Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 31 Records) |
Query Trace: Sclerosis and VCP[original query] |
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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 |
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, |
Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis. Neurobiology of aging 2011 Dec . Williams KL, Solski JA, Nicholson GA, Blair IP |
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 |
Screening of VCP mutations in Chinese amyotrophic lateral sclerosis patients. Neurobiology of aging 2013 May 34 (5): 1519.e3-4. Zou Zhang-Yu, Liu Ming-Sheng, Li Xiao-Guang, Cui Li-Yi |
Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system. Neurobiology of aging 2014 Dec 35 (12): 2881.e11-5. Liu Zhi-Jun, Li Hong-Fu, Tan Guo-He, Tao Qing-Qing, Ni Wang, Cheng Xue-Wen, Xiong Zhi-Qi, Wu Zhi-Yi |
Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis. Neurobiology of aging 2014 Oct 35 (10): 2423.e1-6. Soong Bing-Wen, Lin Kon-Ping, Guo Yuh-Cherng, Lin Chou-Ching K, Tsai Pei-Chien, Liao Yi-Chu, Lu Yi-Chun, Wang Shuu-Jiun, Tsai Ching-Piao, Lee Yi-Chu |
Mutational analysis of MATR3 in Taiwanese patients with amyotrophic lateral sclerosis. Neurobiology of aging 2015 May 36 (5): 2005.e1-4. Lin Kon-Ping, Tsai Pei-Chien, Liao Yi-Chu, Chen Wei-Ting, Tsai Ching-Piao, Soong Bing-Wen, Lee Yi-Chu |
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, |
VCP mutations are not a major cause of familial amyotrophic lateral sclerosis in the UK. Journal of the neurological sciences 2015 Feb 349 (1-2): 209-13. Kwok Chun Tak, Wang Hsiang-Ya, Morris Alex G, Smith Bradley, Shaw Christopher, de Belleroche Jack |
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 |
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 |
Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation. Journal of neurology, neurosurgery, and psychiatry 2017 9 89 (2): 162-168. Dols-Icardo Oriol, García-Redondo Alberto, Rojas-García Ricardo, Borrego-Hernández Daniel, Illán-Gala Ignacio, Muñoz-Blanco José Luís, Rábano Alberto, Cervera-Carles Laura, Juárez-Rufián Alexandra, Spataro Nino, De Luna Noemí, Galán Lucía, Cortes-Vicente Elena, Fortea Juan, Blesa Rafael, Grau-Rivera Oriol, Lleó Alberto, Esteban-Pérez Jesús, Gelpi Ellen, Clarimón Jor |
Time Course of Radiological Imaging and Variable Interindividual Symptoms in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Associated with p.Arg487His Mutation in the VCP Gene. European neurology 2017 7 78 (1-2): 78-83. Hirano Makito, Yamagishi Yuko, Yanagimoto Satoshi, Saigoh Kazumasa, Nakamura Yusaku, Kusunoki Susu |
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK. Brain : a journal of neurology 2017 Jun 140 (6): 1611-1618. Morgan Sarah, Shatunov Aleksey, Sproviero William, Jones Ashley R, Shoai Maryam, Hughes Deborah, Al Khleifat Ahmad, Malaspina Andrea, Morrison Karen E, Shaw Pamela J, Shaw Christopher E, Sidle Katie, Orrell Richard W, Fratta Pietro, Hardy John, Pittman Alan, Al-Chalabi Amm |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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- |
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 |
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- Page last updated:Apr 22, 2024
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