castellví Magda, Olives Jaume, Antonell Anna, Hornberger Micha |
| 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 |
| 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 |
| 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 |
| Genetic variation in APOE, GRN, and TP53 are phenotype modifiers in frontotemporal dementia. Neurobiology of aging 2020 9 99 99.e15-99.e22. Rosas Irene, Martínez Carmen, Coto Eliecer, Clarimón Jordi, Lleó Alberto, Illán-Gala Ignacio, Dols-Icardo Oriol, Borroni Barbara, Almeida Maria Rosário, van der Zee Julie, Van Broeckhoven Christine, , Bruni Amalia C, Anfossi Maria, Bernardi Livia, Maletta Raffaele, Serpente María, Galimberti Daniela, Scarpini Elio, Rossi Giacomina, Caroppo Paola, Benussi Luisa, Ghidoni Roberta, Binetti Giuliano, Nacmias Benedetta, Sorbi Sandro, Piaceri Irene, Bagnoli Silvia, Antonell Anna, Sánchez-Valle Raquel, De la Casa-Fages Beatriz, Grandas Francisco, Diez-Fairen Mónica, Pastor Pau, Ferrari Raffaele, , Queimaliños-Perez Daniel, Pérez-Oliveira Sergio, Álvarez Victoria, Menéndez-González Manu |
| Primary Progressive Aphasia Associated With GRN Mutations: New Insights Into the Nonamyloid Logopenic Variant. Neurology 2021 May . Saracino Dario, Ferrieux Sophie, Noguès-Lassiaille Marie, Houot Marion, Funkiewiez Aurélie, Sellami Leila, Deramecourt Vincent, Pasquier Florence, Couratier Philippe, Pariente Jérémie, Géraudie Amandine, Epelbaum Stéphane, Wallon David, Hannequin Didier, Martinaud Olivier, Clot Fabienne, Camuzat Agnès, Bottani Simona, Rinaldi Daisy, Auriacombe Sophie, Sarazin Marie, Didic Mira, Boutoleau-Bretonnière Claire, Thauvin-Robinet Christel, Lagarde Julien, Roué-Jagot Carole, Sellal François, Gabelle Audrey, Etcharry-Bouyx Frédérique, Morin Alexandre, Coppola Cinzia, Levy Richard, Dubois Bruno, Brice Alexis, Colliot Olivier, Gorno-Tempini Maria Luisa, Teichmann Marc, Migliaccio Raffaella, Le Ber Isabelle, |
| Whole-Exome Sequencing and C9orf72 Analysis in Primary Progressive Aphasia. Journal of Alzheimer's disease : JAD 2021 2 80 (3): 985-990. Pytel Vanesa, Hernández-Lorenzo Laura, Torre-Fuentes Laura, Sanz Raúl, González Nieves, Cabrera-Martín María Nieves, Delgado-Álvarez Alfonso, Gómez-Pinedo Ulises, Matías-Guiu Jorge, Matias-Guiu Jordi |
| Genetic Spectrum and Clinical Heterogeneity of Chinese Frontotemporal Dementia Patients: Data from PUMCH Dementia Cohort. Journal of Alzheimer's disease : JAD 2022 Aug . Dong Liling, Wang Jie, Liu Caiyan, Li Jie, Mao Chenhui, Huang Xinying, Chu Shanshan, Peng Bin, Cui Liying, Gao Ji |
| Sensitivity of the Social Behavior Observer Checklist to Early Symptoms of Patients With Frontotemporal Dementia. Neurology 2022 5 99 (5): e488-99. Toller Gianina, Cobigo Yann, Ljubenkov Peter A, Appleby Brian S, Dickerson Bradford C, Domoto-Reilly Kimiko, Fong Jamie C, Forsberg Leah K, Gavrilova Ralitza H, Ghoshal Nupur, Heuer Hilary W, Knopman David S, Kornak John, Lapid Maria I, Litvan Irene, Lucente Diane E, Mckenzie Ian R, McGinnis Scott M, Miller Bruce L, Pedraza Otto, Rojas Julio C, Staffaroni Adam M, Wong Bonnie, Wszolek Zbigniew K, Boeve Brad F, Boxer Adam L, Rosen Howard J, Rankin Katherine P, |
