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Items: 1 to 20 of 158

1.

Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.

Kilarski LL, Pearson JP, Newsway V, Majounie E, Knipe MD, Misbahuddin A, Chinnery PF, Burn DJ, Clarke CE, Marion MH, Lewthwaite AJ, Nicholl DJ, Wood NW, Morrison KE, Williams-Gray CH, Evans JR, Sawcer SJ, Barker RA, Wickremaratchi MM, Ben-Shlomo Y, Williams NM, Morris HR.

Mov Disord. 2012 Oct;27(12):1522-9. doi: 10.1002/mds.25132. Epub 2012 Sep 6. Review.

PMID:
22956510
2.

Analysis of LRRK2, SNCA, Parkin, PINK1, and DJ-1 in Zambian patients with Parkinson's disease.

Yonova-Doing E, Atadzhanov M, Quadri M, Kelly P, Shawa N, Musonda ST, Simons EJ, Breedveld GJ, Oostra BA, Bonifati V.

Parkinsonism Relat Disord. 2012 Jun;18(5):567-71. doi: 10.1016/j.parkreldis.2012.02.018. Epub 2012 Mar 24.

PMID:
22445250
3.

Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease.

Macedo MG, Verbaan D, Fang Y, van Rooden SM, Visser M, Anar B, Uras A, Groen JL, Rizzu P, van Hilten JJ, Heutink P.

Mov Disord. 2009 Jan 30;24(2):196-203. doi: 10.1002/mds.22287.

PMID:
18973254
4.

Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease.

Choi JM, Woo MS, Ma HI, Kang SY, Sung YH, Yong SW, Chung SJ, Kim JS, Shin HW, Lyoo CH, Lee PH, Baik JS, Kim SJ, Park MY, Sohn YH, Kim JH, Kim JW, Lee MS, Lee MC, Kim DH, Kim YJ.

Neurogenetics. 2008 Oct;9(4):263-9. doi: 10.1007/s10048-008-0138-0. Epub 2008 Aug 15.

PMID:
18704525
5.

Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients.

Koziorowski D, Hoffman-Zacharska D, Sławek J, Jamrozik Z, Janik P, Potulska-Chromik A, Roszmann A, Tataj R, Bal J, Friedman A.

Neurol Neurochir Pol. 2013 Jul-Aug;47(4):319-24.

PMID:
23986421
6.

Screening PARK genes for mutations in early-onset Parkinson's disease patients from Queensland, Australia.

Mellick GD, Siebert GA, Funayama M, Buchanan DD, Li Y, Imamichi Y, Yoshino H, Silburn PA, Hattori N.

Parkinsonism Relat Disord. 2009 Feb;15(2):105-9. doi: 10.1016/j.parkreldis.2007.11.016. Epub 2008 May 19.

PMID:
18486522
7.

PINK1 mutations in a Brazilian cohort of early-onset Parkinson's disease patients.

Godeiro-Junior C, de Carvalho-Aguiar PM, Felício AC, Barsottini OG, Silva SM, Borges V, Andrade LA, Ferraz HB.

Mov Disord. 2009 Aug 15;24(11):1693-6. doi: 10.1002/mds.22685.

PMID:
19562775
8.

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Nuytemans K, Theuns J, Cruts M, Van Broeckhoven C.

Hum Mutat. 2010 Jul;31(7):763-80. doi: 10.1002/humu.21277. Review.

9.

Exon dosage variations in Brazilian patients with Parkinson's disease: analysis of SNCA, PARKIN, PINK1 and DJ-1 genes.

Moura KC, Junior MC, de Rosso AL, Nicaretta DH, Pereira JS, José Silva D, Santos-Rebouças CB, Pimentel MM.

Dis Markers. 2012;32(3):173-8. doi: 10.3233/DMA-2011-0873.

10.

Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations.

Camargos ST, Dornas LO, Momeni P, Lees A, Hardy J, Singleton A, Cardoso F.

Mov Disord. 2009 Apr 15;24(5):662-6. doi: 10.1002/mds.22365.

11.

