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Page 1
Peripherin gene is linked to keratin 18 gene on human chromosome 12.
Blumenfeld A, Lucente DE, Trofatter JA, Lerner T, Slaugenhaupt SA, Liebert CB, Monahan M, Haines JL, Gusella JF, Breakefield XO, Parysek LM. Blumenfeld A, et al. Among authors: lucente de. Somat Cell Mol Genet. 1995 Jan;21(1):83-8. doi: 10.1007/BF02255825. Somat Cell Mol Genet. 1995. PMID: 7541564
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
Lee JM, Gillis T, Mysore JS, Ramos EM, Myers RH, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Griguoli A, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, MacDonald ME, Gusella JF. Lee JM, et al. Among authors: lucente d. Am J Hum Genet. 2012 Mar 9;90(3):434-44. doi: 10.1016/j.ajhg.2012.01.005. Epub 2012 Mar 1. Am J Hum Genet. 2012. PMID: 22387017 Free PMC article.
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, Ernst C, Hanscom C, Rossin E, Lindgren AM, Pereira S, Ruderfer D, Kirby A, Ripke S, Harris DJ, Lee JH, Ha K, Kim HG, Solomon BD, Gropman AL, Lucente D, Sims K, Ohsumi TK, Borowsky ML, Loranger S, Quade B, Lage K, Miles J, Wu BL, Shen Y, Neale B, Shaffer LG, Daly MJ, Morton CC, Gusella JF. Talkowski ME, et al. Among authors: lucente d. Cell. 2012 Apr 27;149(3):525-37. doi: 10.1016/j.cell.2012.03.028. Epub 2012 Apr 19. Cell. 2012. PMID: 22521361 Free PMC article.
TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease.
Lee JH, Lee JM, Ramos EM, Gillis T, Mysore JS, Kishikawa S, Hadzi T, Hendricks AE, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Gellera C, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Landwehrmeyer GB; Registry Study of the European Huntington's Disease Network; Shoulson I; Huntington Study Group COHORT project; Myers RH, MacDonald ME, Gusella JF. Lee JH, et al. Among authors: lucente d. Biochem Biophys Res Commun. 2012 Aug 3;424(3):404-8. doi: 10.1016/j.bbrc.2012.06.120. Epub 2012 Jul 3. Biochem Biophys Res Commun. 2012. PMID: 22771793 Free PMC article.
Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset.
Ramos EM, Latourelle JC, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Gellera C, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Gusella JF, Lee JM, Alonso I, Sequeiros J, Myers RH, Macdonald ME. Ramos EM, et al. Among authors: lucente d. Neurogenetics. 2013 Nov;14(3-4):173-9. doi: 10.1007/s10048-013-0364-y. Epub 2013 May 4. Neurogenetics. 2013. PMID: 23644918 Free PMC article.
Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.
Lojewski X, Staropoli JF, Biswas-Legrand S, Simas AM, Haliw L, Selig MK, Coppel SH, Goss KA, Petcherski A, Chandrachud U, Sheridan SD, Lucente D, Sims KB, Gusella JF, Sondhi D, Crystal RG, Reinhardt P, Sterneckert J, Schöler H, Haggarty SJ, Storch A, Hermann A, Cotman SL. Lojewski X, et al. Among authors: lucente d. Hum Mol Genet. 2014 Apr 15;23(8):2005-22. doi: 10.1093/hmg/ddt596. Epub 2013 Nov 23. Hum Mol Genet. 2014. PMID: 24271013 Free PMC article.
CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.
Sugathan A, Biagioli M, Golzio C, Erdin S, Blumenthal I, Manavalan P, Ragavendran A, Brand H, Lucente D, Miles J, Sheridan SD, Stortchevoi A, Kellis M, Haggarty SJ, Katsanis N, Gusella JF, Talkowski ME. Sugathan A, et al. Among authors: lucente d. Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):E4468-77. doi: 10.1073/pnas.1405266111. Epub 2014 Oct 7. Proc Natl Acad Sci U S A. 2014. PMID: 25294932 Free PMC article.
87 results