Human Genome Epidemiology Literature Finder
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Query Trace: Ataxia and KCNC3[original query] |
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Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13). PloS one 2011 6 (3): e17811. Figueroa Karla P, Waters Michael F, Garibyan Vartan, Bird Thomas D, Gomez Christopher M, Ranum Laura P W, Minassian Natali A, Papazian Diane M, Pulst Stefan |
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. Brain : a journal of neurology 2013 Oct 136 (Pt 10): 3106-18. Németh Andrea H, Kwasniewska Alexandra C, Lise Stefano, Parolin Schnekenberg Ricardo, Becker Esther B E, Bera Katarzyna D, Shanks Morag E, Gregory Lorna, Buck David, Zameel Cader M, Talbot Kevin, de Silva Rajith, Fletcher Nicholas, Hastings Rob, Jayawant Sandeep, Morrison Patrick J, Worth Paul, Taylor Malcolm, Tolmie John, O'Regan Mary, , Valentine Ruth, Packham Emily, Evans Julie, Seller Anneke, Ragoussis Jiann |
Spinocerebellar ataxia type 13 is an uncommon SCA subtype in the Chinese Han population. The International journal of neuroscience 2013 Jan . Peng L, Wang C, Chen Z, Wang JL, Tang BS, Jiang H |
De novo point mutations in patients diagnosed with ataxic cerebral palsy. Brain : a journal of neurology 2015 Jul 138 (Pt 7): 1817-32. Parolin Schnekenberg Ricardo, Perkins Emma M, Miller Jack W, Davies Wayne I L, D'Adamo Maria Cristina, Pessia Mauro, Fawcett Katherine A, Sims David, Gillard Elodie, Hudspith Karl, Skehel Paul, Williams Jonathan, O'Regan Mary, Jayawant Sandeep, Jefferson Rosalind, Hughes Sarah, Lustenberger Andrea, Ragoussis Jiannis, Jackson Mandy, Tucker Stephen J, Németh Andrea |
Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases. PloS one 2015 10 (3): e0116599. Duarri Anna, Nibbeling Esther A R, Fokkens Michiel R, Meijer Michel, Boerrigter Melissa, Verschuuren-Bemelmans Corien C, Kremer Berry P H, van de Warrenburg Bart P, Dooijes Dennis, Boddeke Erik, Sinke Richard J, Verbeek Dineke |
Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia. Clinical genetics 2016 Apr . Barresi S, Niceta M, Alfieri P, Brankovich V, Piccini G, Bruselles A, Barone M R, Cusmai R, Tartaglia M, Bertini E, Zanni |
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. Brain : a journal of neurology 2017 Jun 140 (6): 1579-1594. Coutelier Marie, Coarelli Giulia, Monin Marie-Lorraine, Konop Juliette, Davoine Claire-Sophie, Tesson Christelle, Valter Rémi, Anheim Mathieu, Behin Anthony, Castelnovo Giovanni, Charles Perrine, David Albert, Ewenczyk Claire, Fradin Mélanie, Goizet Cyril, Hannequin Didier, Labauge Pierre, Riant Florence, Sarda Pierre, Sznajer Yves, Tison François, Ullmann Urielle, Van Maldergem Lionel, Mochel Fanny, Brice Alexis, Stevanin Giovanni, Durr Alexandra, |
V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations. Neurology. Genetics 2021 Feb 7 (1): e546. Paucar Martin, Ågren Richard, Li Tianyi, Lissmats Simon, Bergendal Åsa, Weinberg Jan, Nilsson Daniel, Savichetva Irina, Sahlholm Kristoffer, Nilsson Johanna, Svenningsson P |
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