HuGE Literature Finder
Records 1-30
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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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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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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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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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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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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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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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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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Posterior cortical atrophy as a primary clinical phenotype of corticobasal syndrome with a progranulin gene rs5848 TT genotype.
Orphanet journal of rare diseases 2016 11 (1): 13. Peng Guoping, Liu Ping, He Fangping, Luo Beny |
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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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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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Association analysis of the GRN ?rs5848 and MAPT rs242557 polymorphisms in Parkinson's disease and multiple system atrophy: a large-scale population-based study and meta-analysis.
The International journal of neuroscience 2015 Sep 1-8. Chen YongPing, Cao Bei, Ou RuWei, Chen XuePing, Zhao Bi, Wei QianQian, Wu Ying, Shang Hui-Fa |
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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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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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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 is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions.
Acta neuropathologica 2014 Mar 127 (3): 407-18. Gallagher Michael D, Suh Eunran, Grossman Murray, Elman Lauren, McCluskey Leo, Van Swieten John C, Al-Sarraj Safa, Neumann Manuela, Gelpi Ellen, Ghetti Bernardino, Rohrer Jonathan D, Halliday Glenda, Van Broeckhoven Christine, Seilhean Danielle, Shaw Pamela J, Frosch Matthew P, Alafuzoff Irina, Antonell Anna, Bogdanovic Nenad, Brooks William, Cairns Nigel J, Cooper-Knock Johnathan, Cotman Carl, Cras Patrick, Cruts Marc, De Deyn Peter P, DeCarli Charles, Dobson-Stone Carol, Engelborghs Sebastiaan, Fox Nick, Galasko Douglas, Gearing Marla, Gijselinck Ilse, Grafman Jordan, Hartikainen Päivi, Hatanpaa Kimmo J, Highley J Robin, Hodges John, Hulette Christine, Ince Paul G, Jin Lee-Way, Kirby Janine, Kofler Julia, Kril Jillian, Kwok John B J, Levey Allan, Lieberman Andrew, Llado Albert, Martin Jean-Jacques, Masliah Eliezer, McDermott Christopher J, McKee Ann, McLean Catriona, Mead Simon, Miller Carol A, Miller Josh, Munoz David G, Murrell Jill, Paulson Henry, Piguet Olivier, Rossor Martin, Sanchez-Valle Raquel, Sano Mary, Schneider Julie, Silbert Lisa C, Spina Salvatore, van der Zee Julie, Van Langenhove Tim, Warren Jason, Wharton Stephen B, White Charles L, Woltjer Randall L, Trojanowski John Q, Lee Virginia M Y, Van Deerlin Vivianna, Chen-Plotkin Alice |
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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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Reduced serum progranulin level might be associated with Parkinson's disease risk.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2013 Dec 20 (12): 1571-3. Mateo I, González-Aramburu I, Pozueta A, Vázquez-Higuera J L, Rodríguez-Rodríguez E, Sánchez-Juan P, Calero M, Dobato J L, Infante J, Berciano J, Combarros |
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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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C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.
Neurology 2013 Oct 81 (15): 1332-41. van Blitterswijk Marka, Baker Matthew C, DeJesus-Hernandez Mariely, Ghidoni Roberta, Benussi Luisa, Finger Elizabeth, Hsiung Ging-Yuek R, Kelley Brendan J, Murray Melissa E, Rutherford Nicola J, Brown Patricia E, Ravenscroft Thomas, Mullen Bianca, Ash Peter E A, Bieniek Kevin F, Hatanpaa Kimmo J, Karydas Anna, Wood Elisabeth McCarty, Coppola Giovanni, Bigio Eileen H, Lippa Carol, Strong Michael J, Beach Thomas G, Knopman David S, Huey Edward D, Mesulam Marsel, Bird Thomas, White Charles L, Kertesz Andrew, Geschwind Dan H, Van Deerlin Vivianna M, Petersen Ronald C, Binetti Giuliano, Miller Bruce L, Petrucelli Leonard, Wszolek Zbigniew K, Boylan Kevin B, Graff-Radford Neill R, Mackenzie Ian R, Boeve Bradley F, Dickson Dennis W, Rademakers Ro |
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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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Association between GRN rs5848 Polymorphism and Parkinson's Disease in Taiwanese Population.
PloS one 2013 8 (1): 1. Chang KH, Chen CM, Chen YC, Hsiao YC, Huang CC, Kuo HC, Hsu HC, Lee-Chen GJ, Wu YR |
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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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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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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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Optimal Plasma Progranulin Cutoff Value for Predicting Null Progranulin Mutations in Neurodegenerative Diseases: A Multicenter Italian Study.
Neuro-degenerative diseases 2011 Nov . Ghidoni R, Stoppani E, Rossi G, Piccoli E, Albertini V, Paterlini A, Glionna M, Pegoiani E, Agnati LF, Fenoglio C, Scarpini E, Galimberti D, Morbin M, Tagliavini F, Binetti G, Benussi L |
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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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No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohort.
Neurobiology of aging 2011 Jun 32 (6): 1157-8. Del Bo Roberto, Corti Stefania, Santoro Domenico, Ghione Isabella, Fenoglio Chiara, Ghezzi Serena, Ranieri Michela, Galimberti Daniela, Mancuso Michelangelo, Siciliano Gabriele, Briani Chiara, Murri Luigi, Scarpini Elio, Schymick Jennifer C, Traynor Bryan J, Bresolin Nereo, Comi Giacomo |
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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 |
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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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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GRN 3'UTR+78 C>T is not associated with risk for Parkinson's disease.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2009 Aug 16 (8): 909-11. Jasinska-Myga B, Wider C, Opala G, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Baker M, Rademakers R, Uitti R J, Farrer M J, Ross O A, Wszolek Z |
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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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Low prevalence of progranulin mutations in Finnish patients with frontotemporal lobar degeneration.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2009 Jan 16 (1): 27-30. Krüger J, Kaivorinne A-L, Udd B, Majamaa K, Remes A |
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No evidence of PGRN or MAPT gene dosage alterations in a collection of patients with frontotemporal lobar degeneration.
