Human Genome Epidemiology Literature Finder
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Records 1 - 27 (of 27 Records) |
| Query Trace: Neurodegenerative Diseases 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 |
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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort. Frontiers in genetics 2019 10 732. Tripolszki Kornélia, Gampawar Piyush, Schmidt Helena, Nagy Zsófia F, Nagy Dóra, Klivényi Péter, Engelhardt József I, Széll Már |
| Genetic analyses of early-onset Alzheimer's disease using next generation sequencing. Scientific reports 2019 6 9 (1): 8368. Giau Vo Van, Bagyinszky Eva, Yang Young Soon, Youn Young Chul, An Seong Soo A, Kim Sang Y |
| 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 |
| The Rise of the GRN C157KfsX97 Mutation in Southern Italy: Going Back to the Fall of the Western Roman Empire. Journal of Alzheimer's disease : JAD 2020 10 78 (1): 387-394. Coppola Cinzia, Saracino Dario, Oliva Mariano, Puoti Gianfranco, Lus Giacomo, Le Ber Isabelle, Pariente Jérémie, Tessitore Alessandro, Benussi Luisa, Ghidoni Roberta, Carrara Matteo, Ricci Martina, Redaelli Veronica, Tiraboschi Pietro, Caroppo Paola, Giaccone Giorgio, Bonavita Simona, Rossi Giacomi |
| 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 |
| Cancer in Parkinson's Disease: An Approximation to the Main Risk Factors. Neuro-degenerative diseases 2021 Oct . Rosas Irene, Morís Germán, Coto Eliecer, Blázquez Marta, Suárez Esther, García-Fernández Ciara, Siso Pablo, Martínez Carmen, Pérez-Oliveira Sergio, Álvarez Victoria, Menéndez-González Manu |
| Genetic landscape of early-onset dementia in Hungary. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022 Jun . Csaban Dora, Illes Anett, Renata Toth-Bencsik, Balicza Peter, Pentelenyi Klara, Molnar Viktor, Gezsi Andras, Grosz Zoltan, Gal Aniko, Kovacs Tibor, Klivenyi Peter, Molnar Maria Jud |
| The PINK1 p.Asn521Thr Variant Is Associated with Earlier Disease Onset in GRN/C9orf72 Frontotemporal Lobar Degeneration. International journal of molecular sciences 2022 11 23 (21): . Rossi Giacomina, Salvi Erika, Benussi Luisa, Mehmeti Elkadia, Geviti Andrea, Bellini Sonia, Longobardi Antonio, Facconi Alessandro, Carrara Matteo, Bonvicini Cristian, Nicsanu Roland, Saraceno Claudia, Ricci Martina, Giaccone Giorgio, Binetti Giuliano, Ghidoni Rober |
| Serum progranulin is not associated with rs5848 polymorphism in Korean patients with neurodegenerative diseases. PloS one 0 17 (1): e0261007. Jung Na-Yeon, Kim Hyang-Sook, Kim Eun Soo, Jeon Sumin, Lee Myung Jun, Pak Kyoungjune, Lee Jae-Hyeok, Lee Young Min, Lee Kangyoon, Shin Jin-Hong, Ko Jun Kyeung, Lee Jae Meen, Yoon Jin A, Hwang Chungsu, Choi Kyung-Un, Huh Gi Yeong, Kim Young-Eun, Kim Eun-J |
| C-terminal TMEM106B fragments in human brain correlate with disease-associated TMEM106B haplotypes. Brain : a journal of neurology 2023 4 . Cristina T Vicente, Jolien Perneel, Sarah Wynants, Bavo Heeman, Marleen Van den Broeck, Matt Baker, Simon Cheung, Júlia Faura, Ian R A Mackenzie, Rosa Rademake |
| Long Non-Coding RNA Profile in Genetic Symptomatic and Presymptomatic Frontotemporal Dementia: A GENFI Study. Journal of Alzheimer's disease : JAD 2024 8 . Maria Serpente, Chiara Fenoglio, Marina Arcaro, Tiziana Carandini, Luca Sacchi, Manuela Pintus, Emanuela Rotondo, Vittoria Borracci, Laura Ghezzi, Arabella Bouzigues, Lucy L Russell, Phoebe H Foster, Eve Ferry-Bolder, John C van Swieten, Lize C Jiskoot, Harro Seelaar, Raquel Sánchez Valle, Robert Laforce, Caroline Graff, Rik Vandenberghe, Alexandre de Mendonça, Pietro Tiraboschi, Isabel Santana, Alexander Gerhard, Johannes Levin, Sandro Sorbi, Markus Otto, Florence Pasquier, Simon Ducharme, Chris R Butler, Isabelle Le Ber, Elizabeth Finger, Maria Carmela Tartaglia, Mario Masellis, James B Rowe, Matthis Synofzik, Fermin Moreno, Barbara Borroni, Jonathan D Rohrer, Andrea Arighi, Daniela Galimberti, |
| Mutational Landscape of Alzheimer's Disease and Frontotemporal Dementia: Regional Variances in Northern, Central, and Southern Italy. International journal of molecular sciences 2024 7 25 (13): . Claudia Saraceno, Lorenzo Pagano, Valentina Laganà, Andrea Geviti, Silvia Bagnoli, Assunta Ingannato, Salvatore Mazzeo, Antonio Longobardi, Silvia Fostinelli, Sonia Bellini, Alberto Montesanto, Giuliano Binetti, Raffaele Maletta, Benedetta Nacmias, Roberta Ghido |
| Gene specific effects on brain volume and cognition of TMEM106B in frontotemporal lobar degeneration. medRxiv : the preprint server for health sciences 2024 4 . Marijne Vandebergh, Eliana Marisa Ramos, Nick Corriveau-Lecavalier, Vijay K Ramanan, John Kornak, Carly Mester, Tyler Kolander, Danielle Brushaber, Adam M Staffaroni, Daniel Geschwind, Amy Wolf, Kejal Kantarci, Tania F Gendron, Leonard Petrucelli, Marleen Van den Broeck, Sarah Wynants, Matthew C Baker, Sergi Borrego-Écija, Brian Appleby, Sami Barmada, Andrea Bozoki, David Clark, R Ryan Darby, Bradford C Dickerson, Kimiko Domoto-Reilly, Julie A Fields, Douglas R Galasko, Nupur Ghoshal, Neill Graff-Radford, Ian M Grant, Lawrence S Honig, Ging-Yuek Robin Hsiung, Edward D Huey, David Irwin, David S Knopman, Justin Y Kwan, Gabriel C Léger, Irene Litvan, Joseph C Masdeu, Mario F Mendez, Chiadi Onyike, Belen Pascual, Peter Pressman, Aaron Ritter, Erik D Roberson, Allison Snyder, Anna Campbell Sullivan, M Carmela Tartaglia, Dylan Wint, Hilary W Heuer, Leah K Forsberg, Adam L Boxer, Howard J Rosen, Bradley F Boeve, Rosa Rademake |
| 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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