Human Genome Epidemiology Literature Finder
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Records 1 - 25 (of 25 Records) |
| Query Trace: Disease and KIF5A[original query] |
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| The role of hereditary spastic paraplegia related genes in multiple sclerosis. A study of disease susceptibility and clinical outcome. Journal of neurology 2007 Sep 254 (9): 1221-6. DeLuca G C, Ramagopalan S V, Cader M Z, Dyment D A, Herrera B M, Orton S, Degenhardt A, Pugliatti M, Sadovnick A D, Sotgiu S, Ebers G |
| Analysis of 17 autoimmune disease-associated variants in type 1 diabetes identifies 6q23/TNFAIP3 as a susceptibility locus. Genes and immunity 2009 Mar 10 (2): 188-91. Fung E Y M G, Smyth D J, Howson J M M, Cooper J D, Walker N M, Stevens H, Wicker L S, Todd J |
| Overlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritis. Annals of the rheumatic diseases 2010 Jun 69 (6): 1049-53. Hinks Anne, Eyre Steve, Ke Xiayi, Barton Anne, Martin Paul, Flynn Edward, Packham Jon, , , , Worthington Jane, Thomson Wen |
| The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis. Genes and immunity 2010 Jul 11 (5): 439-45. Alcina A, Vandenbroeck K, Otaegui D, Saiz A, Gonzalez J R, Fernandez O, Cavanillas M L, Cénit M C, Arroyo R, Alloza I, García-Barcina M, Antigüedad A, Leyva L, Izquierdo G, Lucas M, Fedetz M, Pinto-Medel M J, Olascoaga J, Blanco Y, Comabella M, Montalban X, Urcelay E, Matesanz |
| Investigation of potential non-HLA rheumatoid arthritis susceptibility loci in a European cohort increases the evidence for nine markers. Annals of the rheumatic diseases 2010 Aug 69 (8): 1548-53. Plant Darren, Flynn Edward, Mbarek Hamdi, Dieudé Philippe, Cornelis François, Arlestig Lisbeth, Dahlqvist Solbritt Rantapää, Goulielmos George, Boumpas Dimitrios T, Sidiropoulos Prodromos, Johansen Julia S, Ørnbjerg Lykke M, Hetland Merete Lund, Klareskog Lars, Filer Andrew, Buckley Christopher D, Raza Karim, Witte Torsten, Schmidt Reinhold E, Worthington Ja |
| Association of variants in MMEL1 and CTLA4 with rheumatoid arthritis in the Han Chinese population. Annals of the rheumatic diseases 2011 Oct 70 (10): 1793-7. Danoy Patrick, Wei Meng, Johanna Hadler, Jiang Lei, He Dongyi, Sun Linyun, Zeng Xiaofeng, Visscher Peter M, Brown Matthew A, Xu Hu |
| Non-HLA genes modulate the risk of rheumatoid arthritis associated with HLA-DRB1 in a susceptible North American Native population. Genes and immunity 2011 Oct 12 (7): 568-74. El-Gabalawy H S, Robinson D B, Daha N A, Oen K G, Smolik I, Elias B, Hart D, Bernstein C N, Sun Y, Lu Y, Houwing-Duistermaat J J, Siminovitch K |
| The mitochondrial and autosomal mutation landscapes of prostate cancer. European urology 2012 Dec . Lindberg J, Mills IG, Klevebring D, Liu W, Neiman M, Xu J, Wikström P, Wiklund P, Wiklund F, Egevad L, Grönberg H |
| Investigation of rheumatoid arthritis genetic susceptibility markers in the early rheumatoid arthritis study further replicates the TRAF1 association with radiological damage. The Journal of rheumatology 2012 Dec . Viatte S, Plant D, Lunt M, Fu B, Flynn E, Parker BJ, Galloway J, Solymossy C, Worthington J, Symmons DP, Dixey JJ, Young A, Barton A |
| Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. Neurology 2014 Aug 83 (7): 612-9. Liu Yo-Tsen, Laurá Matilde, Hersheson Joshua, Horga Alejandro, Jaunmuktane Zane, Brandner Sebastian, Pittman Alan, Hughes Deborah, Polke James M, Sweeney Mary G, Proukakis Christos, Janssen John C, Auer-Grumbach Michaela, Zuchner Stephan, Shields Kevin G, Reilly Mary M, Houlden Hen |
| Axonal motor protein KIF5A and associated cargo deficits in multiple sclerosis lesional and normal-appearing white matter. Neuropathology and applied neurobiology 2016 Jan . Hares Kelly, Redondo Juliana, Kemp Kevin, Rice Claire, Scolding Neil, Wilkins Alasta |
| Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. European journal of human genetics : EJHG 2017 8 25 (11): 1217-1228. Morais Sara, Raymond Laure, Mairey Mathilde, Coutinho Paula, Brandão Eva, Ribeiro Paula, Loureiro José Leal, Sequeiros Jorge, Brice Alexis, Alonso Isabel, Stevanin Giovan |
| Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis. Annals of neurology 2018 Jun . Jia Xiaoming, Madireddy Lohith, Caillier Stacy, Santaniello Adam, Esposito Federica, Comi Giancarlo, Stuve Olaf, Zhou Yuan, Taylor Bruce, Kilpatrick Trevor, Martinelli-Boneschi Filippo, Cree Bruce A C, Oksenberg Jorge R, Hauser Stephen L, Baranzini Sergio |
| Hot-spot KIF5A mutations cause familial ALS. Brain : a journal of neurology 2018 1 141 (3): 688-697. Brenner David, Yilmaz Rüstem, Müller Kathrin, Grehl Torsten, Petri Susanne, Meyer Thomas, Grosskreutz Julian, Weydt Patrick, Ruf Wolfgang, Neuwirth Christoph, Weber Markus, Pinto Susana, Claeys Kristl G, Schrank Berthold, Jordan Berit, Knehr Antje, Günther Kornelia, Hübers Annemarie, Zeller Daniel, Kubisch Christian, Jablonka Sibylle, Sendtner Michael, Klopstock Thomas, de Carvalho Mamede, Sperfeld Anne, Borck Guntram, Volk Alexander E, Dorst Johannes, Weis Joachim, Otto Markus, Schuster Joachim, Del Tredici Kelly, Braak Heiko, Danzer Karin M, Freischmidt Axel, Meitinger Thomas, Strom Tim M, Ludolph Albert C, Andersen Peter M, Weishaupt Jochen H, |
| 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 |
| Whole genome sequencing and rare variant analysis in essential tremor families. PloS one 2019 8 14 (8): e0220512. Odgerel Zagaa, Sonti Shilpa, Hernandez Nora, Park Jemin, Ottman Ruth, Louis Elan D, Clark Lorraine |
| Molecular analysis and clinical diversity of distal hereditary motor neuropathy. European journal of neurology 2020 4 27 (7): 1319-1326. Liu X, Duan X, Zhang Y, Sun A, Fan |
| Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants. Frontiers in genetics 2021 8 12 682050. Ferese Rosangela, Campopiano Rosa, Scala Simona, D'Alessio Carmelo, Storto Marianna, Buttari Fabio, Centonze Diego, Logroscino Giancarlo, Zecca Chiara, Zampatti Stefania, Fornai Francesco, Cianci Vittoria, Manfroi Elisabetta, Giardina Emiliano, Magnani Mauro, Suppa Antonio, Novelli Giuseppe, Gambardella Stefa |
| The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease. Turkish neurosurgery 2021 6 31 (6): 888-895. Yalcintepe Sinem, Gurkan Hakan, Dogan Ipek Gungor, Demir Selma, Sag Sebnem Ozemri, Kabayegit Zehra Manav, Atli Emine Ikbal, Atli Engin, Eker Damla, Temel Sehime Guls |
| KIF5A and the contribution of susceptibility genotypes as a predictive biomarker for multiple sclerosis. Journal of neurology 2021 Jan . Hares Kelly, Kemp K, Loveless S, Rice C M, Scolding N, Tallantyre E, Robertson N, Wilkins |
| Clinical relevance of single-subject brain metabolism patterns in amyotrophic lateral sclerosis mutation carriers. NeuroImage. Clinical 2022 10 36 103222. Tondo Giacomo, Mazzini Letizia, Caminiti Silvia Paola, Sarnelli Maria Francesca, Corrado Lucia, Matheoud Roberta, D'Alfonso Sandra, Cantello Roberto, Sacchetti Gian Mauro, Perani Daniela, Comi Cristoforo, De Marchi Fabio |
| The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia. Frontiers in neurology 2023 9 14 1239725. Amokelani C Mahungu, Elizabeth Steyn, Niki Floudiotis, Lindsay A Wilson, Jana Vandrovcova, Mary M Reilly, Christopher J Record, Michael Benatar, Gang Wu, Sharika Raga, Jo M Wilmshurst, Kireshnee Naidu, Michael Hanna, Melissa Nel, Jeannine M Heckma |
| Genetic link between KIF1A mutations and amyotrophic lateral sclerosis: evidence from whole-exome sequencing. Frontiers in aging neuroscience 2024 7 16 1421841. Wei Zheng, Ji He, Lu Chen, Weiyi Yu, Nan Zhang, Xiaoxuan Liu, Dongsheng F |
| Increased copy-number variant load of associated risk genes in sporadic cases of amyotrophic lateral sclerosis. Cellular and molecular life sciences : CMLS 2024 7 81 (1): 316. Maria Guarnaccia, Giovanna Morello, Valentina La Cognata, Vincenzo La Bella, Francesca Luisa Conforti, Sebastiano Cavalla |
| Whole-Genome Sequencing Identified a Novel Mutation in the N-Terminal Domain of KIF5A in Chinese Patients with Familial Amyotrophic Lateral Sclerosis. Genes 2024 6 15 (6): . Hui Wang, Liping Guan, Xiaojuan Ma, Yiying Wang, Jinhao Wang, Peipei Zhang, Min De |
- Page last reviewed:Feb 1, 2024
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