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Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.
Neumann J, Bras J, Deas E, O'Sullivan SS, Parkkinen L, Lachmann RH, Li A, Holton J, Guerreiro R, Paudel R, Segarane B, Singleton A, Lees A, Hardy J, Houlden H, Revesz T, Wood NW. Neumann J, et al. Among authors: houlden h. Brain. 2009 Jul;132(Pt 7):1783-94. doi: 10.1093/brain/awp044. Epub 2009 Mar 13. Brain. 2009. PMID: 19286695 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. Among authors: houlden h. Neurology. 2012 Jul 31;79(5):435-41. doi: 10.1212/WNL.0b013e318261714a. Epub 2012 Jul 18. Neurology. 2012. PMID: 22815559 Free PMC article.
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, Hermann M, Quinn E, Maas J, Edwards R, Ashizawa T, Baykan B, Bhatia K, Bressman S, Bruno MK, Brunt ER, Caraballo R, Echenne B, Fejerman N, Frucht S, Gurnett CA, Hirsch E, Houlden H, Jankovic J, Lee WL, Lynch DR, Mohammed S, Müller U, Nespeca MP, Renner D, Rochette J, Rudolf G, Saiki S, Soong BW, Swoboda KJ, Tucker S, Wood N, Hanna M, Bowcock AM, Szepetowski P, Fu YH, Ptáček LJ. Lee HY, et al. Among authors: houlden h. Cell Rep. 2012 Jan 26;1(1):2-12. doi: 10.1016/j.celrep.2011.11.001. Epub 2011 Dec 15. Cell Rep. 2012. PMID: 22832103 Free PMC article.
703 results