HuGE Literature Finder
Records 1-17
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Screening of dementia genes by whole-exome sequencing in Spanish patients with early-onset dementia: likely pathogenic, uncertain significance and risk variants.
Neurobiology of aging 2020 Feb . Ramos-Campoy Oscar, Antonell Anna, Falgàs Neus, Balasa Mircea, Borrego-Écija Sergi, Rodríguez-Santiago Benjamín, Datta Debayan, Armengol Lluís, Fernández-Villullas Guadalupe, Bosch Beatriz, Olives Jaume, Muñoz-García Cristina, Castellví Magdalena, Tort-Merino Adrià, Sánchez-Valle Raquel, Lladó Albe |
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Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.
Alzheimer's & dementia : the journal of the Alzheimer's Association 2020 Jan 16 (1): 118-130. Ramos Eliana Marisa, Dokuru Deepika Reddy, Van Berlo Victoria, Wojta Kevin, Wang Qing, Huang Alden Y, Deverasetty Sandeep, Qin Yue, van Blitterswijk Marka, Jackson Jazmyne, Appleby Brian, Bordelon Yvette, Brannelly Patrick, Brushaber Danielle E, Dickerson Bradford, Dickinson Susan, Domoto-Reilly Kimiko, Faber Kelley, Fields Julie, Fong Jamie, Foroud Tatiana, Forsberg Leah K, Gavrilova Ralitza, Ghoshal Nupur, Goldman Jill, Graff-Radford Jonathan, Graff-Radford Neill, Grant Ian, Grossman Murray, Heuer Hilary W, Hsiung Ging-Yuek R, Huey Edward, Irwin David, Kantarci Kejal, Karydas Anna, Kaufer Daniel, Kerwin Diana, Knopman David, Kornak John, Kramer Joel H, Kremers Walter, Kukull Walter, Litvan Irene, Ljubenkov Peter, Lungu Codrin, Mackenzie Ian, Mendez Mario F, Miller Bruce L, Onyike Chiadi, Pantelyat Alexander, Pearlman Rodney, Petrucelli Len, Potter Madeline, Rankin Katherine P, Rascovsky Katya, Roberson Erik D, Rogalski Emily, Shaw Leslie, Syrjanen Jeremy, Tartaglia Maria Carmela, Tatton Nadine, Taylor Joanne, Toga Arthur, Trojanowski John Q, Weintraub Sandra, Wong Bonnie, Wszolek Zbigniew, Rademakers Rosa, Boeve Brad F, Rosen Howard J, Boxer Adam L, , Coppola Giovan |
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C9ORF72 hexanucleotide repeat expansion frequency in patients with Paget's disease of bone.
Neurobiology of aging 2019 Aug . Rubino Elisa, Di Stefano Marco, Galimberti Daniela, Serpente Maria, Scarpini Elio, Fenoglio Chiara, Bo Mario, Rainero Innocen |
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Mutation Analysis of the Genes Linked to Early Onset Alzheimer's Disease and Frontotemporal Lobar Degeneration.
Journal of Alzheimer's disease : JAD 2019 May . Luukkainen Laura, Helisalmi Seppo, Kytövuori Laura, Ahmasalo Riitta, Solje Eino, Haapasalo Annakaisa, Hiltunen Mikko, Remes Anne M, Krüger Johan |
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Next Generation Sequencing Analysis in Early Onset Dementia Patients.
Journal of Alzheimer's disease : JAD 2019 67 (1): 243-256. Bonvicini Cristian, Scassellati Catia, Benussi Luisa, Di Maria Emilio, Maj Carlo, Ciani Miriam, Fostinelli Silvia, Mega Anna, Bocchetta Martina, Lanzi Gaetana, Giacopuzzi Edoardo, Ferraboli Sergio, Pievani Michela, Fedi Virginia, Defanti Carlo Alberto, Giliani Silvia, , Frisoni Giovanni Battista, Ghidoni Roberta, Gennarelli Massi |
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Investigating CCNF mutations in a Taiwanese cohort with amyotrophic lateral sclerosis.
