Human Genome Epidemiology Literature Finder
|
Records 1 - 9 (of 9 Records) |
| Query Trace: Paraplegia and KIF5A[original query] |
|---|
| 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 |
| 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 |
| 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 |
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Neuron 2018 Mar 97 (6): 1268-1283.e6. Nicolas Aude, Kenna Kevin P, Renton Alan E, Ticozzi Nicola, Faghri Faraz, Chia Ruth, Dominov Janice A, Kenna Brendan J, Nalls Mike A, Keagle Pamela, Rivera Alberto M, van Rheenen Wouter, Murphy Natalie A, van Vugt Joke J F A, Geiger Joshua T, Van der Spek Rick A, Pliner Hannah A, Shankaracharya , Smith Bradley N, Marangi Giuseppe, Topp Simon D, Abramzon Yevgeniya, Gkazi Athina Soragia, Eicher John D, Kenna Aoife, , Mora Gabriele, Calvo Andrea, Mazzini Letizia, Riva Nilo, Mandrioli Jessica, Caponnetto Claudia, Battistini Stefania, Volanti Paolo, La Bella Vincenzo, Conforti Francesca L, Borghero Giuseppe, Messina Sonia, Simone Isabella L, Trojsi Francesca, Salvi Fabrizio, Logullo Francesco O, D'Alfonso Sandra, Corrado Lucia, Capasso Margherita, Ferrucci Luigi, , Moreno Cristiane de Araujo Martins, Kamalakaran Sitharthan, Goldstein David B, , Gitler Aaron D, Harris Tim, Myers Richard M, , Phatnani Hemali, Musunuri Rajeeva Lochan, Evani Uday Shankar, Abhyankar Avinash, Zody Michael C, , Kaye Julia, Finkbeiner Steven, Wyman Stacia K, LeNail Alex, Lima Leandro, Fraenkel Ernest, Svendsen Clive N, Thompson Leslie M, Van Eyk Jennifer E, Berry James D, Miller Timothy M, Kolb Stephen J, Cudkowicz Merit, Baxi Emily, , Benatar Michael, Taylor J Paul, Rampersaud Evadnie, Wu Gang, Wuu Joanne, , Lauria Giuseppe, Verde Federico, Fogh Isabella, Tiloca Cinzia, Comi Giacomo P, Sorarù Gianni, Cereda Cristina, , Corcia Philippe, Laaksovirta Hannu, Myllykangas Liisa, Jansson Lilja, Valori Miko, Ealing John, Hamdalla Hisham, Rollinson Sara, Pickering-Brown Stuart, Orrell Richard W, Sidle Katie C, Malaspina Andrea, Hardy John, Singleton Andrew B, Johnson Janel O, Arepalli Sampath, Sapp Peter C, McKenna-Yasek Diane, Polak Meraida, Asress Seneshaw, Al-Sarraj Safa, King Andrew, Troakes Claire, Vance Caroline, de Belleroche Jacqueline, Baas Frank, Ten Asbroek Anneloor L M A, Muñoz-Blanco José Luis, Hernandez Dena G, Ding Jinhui, Gibbs J Raphael, Scholz Sonja W, Floeter Mary Kay, Campbell Roy H, Landi Francesco, Bowser Robert, Pulst Stefan M, Ravits John M, MacGowan Daniel J L, Kirby Janine, Pioro Erik P, Pamphlett Roger, Broach James, Gerhard Glenn, Dunckley Travis L, Brady Christopher B, Kowall Neil W, Troncoso Juan C, Le Ber Isabelle, Mouzat Kevin, Lumbroso Serge, Heiman-Patterson Terry D, Kamel Freya, Van Den Bosch Ludo, Baloh Robert H, Strom Tim M, Meitinger Thomas, Shatunov Aleksey, Van Eijk Kristel R, de Carvalho Mamede, Kooyman Maarten, Middelkoop Bas, Moisse Matthieu, McLaughlin Russell L, Van Es Michael A, Weber Markus, Boylan Kevin B, Van Blitterswijk Marka, Rademakers Rosa, Morrison Karen E, Basak A Nazli, Mora Jesús S, Drory Vivian E, Shaw Pamela J, Turner Martin R, Talbot Kevin, Hardiman Orla, Williams Kelly L, Fifita Jennifer A, Nicholson Garth A, Blair Ian P, Rouleau Guy A, Esteban-Pérez Jesús, García-Redondo Alberto, Al-Chalabi Ammar, , Rogaeva Ekaterina, Zinman Lorne, Ostrow Lyle W, Maragakis Nicholas J, Rothstein Jeffrey D, Simmons Zachary, Cooper-Knock Johnathan, Brice Alexis, Goutman Stephen A, Feldman Eva L, Gibson Summer B, Taroni Franco, Ratti Antonia, Gellera Cinzia, Van Damme Philip, Robberecht Wim, Fratta Pietro, Sabatelli Mario, Lunetta Christian, Ludolph Albert C, Andersen Peter M, Weishaupt Jochen H, Camu William, Trojanowski John Q, Van Deerlin Vivianna M, Brown Robert H, van den Berg Leonard H, Veldink Jan H, Harms Matthew B, Glass Jonathan D, Stone David J, Tienari Pentti, Silani Vincenzo, Chiò Adriano, Shaw Christopher E, Traynor Bryan J, Landers John |
| 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, |
| 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 |
| [Genetic distribution in Chinese patients with hereditary peripheral neuropathy]. Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2022 10 54 (5): 874-883. Liu X X, Duan X H, Zhang S, Sun A P, Zhang Y S, Fan D |
| 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 |
- Page last reviewed:Feb 1, 2024
- Content source: