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Page 1
Spectrin mutations cause spinocerebellar ataxia type 5.
Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, Stevanin G, Dürr A, Zühlke C, Bürk K, Clark HB, Brice A, Rothstein JD, Schut LJ, Day JW, Ranum LP. Ikeda Y, et al. Among authors: burk k. Nat Genet. 2006 Feb;38(2):184-90. doi: 10.1038/ng1728. Epub 2006 Jan 22. Nat Genet. 2006. PMID: 16429157
A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression.
Bürk K, Kaiser FJ, Tennstedt S, Schöls L, Kreuz FR, Wieland T, Strom TM, Büttner T, Hollstein R, Braunholz D, Plaschke J, Gillessen-Kaesbach G, Zühlke C. Bürk K, et al. Eur J Med Genet. 2014 Apr;57(5):207-11. doi: 10.1016/j.ejmg.2014.01.005. Epub 2014 Jan 29. Eur J Med Genet. 2014. PMID: 24486772
Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families.
Cancel G, Dürr A, Didierjean O, Imbert G, Bürk K, Lezin A, Belal S, Benomar A, Abada-Bendib M, Vial C, Guimarães J, Chneiweiss H, Stevanin G, Yvert G, Abbas N, Saudou F, Lebre AS, Yahyaoui M, Hentati F, Vernant JC, Klockgether T, Mandel JL, Agid Y, Brice A. Cancel G, et al. Among authors: burk k. Hum Mol Genet. 1997 May;6(5):709-15. doi: 10.1093/hmg/6.5.709. Hum Mol Genet. 1997. PMID: 9158145
Linkage disequilibrium at the SCA2 locus.
Didierjean O, Cancel G, Stevanin G, Dürr A, Bürk K, Benomar A, Lezin A, Belal S, Abada-Bendid M, Klockgether T, Brice A. Didierjean O, et al. Among authors: burk k. J Med Genet. 1999 May;36(5):415-7. J Med Genet. 1999. PMID: 10353790 Free PMC article.
241 results