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Hereditary early-onset Parkinson's disease caused by mutations in PINK1.
Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, González-Maldonado R, Deller T, Salvi S, Cortelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, Wood NW. Valente EM, et al. Among authors: nussbaum r. Science. 2004 May 21;304(5674):1158-60. doi: 10.1126/science.1096284. Epub 2004 Apr 15. Science. 2004. PMID: 15087508
Parkinson phenotype in aged PINK1-deficient mice is accompanied by progressive mitochondrial dysfunction in absence of neurodegeneration.
Gispert S, Ricciardi F, Kurz A, Azizov M, Hoepken HH, Becker D, Voos W, Leuner K, Müller WE, Kudin AP, Kunz WS, Zimmermann A, Roeper J, Wenzel D, Jendrach M, García-Arencíbia M, Fernández-Ruiz J, Huber L, Rohrer H, Barrera M, Reichert AS, Rüb U, Chen A, Nussbaum RL, Auburger G. Gispert S, et al. PLoS One. 2009 Jun 3;4(6):e5777. doi: 10.1371/journal.pone.0005777. PLoS One. 2009. PMID: 19492057 Free PMC article.
Mutation in the alpha-synuclein gene identified in families with Parkinson's disease.
Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL. Polymeropoulos MH, et al. Among authors: nussbaum rl. Science. 1997 Jun 27;276(5321):2045-7. doi: 10.1126/science.276.5321.2045. Science. 1997. PMID: 9197268
Mapping of a gene for Parkinson's disease to chromosome 4q21-q23.
Polymeropoulos MH, Higgins JJ, Golbe LI, Johnson WG, Ide SE, Di Iorio G, Sanges G, Stenroos ES, Pho LT, Schaffer AA, Lazzarini AM, Nussbaum RL, Duvoisin RC. Polymeropoulos MH, et al. Among authors: nussbaum rl. Science. 1996 Nov 15;274(5290):1197-9. doi: 10.1126/science.274.5290.1197. Science. 1996. PMID: 8895469
Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.
Rogaeva E, Johnson J, Lang AE, Gulick C, Gwinn-Hardy K, Kawarai T, Sato C, Morgan A, Werner J, Nussbaum R, Petit A, Okun MS, McInerney A, Mandel R, Groen JL, Fernandez HH, Postuma R, Foote KD, Salehi-Rad S, Liang Y, Reimsnider S, Tandon A, Hardy J, St George-Hyslop P, Singleton AB. Rogaeva E, et al. Among authors: nussbaum r. Arch Neurol. 2004 Dec;61(12):1898-904. doi: 10.1001/archneur.61.12.1898. Arch Neurol. 2004. PMID: 15596610
439 results