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Page 1
alpha-Synuclein locus triplication causes Parkinson's disease.
Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R, Lincoln S, Crawley A, Hanson M, Maraganore D, Adler C, Cookson MR, Muenter M, Baptista M, Miller D, Blancato J, Hardy J, Gwinn-Hardy K. Singleton AB, et al. Among authors: nussbaum r. Science. 2003 Oct 31;302(5646):841. doi: 10.1126/science.1090278. Science. 2003. PMID: 14593171 No abstract available.
Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease.
Simon-Sanchez J, Hanson M, Singleton A, Hernandez D, McInerney A, Nussbaum R, Werner J, Gallardo M, Weiser R, Gwinn-Hardy K, Singleton AB, Clarimon J. Simon-Sanchez J, et al. Among authors: nussbaum r. Neurosci Lett. 2005 Jul 1-8;382(1-2):191-4. doi: 10.1016/j.neulet.2005.03.015. Epub 2005 Apr 1. Neurosci Lett. 2005. PMID: 15911147
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
SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies.
Johnson J, Hague SM, Hanson M, Gibson A, Wilson KE, Evans EW, Singleton AA, McInerney-Leo A, Nussbaum RL, Hernandez DG, Gallardo M, McKeith IG, Burn DJ, Ryu M, Hellstrom O, Ravina B, Eerola J, Perry RH, Jaros E, Tienari P, Weiser R, Gwinn-Hardy K, Morris CM, Hardy J, Singleton AB. Johnson J, et al. Among authors: nussbaum rl. Neurology. 2004 Aug 10;63(3):554-6. doi: 10.1212/01.wnl.0000133401.09043.44. Neurology. 2004. PMID: 15304594
Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation.
Johnson J, Paisán-Ruíz C, Lopez G, Crews C, Britton A, Malkani R, Evans EW, McInerney-Leo A, Jain S, Nussbaum RL, Foote KD, Mandel RJ, Crawley A, Reimsnider S, Fernandez HH, Okun MS, Gwinn-Hardy K, Singleton AB. Johnson J, et al. Among authors: nussbaum rl. Neurodegener Dis. 2007;4(5):386-91. doi: 10.1159/000105160. Epub 2007 Jul 6. Neurodegener Dis. 2007. PMID: 17622782
Absence of mutation in the beta- and gamma-synuclein genes in familial autosomal dominant Parkinson's disease.
Lavedan C, Buchholtz S, Auburger G, Albin RL, Athanassiadou A, Blancato J, Burguera JA, Ferrell RE, Kostic V, Leroy E, Leube B, Mota-Vieira L, Papapetropoulos T, Pericak-Vance MA, Pinkus J, Scott WK, Ulm G, Vasconcelos J, Vilchez JJ, Nussbaum RL, Polymeropoulos MH. Lavedan C, et al. Among authors: nussbaum rl. DNA Res. 1998 Dec 31;5(6):401-2. doi: 10.1093/dnares/5.6.401. DNA Res. 1998. PMID: 10048491 Free article. No abstract available.
446 results