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Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, Graf E, Sanford L, Meyer E, Kara E, Cuno SM, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Frucht S, Hanspal E, Schrander-Stumpel C, Héron D, Mignot C, Garavaglia B, Bhatia K, Hardy J, Strom TM, Boddaert N, Houlden HH, Kurian MA, Meitinger T, Prokisch H, Hayflick SJ. Haack TB, et al. Among authors: bhatia k. Am J Hum Genet. 2012 Dec 7;91(6):1144-9. doi: 10.1016/j.ajhg.2012.10.019. Epub 2012 Nov 21. Am J Hum Genet. 2012. PMID: 23176820 Free PMC article.
Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype.
Asmus F, Zimprich A, Tezenas Du Montcel S, Kabus C, Deuschl G, Kupsch A, Ziemann U, Castro M, Kühn AA, Strom TM, Vidailhet M, Bhatia KP, Dürr A, Wood NW, Brice A, Gasser T. Asmus F, et al. Ann Neurol. 2002 Oct;52(4):489-92. doi: 10.1002/ana.10325. Ann Neurol. 2002. PMID: 12325078
Characterization of PLA2G6 as a locus for dystonia-parkinsonism.
Paisan-Ruiz C, Bhatia KP, Li A, Hernandez D, Davis M, Wood NW, Hardy J, Houlden H, Singleton A, Schneider SA. Paisan-Ruiz C, et al. Ann Neurol. 2009 Jan;65(1):19-23. doi: 10.1002/ana.21415. Ann Neurol. 2009. PMID: 18570303 Free PMC article.
Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency.
Stamelou M, Mencacci NE, Cordivari C, Batla A, Wood NW, Houlden H, Hardy J, Bhatia KP. Stamelou M, et al. Neurology. 2012 Jul 31;79(5):435-41. doi: 10.1212/WNL.0b013e318261714a. Epub 2012 Jul 18. Neurology. 2012. PMID: 22815559 Free PMC article.
1,670 results