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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, |
Genetic Variants Associated with Episodic Ataxia in Korea. Scientific reports 2017 10 7 (1): 13855. Choi Kwang-Dong, Kim Ji-Soo, Kim Hyo-Jung, Jung Ileok, Jeong Seong-Hae, Lee Seung-Han, Kim Dong Uk, Kim Sang-Ho, Choi Seo Young, Shin Jin-Hong, Kim Dae-Seong, Park Kyung-Pil, Kim Hyang-Sook, Choi Jae-Hw |
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 11 in the Chinese Han population. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2010 Feb 31 (1): 107-9. Xu Qian, Li Xiaohui, Wang Junling, Yi JiPing, Lei Lifang, Shen Lu, Jiang Hong, Xia Kun, Pan Qian, Tang Beis |
Missense exchanges in the TTBK2 gene mutated in SCA11. Journal of neurology 2009 Jun . Edener U, Kurth I, Meiner A, Hoffmann F, Hübner CA, Bernard V, Gillessen-Kaesbach G, Zühlke C |
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