| Examining empathy deficits across familial forms of frontotemporal dementia within the GENFI cohort. Cortex; a journal devoted to the study of the nervous system and behavior 2022 3 150 12-28. Foster Phoebe H, Russell Lucy L, Peakman Georgia, Convery Rhian S, Bouzigues Arabella, Greaves Caroline V, Bocchetta Martina, Cash David M, van Swieten John C, Jiskoot Lize C, Moreno Fermin, Sanchez-Valle Raquel, Laforce Robert, Graff Caroline, Masellis Mario, Tartaglia Carmela, Rowe James B, Borroni Barbara, Finger Elizabeth, Synofzik Matthis, Galimberti Daniela, Vandenberghe Rik, de Mendonça Alexandre, Butler Chris R, Gerhard Alex, Ducharme Simon, Le Ber Isabelle, Tagliavini Fabrizio, Santana Isabel, Pasquier Florence, Levin Johannes, Danek Adrian, Otto Markus, Sorbi Sandro, Rohrer Jonathan D, |
| Language impairment in the genetic forms of behavioural variant frontotemporal dementia. Journal of neurology 2022 12 . Samra Kiran, MacDougall Amy M, Bouzigues Arabella, Bocchetta Martina, Cash David M, Greaves Caroline V, Convery Rhian S, van Swieten John C, Seelaar Harro, Jiskoot Lize, Moreno Fermin, Sanchez-Valle Raquel, Laforce Robert, Graff Caroline, Masellis Mario, Tartaglia Maria Carmela, Rowe James B, Borroni Barbara, Finger Elizabeth, Synofzik Matthis, Galimberti Daniela, Vandenberghe Rik, de Mendonça Alexandre, Butler Christopher R, Gerhard Alexander, Ducharme Simon, Le Ber Isabelle, Tiraboschi Pietro, Santana Isabel, Pasquier Florence, Levin Johannes, Otto Markus, Sorbi Sandro, Rohrer Jonathan D, Russell Lucy L, |
| Prodromal language impairment in genetic frontotemporal dementia within the GENFI cohort. Journal of the neurological sciences 2023 6 451 120711. Kiran Samra, Amy M MacDougall, Arabella Bouzigues, Martina Bocchetta, David M Cash, Caroline V Greaves, Rhian S Convery, John C van Swieten, Lize Jiskoot, Harro Seelaar, Fermin Moreno, Raquel Sanchez-Valle, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Barbara Borroni, Elizabeth Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonça, Chris R Butler, Alex Gerhard, Simon Ducharme, Isabelle Le Ber, Pietro Tiraboschi, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Jonathan D Rohrer, Lucy L Russell, |
| C9orf72 expansions are the most common cause of genetic frontotemporal dementia in a Southeast Asian cohort. Annals of clinical and translational neurology 2023 2 . Tan Yi Jayne, Yong Alisa C W, Foo Jia Nee, Lian Michelle M, Lim Weng Khong, Dominguez Jacqueline, Fong Zhi Hui, Narasimhalu Kaavya, Chiew Hui Jin, Ng Kok Pin, Ting Simon K S, Kandiah Nagaendran, Ng Adeline S |
| An autopsy case of type A FTLD-TDP with a GRN mutation presenting with the logopenic variant of primary progressive aphasia at onset and with corticobasal syndrome subsequently. Neuropathology : official journal of the Japanese Society of Neuropathology 2024 5 . Takafumi Tomenaga, Shinobu Minatani, Hiroto Namba, Akitoshi Takeda, Takahito Yoshizaki, Joji Kawabe, Nazere Keyoumu, Hiroyuki Morino, Makoto Higuchi, Tomoyasu Matsubara, Hiroyuki Hatsuta, Masato Hasegawa, Shigeo Murayama, Yoshiaki It |
| GRN mutation spectrum and genotype-phenotype correlation in Chinese dementia patients: data from PUMCH dementia cohort. Journal of medical genetics 2024 1 . Caiyan Liu, Liling Dong, Jie Wang, Jie Li, Xinying Huang, Dan Lei, Chenhui Mao, Shanshan Chu, Longze Sha, Qi Xu, Bin Peng, Liying Cui, Jing G |
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