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| The Frequency of Genetic Mutations Associated With Behavioral Variant Frontotemporal Dementia in Chinese Han Patients. Frontiers in aging neuroscience 2021 13 699836. Liu Li, Cui Bo, Chu Min, Cui Yue, Jing Donglai, Li Dan, Xie Kexin, Kong Yu, Xia Tianxinyu, Wang Chaodong, Wu Liyo |
| 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 |
| 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, |
| 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 |
| Frontotemporal lobar degeneration: Study of a clinicopathological cohort. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2018 Dec 58 172-180. Gil María José, Manzano María Sagrario, Cuadrado María Luz, Fernández Cristina, Góméz Elena, Matesanz Carmen, Calero Miguel, Rábano Alber |
| Pain and temperature processing in dementia: a clinical and neuroanatomical analysis. Brain : a journal of neurology 2015 Oct . Fletcher Phillip D, Downey Laura E, Golden Hannah L, Clark Camilla N, Slattery Catherine F, Paterson Ross W, Rohrer Jonathan D, Schott Jonathan M, Rossor Martin N, Warren Jason |
| Temporal Variant Frontotemporal Dementia is Associated with Globular Glial Tauopathy. Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology 2015 Jun 28 (2): 92-7. Clark Camilla N, Lashley Tammaryn, Mahoney Colin J, Warren Jason D, Revesz Tamas, Rohrer Jonathan |
| 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 |
| 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 |
| 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 |
| Investigation of c9orf72 in 4 neurodegenerative disorders. Archives of neurology 2012 Dec 69 (12): 1583-90. Xi Zhengrui, Zinman Lorne, Grinberg Yakov, Moreno Danielle, Sato Christine, Bilbao Juan M, Ghani Mahdi, Hernández Isabel, Ruiz Agustín, Boada Mercè, Morón Francisco J, Lang Anthony E, Marras Connie, Bruni Amalia, Colao Rosanna, Maletta Raffaele G, Puccio Gianfranco, Rainero Innocenzo, Pinessi Lorenzo, Galimberti Daniela, Morrison Karen E, Moorby Catriona, Stockton Joanne D, Masellis Mario, Black Sandra E, Hazrati Lili-Naz, Liang Yan, van Haersma de With Jan, Fornazzari Luis, Villagra Roque, Rojas-Garcia Ricardo, Clarimón Jordi, Mayeux Richard, Robertson Janice, St George-Hyslop Peter, Rogaeva Ekateri |
| Synaptic changes in frontotemporal lobar degeneration: correlation with MAPT haplotype and APOE genotype. Neuropathology and applied neurobiology 2011 Jun 37 (4): 366-80. Connelly S J, Mukaetova-Ladinska E B, Abdul-All Z, Alves da Silva J, Brayne C, Honer W G, Mann D M |
| 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 |
| Mutations in CHMP2B are not a cause of frontotemporal lobar degeneration in Finnish patients. European journal of neurology : the official journal of the European Federation of Neurological Societies 2010 Nov 17 (11): 1393-5. Kaivorinne A-L, Krüger J, Udd B, Majamaa K, Remes A |
| 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 |
| 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 |
| Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration. Neurology 2008 Oct 71 (16): 1235-9. Ghidoni R, Benussi L, Glionna M, Franzoni M, Binetti |
| 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 |
| 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 |
| 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 |
| 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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- Page last updated:Jun 28, 2022
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