Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 61 Records) |
Query Trace: VCP[original query] |
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Three VCP Mutations in Patients with Frontotemporal Dementia. Journal of Alzheimer's disease : JAD 2018 8 65 (4): 1139-1146. Wong Tsz Hang, Pottier Cyril, Hondius David C, Meeter Lieke H H, van Rooij Jeroen G J, Melhem Shami, , van Minkelen Rick, van Duijn Cornelia M, Rozemuller Annemieke J M, Seelaar Harro, Rademakers Rosa, van Swieten John |
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 |
Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control.
Diabetes 2019 Feb 68 (2): 441-456. Pollack Samuela, Igo Robert P, Jensen Richard A, Christiansen Mark, Li Xiaohui, Cheng Ching-Yu, Ng Maggie C Y, Smith Albert V, Rossin Elizabeth J, Segrè Ayellet V, Davoudi Samaneh, Tan Gavin S, Chen Yii-Der Ida, Kuo Jane Z, Dimitrov Latchezar M, Stanwyck Lynn K, Meng Weihua, Hosseini S Mohsen, Imamura Minako, Nousome Darryl, Kim Jihye, Hai Yang, Jia Yucheng, Ahn Jeeyun, Leong Aaron, Shah Kaanan, Park Kyu Hyung, Guo Xiuqing, Ipp Eli, Taylor Kent D, Adler Sharon G, Sedor John R, Freedman Barry I, , Lee I-Te, Sheu Wayne H-H, Kubo Michiaki, Takahashi Atsushi, Hadjadj Samy, Marre Michel, Tregouet David-Alexandre, Mckean-Cowdin Roberta, Varma Rohit, McCarthy Mark I, Groop Leif, Ahlqvist Emma, Lyssenko Valeriya, Agardh Elisabet, Morris Andrew, Doney Alex S F, Colhoun Helen M, Toppila Iiro, Sandholm Niina, Groop Per-Henrik, Maeda Shiro, Hanis Craig L, Penman Alan, Chen Ching J, Hancock Heather, Mitchell Paul, Craig Jamie E, Chew Emily Y, Paterson Andrew D, Grassi Michael A, Palmer Colin, Bowden Donald W, Yaspan Brian L, Siscovick David, Cotch Mary Frances, Wang Jie Jin, Burdon Kathryn P, Wong Tien Y, Klein Barbara E K, Klein Ronald, Rotter Jerome I, Iyengar Sudha K, Price Alkes L, Sobrin Luc |
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 |
Association of a single nucleotide polymorphism in the ubxn6 gene with long-term non-progression phenotype in HIV-positive individuals. Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases 2019 May . Díez-Fuertes F, De La Torre-Tarazona H E, Calonge E, Pernas M, Bermejo M, García-Pérez J, Álvarez A, Capa L, García-García F, Saumoy M, Riera M, Boland-Auge A, López-Galíndez C, Lathrop M, Dopazo J, Sakuntabhai A, Alcamí |
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 |
Mutation and association analyses of dementia-causal genes in Han Chinese patients with early-onset and familial Alzheimer's disease. Journal of psychiatric research 2019 4 113 141-147. Wang Guihong, Zhang Deng-Feng, Jiang Hong-Yan, Fan Yu, Ma Lingyan, Shen Zonglin, Bi Rui, Xu Min, Tan Liwen, Shan Baoci, Yao Yong-Gang, Feng T |
Novel and Recurrent Mutations in a Cohort of Chinese Patients With Young-Onset Amyotrophic Lateral Sclerosis. Frontiers in neuroscience 2019 13 1289. Deng Jianwen, Wu Wei, Xie Zhiying, Gang Qiang, Yu Meng, Liu Jing, Wang Qingqing, Lv He, Zhang Wei, Huang Yining, Wang Tao, Yuan Yun, Hong Daojun, Wang Zhaox |
The association between repeat number in C9orf72 and phenotypic variability in Turkish patients with frontotemporal lobar degeneration. Neurobiology of aging 2019 1 76 216.e1-216.e7. Erzurumluoglu Ebru, Cilingir Oguz, Ozbabalik Adapinar Belgin Demet, Bilgic Basar, Kocagil Sinem, Ozen Hulya, Durak Aras Beyhan, Yenilmez Cinar, Artan Sevilh |