Neurobiology of aging 2017 Oct . Tsai Pei-Chien, Liao Yi-Chu, Chen Po-Lin, Guo Yuh-Cherng, Chen Ying-Hao, Jih Kang-Yang, Lin Kon-Ping, Soong Bing-Wen, Tsai Ching-Paio, Lee Yi-Chu |
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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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Mutational analysis of TBK1 in Taiwanese patients with amyotrophic lateral sclerosis.
Neurobiology of aging 2016 Apr 40 191.e11-191.e16. Tsai Pei-Chien, Liu Yi-Chien, Lin Kon-Ping, Liu Yo-Tsen, Liao Yi-Chu, Hsiao Cheng-Tsung, Soong Bing-Wen, Yip Ping-Keung, Lee Yi-Chu |
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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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Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis.
Neuromuscular disorders : NMD 2015 Apr 25 (4): 289-96. Weihl Conrad C, Baloh Robert H, Lee Youjin, Chou Tsui-Fen, Pittman Sara K, Lopate Glenn, Allred Peggy, Jockel-Balsarotti Jennifer, Pestronk Alan, Harms Matthew |
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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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Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis.
Neurology 2012 Nov . González-Pérez P, Cirulli ET, Drory VE, Dabby R, Nisipeanu P, Carasso RL, Sadeh M, Fox A, Festoff BW, Sapp PC, McKenna-Yasek D, Goldstein DB, Brown RH, Blumen SC |
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Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis.
Neurobiology of aging 2012 Mar 33 (3): 630.e1-2. Tiloca Cinzia, Ratti Antonia, Pensato Viviana, Castucci Alessia, Sorarù Gianni, Del Bo Roberto, Corrado Lucia, Cereda Cristina, D'Ascenzo Carla, Comi Giacomo P, Mazzini Letizia, Castellotti Barbara, Ticozzi Nicola, Gellera Cinzia, Silani Vincenzo, |
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Mutational analysis of the VCP gene in Parkinson's disease.
Neurobiology of aging 2012 Jan 33 (1): 209.e1-2. Majounie Elisa, Traynor Bryan J, Chiò Adriano, Restagno Gabriella, Mandrioli Jessica, Benatar Michael, Taylor J Paul, Singleton Andrew |
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Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis.
Neurobiology of aging 2011 Dec . Williams KL, Solski JA, Nicholson GA, Blair IP |
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Exome sequencing reveals VCP mutations as a cause of familial ALS.
Neuron 2010 Dec 68 (5): 857-64. Johnson Janel O, Mandrioli Jessica, Benatar Michael, Abramzon Yevgeniya, Van Deerlin Vivianna M, Trojanowski John Q, Gibbs J Raphael, Brunetti Maura, Gronka Susan, Wuu Joanne, Ding Jinhui, McCluskey Leo, Martinez-Lage Maria, Falcone Dana, Hernandez Dena G, Arepalli Sampath, Chong Sean, Schymick Jennifer C, Rothstein Jeffrey, Landi Francesco, Wang Yong-Dong, Calvo Andrea, Mora Gabriele, Sabatelli Mario, Monsurrò Maria Rosaria, Battistini Stefania, Salvi Fabrizio, Spataro Rossella, Sola Patrizia, Borghero Giuseppe, , Galassi Giuliana, Scholz Sonja W, Taylor J Paul, Restagno Gabriella, Chiò Adriano, Traynor Bryan |
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No association of common VCP variants with sporadic frontotemporal dementia.
Neurobiology of aging 2009 Feb 30 (2): 333-5. Schumacher Axel, Friedrich Patricia, Diehl Janine, Ibach Bernd, Schoepfer-Wendels Andreas, Mueller Jakob C, Konta Lidija, Laws Simon M, Kurz Alexander, Foerstl Hans, Riemenschneider Matthi |
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- Page last updated:Sep 16, 2021
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