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C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.
Alazami AM, Schneider SA, Bonneau D, Pasquier L, Carecchio M, Kojovic M, Steindl K, de Kerdanet M, Nezarati MM, Bhatia KP, Degos B, Goh E, Alkuraya FS. Alazami AM, et al. Among authors: bhatia kp. Clin Genet. 2010 Dec;78(6):585-90. doi: 10.1111/j.1399-0004.2010.01441.x. Clin Genet. 2010. PMID: 20507343
THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.
Houlden H, Schneider SA, Paudel R, Melchers A, Schwingenschuh P, Edwards M, Hardy J, Bhatia KP. Houlden H, et al. Among authors: bhatia kp. Neurology. 2010 Mar 9;74(10):846-50. doi: 10.1212/WNL.0b013e3181d5276d. Neurology. 2010. PMID: 20211909 Free PMC article.
Familial dopa-responsive cervical dystonia.
Schneider SA, Mohire MD, Trender-Gerhard I, Asmus F, Sweeney M, Davis M, Gasser T, Wood NW, Bhatia KP. Schneider SA, et al. Among authors: bhatia kp. Neurology. 2006 Feb 28;66(4):599-601. doi: 10.1212/01.wnl.0000198501.61063.66. Neurology. 2006. PMID: 16505323
717 results