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 |
The NGS technology for the identification of genes associated with the ALS. A systematic review. European journal of clinical investigation 2020 4 50 (5): e13228. Pecoraro Valentina, Mandrioli Jessica, Carone Chiara, Chiò Adriano, Traynor Bryan J, Trenti Tomma |
Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms. Journal of clinical medicine 2020 2 9 (2): . Pensato Viviana, Magri Stefania, Bella Eleonora Dalla, Tannorella Pierpaola, Bersano Enrica, Sorarù Gianni, Gatti Marta, Ticozzi Nicola, Taroni Franco, Lauria Giuseppe, Mariotti Caterina, Gellera Cinz |
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 |
The role of genetics in neurodegenerative dementia: a large cohort study in South China. NPJ genomic medicine 2021 8 6 (1): 69. Jiao Bin, Liu Hui, Guo Lina, Xiao Xuewen, Liao Xinxin, Zhou Yafang, Weng Ling, Zhou Lu, Wang Xin, Jiang Yaling, Yang Qijie, Zhu Yuan, Zhou Lin, Zhang Weiwei, Wang Junling, Yan Xinxiang, Li Jinchen, Tang Beisha, Shen |
A Panel-Based Sequencing Analysis of Patients with Paget's Disease of Bone Suggests Enrichment of Rare Genetic Variation in regulators of NF-?B Signaling and Supports the Importance of the 7q33 Locus. Calcified tissue international 2021 Jun . De Ridder Raphaël, Vandeweyer Geert, Boudin Eveline, Hendrickx Gretl, Huybrechts Yentl, Cremers Tycho Canter, Devogelaer Jean-Pierre, Mortier Geert, Fransen Erik, Van Hul W |
SOD1-related ALS with anticipation in a large family from Martinique. Amyotrophic lateral sclerosis & frontotemporal degeneration 2021 3 22 (7-8): 545-551. Giguet-Valard Anna-Gaelle, Bellance Rémi, Jeannin Séverine, Duclos Sophie, Olive Pascale, Allard-Saint-Albin Oriane, Cazeneuve Cécile, Clot Fabienne, Sophie Pittion-Vouyovitch, Barnetche Thomas, Smith-Ravin Juliette, Goizet Cyr |
Genetics of frontotemporal dementia in China. Amyotrophic lateral sclerosis & frontotemporal degeneration 2021 2 22 (5-6): 321-335. Jiang Yaling, Jiao Bin, Xiao Xuewen, Shen |
Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing. Neurobiology of disease 2021 12 162 105578. Raposo Mafalda, Bettencourt Conceição, Melo Ana Rosa Vieira, Ferreira Ana F, Alonso Isabel, Silva Paulo, Vasconcelos João, Kay Teresa, Saraiva-Pereira Maria Luiza, Costa Marta D, Vilasboas-Campos Daniela, Bettencourt Bruno Filipe, Bruges-Armas Jácome, Houlden Henry, Heutink Peter, Jardim Laura Bannach, Sequeiros Jorge, Maciel Patrícia, Lima Manue |
Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian Insufficiency. The Journal of clinical endocrinology and metabolism 2021 10 107 (3): 685-714. Gorsi Bushra, Hernandez Edgar, Moore Marvin Barry, Moriwaki Mika, Chow Clement Y, Coelho Emily, Taylor Elaine, Lu Claire, Walker Amanda, Touraine Philippe, Nelson Lawrence M, Cooper Amber R, Mardis Elaine R, Rajkovic Aleksander, Yandell Mark, Welt Corrine |
SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed. Brain communications 2021 3 (4): fcab236. Iacoangeli Alfredo, Fogh Isabella, Selvackadunco Sashika, Topp Simon D, Shatunov Aleksey, van Rheenen Wouter, Al-Khleifat Ahmad, Opie-Martin Sarah, Ratti Antonia, Calvo Andrea, , Van Damme Philip, Robberecht Wim, Chio Adriano, Dobson Richard J, Hardiman Orla, Shaw Christopher E, van den Berg Leonard H, Andersen Peter M, Smith Bradley N, Silani Vincenzo, Veldink Jan H, Breen Gerome, Troakes Claire, Al-Chalabi Ammar, Jones Ashley |