Dementia and geriatric cognitive disorders 2009 28 (5): 471-5. Skoglund Lena, Ingvast Sofie, Matsui Toshifumi, Freeman Stefanie H, Frosch Matthew P, Brundin Rosemarie, Giedraitis Vilmantas, Growdon John H, Hyman Bradley T, Lannfelt Lars, Ingelsson Martin, Glaser An |
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Rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer's disease.
Journal of Alzheimer's disease : JAD 2009 18 (3): 603-12. Fenoglio Chiara, Galimberti Daniela, Cortini Francesca, Kauwe John S K, Cruchaga Carlos, Venturelli Eliana, Villa Chiara, Serpente Maria, Scalabrini Diego, Mayo Kevin, Piccio Laura M, Clerici Francesca, Albani Diego, Mariani Claudio, Forloni Gianluigi, Bresolin Nereo, Goate Alison M, Scarpini El |
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Variation at GRN 3'-UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population.
PloS one 2009 4 (10): e7494. Simón-Sánchez Javier, Seelaar Harro, Bochdanovits Zoltán, Deeg Dorly J H, van Swieten John C, Heutink Pet |
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Novel exon 1 progranulin gene variant in Alzheimer's disease.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2008 Oct 15 (10): 1111-7. Cortini F, Fenoglio C, Guidi I, Venturelli E, Pomati S, Marcone A, Scalabrini D, Villa C, Clerici F, Dalla Valle E, Mariani C, Cappa S, Bresolin N, Scarpini E, Galimberti |
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Progranulin variability has no major role in Parkinson disease genetic etiology.
Neurology 2008 Oct 71 (15): 1147-51. Nuytemans K, Pals P, Sleegers K, Engelborghs S, Corsmit E, Peeters K, Pickut B, Mattheijssens M, Cras P, De Deyn P P, Theuns J, Van Broeckhoven |
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Genetic studies of GRN and IFT74 in amyotrophic lateral sclerosis.
Neurobiology of aging 2008 Aug 29 (8): 1279-82. Xiao Shangxi, Sato Christine, Kawarai Toshitaka, Goodall Emily F, Pall Hardev S, Zinman Lorne H, Robertson Janice, Morrison Karen, Rogaeva Ekateri |
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Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease.
Neurology 2008 Aug 71 (9): 656-64. Brouwers N, Sleegers K, Engelborghs S, Maurer-Stroh S, Gijselinck I, van der Zee J, Pickut B A, Van den Broeck M, Mattheijssens M, Peeters K, Schymkowitz J, Rousseau F, Martin J-J, Cruts M, De Deyn P P, Van Broeckhoven |
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Progranulin genetic variability contributes to amyotrophic lateral sclerosis.
Neurology 2008 Jul 71 (4): 253-9. Sleegers K, Brouwers N, Maurer-Stroh S, van Es M A, Van Damme P, van Vught P W J, van der Zee J, Serneels S, De Pooter T, Van den Broeck M, Cruts M, Schymkowitz J, De Jonghe P, Rousseau F, van den Berg L H, Robberecht W, Van Broeckhoven |
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Gene expression study on peripheral blood identifies progranulin mutations.
Annals of neurology 2008 Jun . Coppola G, Karydas A, Rademakers R, Wang Q, Baker M, Hutton M, Miller BL, Geschwind DH |
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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 |
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Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland.
BMC neurology 2008 8 48. Kaivorinne Anna-Lotta, Krüger Johanna, Kuivaniemi Katja, Tuominen Hannu, Moilanen Virpi, Majamaa Kari, Remes Anne |
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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 |
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Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes.
Journal of neurology, neurosurgery, and psychiatry 2007 Jul 78 (7): 754-6. Schymick J C, Yang Y, Andersen P M, Vonsattel J P, Greenway M, Momeni P, Elder J, Chiò A, Restagno G, Robberecht W, Dahlberg C, Mukherjee O, Goate A, Graff-Radford N, Caselli R J, Hutton M, Gass J, Cannon A, Rademakers R, Singleton A B, Hardiman O, Rothstein J, Hardy J, Traynor B |
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Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.
Human molecular genetics 2006 Oct 15 (20): 2988-3001. Gass Jennifer, Cannon Ashley, Mackenzie Ian R, Boeve Bradley, Baker Matt, Adamson Jennifer, Crook Richard, Melquist Stacey, Kuntz Karen, Petersen Ron, Josephs Keith, Pickering-Brown Stuart M, Graff-Radford Neill, Uitti Ryan, Dickson Dennis, Wszolek Zbigniew, Gonzalez John, Beach Thomas G, Bigio Eileen, Johnson Nancy, Weintraub Sandra, Mesulam Marsel, White Charles L, Woodruff Bryan, Caselli Richard, Hsiung Ging-Yuek, Feldman Howard, Knopman Dave, Hutton Mike, Rademakers Ro |
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Hippocampal sclerosis in the elderly: genetic and pathologic findings, some mimicking Alzheimer disease clinically.
Alzheimer disease and associated disorders 0 25 (4): 364-8. Pao Winnie C, Dickson Dennis W, Crook Julia E, Finch NiCole A, Rademakers Rosa, Graff-Radford Neill |
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