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Items: 19

1.

Identification of genetic modifiers of age-at-onset for familial Parkinson's disease.

Hill-Burns EM, Ross OA, Wissemann WT, Soto-Ortolaza AI, Zareparsi S, Siuda J, Lynch T, Wszolek ZK, Silburn PA, Mellick GD, Ritz B, Scherzer CR, Zabetian CP, Factor SA, Breheny PJ, Payami H.

Hum Mol Genet. 2016 Sep 1;25(17):3849-3862. doi: 10.1093/hmg/ddw206.

2.

Greater improvement in LRRK2 G2019S patients undergoing Subthalamic Nucleus Deep Brain Stimulation compared to non-mutation carriers.

Sayad M, Zouambia M, Chaouch M, Ferrat F, Nebbal M, Bendini M, Lesage S, Brice A, Brahim Errahmani M, Asselah B.

BMC Neurosci. 2016 Feb 1;17:6. doi: 10.1186/s12868-016-0240-4.

3.

Parkin (PARK 2) mutations are rare in Czech patients with early-onset Parkinson's disease.

Fiala O, Zahorakova D, Pospisilova L, Kucerova J, Matejckova M, Martasek P, Roth J, Ruzicka E.

PLoS One. 2014 Sep 19;9(9):e107585. doi: 10.1371/journal.pone.0107585.

4.

Analysis of Dosage Mutation in PARK2 among Korean Patients with Early-Onset or Familial Parkinson's Disease.

Chu MK, Kim WC, Choi JM, Hong JH, Kang SY, Ma HI, Kim YJ.

J Clin Neurol. 2014 Jul;10(3):244-8. doi: 10.3988/jcn.2014.10.3.244. Erratum in: J Clin Neurol. 2015 Jan;11(1):107.

5.

Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.

Oczkowska A, Kozubski W, Lianeri M, Dorszewska J.

Curr Genomics. 2013 Dec;14(8):502-17. doi: 10.2174/1389202914666131210205839.

6.

Cognitive and motor function in long-duration PARKIN-associated Parkinson disease.

Alcalay RN, Caccappolo E, Mejia-Santana H, Tang MX, Rosado L, Orbe Reilly M, Ruiz D, Louis ED, Comella CL, Nance MA, Bressman SB, Scott WK, Tanner CM, Mickel SF, Waters CH, Fahn S, Cote LJ, Frucht SJ, Ford B, Rezak M, Novak KE, Friedman JH, Pfeiffer RF, Marsh L, Hiner B, Payami H, Molho E, Factor SA, Nutt JG, Serrano C, Arroyo M, Ottman R, Pauciulo MW, Nichols WC, Clark LN, Marder KS.

JAMA Neurol. 2014 Jan;71(1):62-7. doi: 10.1001/jamaneurol.2013.4498.

7.

The genetics and neuropathology of Parkinson's disease.

Houlden H, Singleton AB.

Acta Neuropathol. 2012 Sep;124(3):325-38. doi: 10.1007/s00401-012-1013-5. Review.

8.

Gene-environment interactions: key to unraveling the mystery of Parkinson's disease.

Gao HM, Hong JS.

Prog Neurobiol. 2011 Jun;94(1):1-19. doi: 10.1016/j.pneurobio.2011.03.005. Review.

9.

Olfaction in Parkin heterozygotes and compound heterozygotes: the CORE-PD study.

Alcalay RN, Siderowf A, Ottman R, Caccappolo E, Mejia-Santana H, Tang MX, Rosado L, Louis E, Ruiz D, Waters C, Fahn S, Cote L, Frucht S, Ford B, Orbe-Reilly M, Ross B, Verbitsky M, Kisselev S, Comella C, Colcher A, Jennings D, Nance M, Bressman S, Scott WK, Tanner C, Mickel S, Rezak M, Novak KE, Friedman JH, Pfeiffer R, Marsh L, Hiner B, Clark LN, Marder K.

Neurology. 2011 Jan 25;76(4):319-26. doi: 10.1212/WNL.0b013e31820882aa.

10.

A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2.

Kay DM, Stevens CF, Hamza TH, Montimurro JS, Zabetian CP, Factor SA, Samii A, Griffith A, Roberts JW, Molho ES, Higgins DS, Gancher S, Moses L, Zareparsi S, Poorkaj P, Bird T, Nutt J, Schellenberg GD, Payami H.

Neurology. 2010 Sep 28;75(13):1189-94. doi: 10.1212/WNL.0b013e3181f4d832.

11.

Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study.

Marder KS, Tang MX, Mejia-Santana H, Rosado L, Louis ED, Comella CL, Colcher A, Siderowf AD, Jennings D, Nance MA, Bressman S, Scott WK, Tanner CM, Mickel SF, Andrews HF, Waters C, Fahn S, Ross BM, Cote LJ, Frucht S, Ford B, Alcalay RN, Rezak M, Novak K, Friedman JH, Pfeiffer RF, Marsh L, Hiner B, Neils GD, Verbitsky M, Kisselev S, Caccappolo E, Ottman R, Clark LN.

Arch Neurol. 2010 Jun;67(6):731-8. doi: 10.1001/archneurol.2010.95.

12.

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.

13.

Parkin selectively alters the intrinsic threshold for mitochondrial cytochrome c release.

Berger AK, Cortese GP, Amodeo KD, Weihofen A, Letai A, LaVoie MJ.

Hum Mol Genet. 2009 Nov 15;18(22):4317-28. doi: 10.1093/hmg/ddp384.

14.

Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations.

Pankratz N, Kissell DK, Pauciulo MW, Halter CA, Rudolph A, Pfeiffer RF, Marder KS, Foroud T, Nichols WC; Parkinson Study Group-PROGENI Investigators..

Neurology. 2009 Jul 28;73(4):279-86. doi: 10.1212/WNL.0b013e3181af7a33.

15.

Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control.

Brooks J, Ding J, Simon-Sanchez J, Paisan-Ruiz C, Singleton AB, Scholz SW.

J Med Genet. 2009 Jun;46(6):375-81. doi: 10.1136/jmg.2008.063917.

16.

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.

17.

Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts.

Mortiboys H, Thomas KJ, Koopman WJ, Klaffke S, Abou-Sleiman P, Olpin S, Wood NW, Willems PH, Smeitink JA, Cookson MR, Bandmann O.

Ann Neurol. 2008 Nov;64(5):555-65. doi: 10.1002/ana.21492.

18.

PINK1 mutations and parkinsonism.

Ishihara-Paul L, Hulihan MM, Kachergus J, Upmanyu R, Warren L, Amouri R, Elango R, Prinjha RK, Soto A, Kefi M, Zouari M, Sassi SB, Yahmed SB, El Euch-Fayeche G, Matthews PM, Middleton LT, Gibson RA, Hentati F, Farrer MJ.

Neurology. 2008 Sep 16;71(12):896-902. doi: 10.1212/01.wnl.0000323812.40708.1f.

19.

Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method.

Wang Y, Clark LN, Louis ED, Mejia-Santana H, Harris J, Cote LJ, Waters C, Andrews H, Ford B, Frucht S, Fahn S, Ottman R, Rabinowitz D, Marder K.

Arch Neurol. 2008 Apr;65(4):467-74. doi: 10.1001/archneur.65.4.467.

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