Genetic mutations in early-onset Parkinson's disease Mexican patients: molecular testing implications.

Monroy-Jaramillo N, Guerrero-Camacho JL, Rodríguez-Violante M, Boll-Woehrlen MC, Yescas-Gómez P, Alonso-Vilatela ME, López-López M.

Am J Med Genet B Neuropsychiatr Genet. 2014 Apr;165B(3):235-44. doi: 10.1002/ajmg.b.32228. Epub 2014 Feb 23.

PMID:
24677602
12.

Analysis of the genetic variability in Parkinson's disease from Southern Spain.

Bandrés-Ciga S, Mencacci NE, Durán R, Barrero FJ, Escamilla-Sevilla F, Morgan S, Hehir J, Vives F, Hardy J, Pittman AM.

Neurobiol Aging. 2016 Jan;37:210.e1-210.e5. doi: 10.1016/j.neurobiolaging.2015.09.020. Epub 2015 Oct 8.

PMID:
26518746
13.

Pathogenic mutations in Parkinson disease.

Tan EK, Skipper LM.

Hum Mutat. 2007 Jul;28(7):641-53. Review.

PMID:
17385668
14.

Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population.

Nuytemans K, Meeus B, Crosiers D, Brouwers N, Goossens D, Engelborghs S, Pals P, Pickut B, Van den Broeck M, Corsmit E, Cras P, De Deyn PP, Del-Favero J, Van Broeckhoven C, Theuns J.

Hum Mutat. 2009 Jul;30(7):1054-61. doi: 10.1002/humu.21007.

PMID:
19405094
15.

DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease.

Hedrich K, Djarmati A, Schäfer N, Hering R, Wellenbrock C, Weiss PH, Hilker R, Vieregge P, Ozelius LJ, Heutink P, Bonifati V, Schwinger E, Lang AE, Noth J, Bressman SB, Pramstaller PP, Riess O, Klein C.

Neurology. 2004 Feb 10;62(3):389-94.

PMID:
14872018
16.

Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements.

Scarciolla O, Brancati F, Valente EM, Ferraris A, De Angelis MV, Valbonesi S, Garavaglia B, Uncini A, Palka G, Stuppia L, Dallapiccola B.

Mov Disord. 2007 Nov 15;22(15):2274-8.

PMID:
17914726
17.

GCH1 in early-onset Parkinson's disease.

Cobb SA, Wider C, Ross OA, Mata IF, Adler CH, Rajput A, Rajput AH, Wu RM, Hauser R, Josephs KA, Carr J, Gwinn K, Heckman MG, Aasly JO, Lynch T, Uitti RJ, Wszolek ZK, Kapatos G, Farrer MJ.

Mov Disord. 2009 Oct 30;24(14):2070-5. doi: 10.1002/mds.22729.

PMID:
19735094
18.

PRKN, DJ-1, and PINK1 screening identifies novel splice site mutation in PRKN and two novel DJ-1 mutations.

Ghazavi F, Fazlali Z, Banihosseini SS, Hosseini SR, Kazemi MH, Shojaee S, Parsa K, Sadeghi H, Sina F, Rohani M, Shahidi GA, Ghaemi N, Ronaghi M, Elahi E.

Mov Disord. 2011 Jan;26(1):80-9. doi: 10.1002/mds.23417. Epub 2010 Nov 8.

PMID:
21322020
19.

Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism.

Guo JF, Zhang XW, Nie LL, Zhang HN, Liao B, Li J, Wang L, Yan XX, Tang BS.

J Neurol. 2010 Jul;257(7):1170-5. doi: 10.1007/s00415-010-5485-8. Epub 2010 Feb 10.

PMID:
20146068
20.

Mutation analysis for DJ-1 in sporadic and familial parkinsonism: screening strategy in parkinsonism.

Tomiyama H, Li Y, Yoshino H, Mizuno Y, Kubo S, Toda T, Hattori N.

Neurosci Lett. 2009 May 22;455(3):159-61. doi: 10.1016/j.neulet.2009.03.033. Epub 2009 Mar 16.

PMID:
19429112

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