Acoustic parameters for the evaluation of voice quality in patients with voice disorders. Annals of palliative medicine 2021 1 10 (1): 130-136. Li Gelin, Hou Qian, Zhang Chi, Jiang Zhen, Gong Shushe |
Behavioral and Cognitive Phenotypes of Patients With Amyotrophic Lateral Sclerosis Carrying SOD1 Variants. Neurology 2022 8 99 (18): e2052-62. Bella Eleonora Dalla, Bersano Enrica, Bruzzone Maria Grazia, Gellera Cinzia, Pensato Viviana, Lauria Giuseppe, Consonni Moni |
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 |
Phenotype of VCP Mutations in Chinese Amyotrophic Lateral Sclerosis Patients. Frontiers in neurology 2022 2 13 790082. Feng Shu-Yan, Lin Han, Che Chun-Hui, Huang Hua-Pin, Liu Chang-Yun, Zou Zhang- |
Semantic and right temporal variant of FTD: Next generation sequencing genetic analysis on a single-center cohort. Frontiers in aging neuroscience 2022 12 14 1085406. Rossi Giacomina, Salvi Erika, Mehmeti Elkadia, Ricci Martina, Villa Cristina, Prioni Sara, Moda Fabio, Di Fede Giuseppe, Tiraboschi Pietro, Redaelli Veronica, Coppola Cinzia, Koch Giacomo, Canu Elisa, Filippi Massimo, Agosta Federica, Giaccone Giorgio, Caroppo Pao |
Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis. NPJ genomic medicine 2022 1 7 (1): 8. Al Khleifat Ahmad, Iacoangeli Alfredo, van Vugt Joke J F A, Bowles Harry, Moisse Matthieu, Zwamborn Ramona A J, van der Spek Rick A A, Shatunov Aleksey, Cooper-Knock Johnathan, Topp Simon, Byrne Ross, Gellera Cinzia, López Victoria, Jones Ashley R, Opie-Martin Sarah, Vural Atay, Campos Yolanda, van Rheenen Wouter, Kenna Brendan, Van Eijk Kristel R, Kenna Kevin, Weber Markus, Smith Bradley, Fogh Isabella, Silani Vincenzo, Morrison Karen E, Dobson Richard, van Es Michael A, McLaughlin Russell L, Vourc'h Patrick, Chio Adriano, Corcia Philippe, de Carvalho Mamede, Gotkine Marc, Panades Monica P, Mora Jesus S, Shaw Pamela J, Landers John E, Glass Jonathan D, Shaw Christopher E, Basak Nazli, Hardiman Orla, Robberecht Wim, Van Damme Philip, van den Berg Leonard H, Veldink Jan H, Al-Chalabi Amm |
Risk factors of amyotrophic lateral sclerosis: a global meta-summary. Frontiers in neuroscience 2023 5 17 1177431. Qing-Qing Duan, Zheng Jiang, Wei-Ming Su, Xiao-Jing Gu, Han Wang, Yang-Fan Cheng, Bei Cao, Xia Gao, Yi Wang, Yong-Ping Ch |
Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy. Neurology. Genetics 2023 1 9 (1): e200037. Shmara Alyaa, Gibbs Liliane, Mahoney Ryan Patrick, Hurth Kyle, Goodwill Vanessa S, Cuber Alicia, Im Regina, Pizzo Donald P, Brown Jerry, Laukaitis Christina, Mahajan Shalini, Kimonis Virgin |
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 |
Valosin-containing-protein pathogenic variant p.R487H in Parkinson's disease. Clinical parkinsonism & related disorders 2024 1 10 100236. Capucine Piat, Owen A Ross, Wolfdieter Springer, Eduardo E Benarroch, J Layne Moore, Emily Lauer, Zhiyv Niu, Rodolfo Savi |
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- Page last updated:Apr 22, 2024
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