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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
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
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
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
DLB and PDD boundary issues: diagnosis, treatment, molecular pathology, and biomarkers.
Lippa CF, Duda JE, Grossman M, Hurtig HI, Aarsland D, Boeve BF, Brooks DJ, Dickson DW, Dubois B, Emre M, Fahn S, Farmer JM, Galasko D, Galvin JE, Goetz CG, Growdon JH, Gwinn-Hardy KA, Hardy J, Heutink P, Iwatsubo T, Kosaka K, Lee VM, Leverenz JB, Masliah E, McKeith IG, Nussbaum RL, Olanow CW, Ravina BM, Singleton AB, Tanner CM, Trojanowski JQ, Wszolek ZK; DLB/PDD Working Group. Lippa CF, et al. Among authors: nussbaum rl. Neurology. 2007 Mar 13;68(11):812-9. doi: 10.1212/01.wnl.0000256715.13907.d3. Neurology. 2007. PMID: 17353469 Review.
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.
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.
439 results