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Items: 1 to 20 of 183

1.

Genetic Mutation Analysis of Parkinson's Disease Patients Using Multigene Next-Generation Sequencing Panels.

Gorostidi A, Martí-Massó JF, Bergareche A, Rodríguez-Oroz MC, López de Munain A, Ruiz-Martínez J.

Mol Diagn Ther. 2016 Oct;20(5):481-91. doi: 10.1007/s40291-016-0216-1.

PMID:
27294386
2.

Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.

Benitez BA, Davis AA, Jin SC, Ibanez L, Ortega-Cubero S, Pastor P, Choi J, Cooper B, Perlmutter JS, Cruchaga C.

Mol Neurodegener. 2016 Apr 19;11:29. doi: 10.1186/s13024-016-0097-0.

3.

The genetic landscape of Parkinson's disease.

Lunati A, Lesage S, Brice A.

Rev Neurol (Paris). 2018 Nov;174(9):628-643. doi: 10.1016/j.neurol.2018.08.004. Epub 2018 Sep 21. Review.

PMID:
30245141
4.

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
5.

Genetics of Parkinson's disease--state of the art, 2013.

Bonifati V.

Parkinsonism Relat Disord. 2014 Jan;20 Suppl 1:S23-8. doi: 10.1016/S1353-8020(13)70009-9. Review.

PMID:
24262182
6.

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. Epub 2012 Jul 18. Review.

7.

The GBA variant E326K is associated with Parkinson's disease and explains a genome-wide association signal.

Berge-Seidl V, Pihlstrøm L, Maple-Grødem J, Forsgren L, Linder J, Larsen JP, Tysnes OB, Toft M.

Neurosci Lett. 2017 Sep 29;658:48-52. doi: 10.1016/j.neulet.2017.08.040. Epub 2017 Aug 19.

PMID:
28830825
8.

Autosomal dominant Parkinson's disease: Incidence of mutations in LRRK2, SNCA, VPS35 and GBA genes in Brazil.

Abreu GM, Valença DC, Campos M Júnior, da Silva CP, Pereira JS, Araujo Leite MA, Rosso AL, Nicaretta DH, Vasconcellos LF, da Silva DJ, Della Coletta MV, Dos Santos JM, Gonçalves AP, Santos-Rebouças CB, Pimentel MM.

Neurosci Lett. 2016 Dec 2;635:67-70. doi: 10.1016/j.neulet.2016.10.040. Epub 2016 Oct 21.

PMID:
27777137
9.

Genetics of Parkinson's disease: the yield.

Spatola M, Wider C.

Parkinsonism Relat Disord. 2014 Jan;20 Suppl 1:S35-8. doi: 10.1016/S1353-8020(13)70011-7. Review.

PMID:
24262184
10.

Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population.

Liu X, Cheng R, Verbitsky M, Kisselev S, Browne A, Mejia-Sanatana H, Louis ED, Cote LJ, Andrews H, Waters C, Ford B, Frucht S, Fahn S, Marder K, Clark LN, Lee JH.

BMC Med Genet. 2011 Aug 3;12:104. doi: 10.1186/1471-2350-12-104.

11.

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
12.

LRRK2 is not a significant cause of Parkinson's disease in French-Canadians.

Dupré N, Rivière JB, Myers RH, Provencher P, Pourcher E, Emond F, Rouleau GA.

Can J Neurol Sci. 2007 Aug;34(3):333-5.

PMID:
17803032
13.

Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutations.

Puschmann A.

Parkinsonism Relat Disord. 2013 Apr;19(4):407-15. doi: 10.1016/j.parkreldis.2013.01.020. Epub 2013 Feb 23. Review.

PMID:
23462481
14.

Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort.

Crosiers D, Verstraeten A, Wauters E, Engelborghs S, Peeters K, Mattheijssens M, De Deyn PP, Theuns J, Van Broeckhoven C, Cras P.

Neurosci Lett. 2016 Aug 26;629:160-164. doi: 10.1016/j.neulet.2016.07.008. Epub 2016 Jul 7.

PMID:
27397011
15.

Comprehensive LRRK2 and GBA screening in Portuguese patients with Parkinson's disease: identification of a new family with the LRRK2 p.Arg1441His mutation and novel missense variants.

Zhang L, Quadri M, Guedes LC, Coelho M, Valadas A, Mestre T, Lobo PP, Rosa MM, Simons E, Oostra BA, Ferreira JJ, Bonifati V.

Parkinsonism Relat Disord. 2013 Oct;19(10):897-900. doi: 10.1016/j.parkreldis.2013.05.003. Epub 2013 May 28.

PMID:
23726462
16.

Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.

Gu Y, Lu K, Yang G, Cen Z, Yu L, Lin L, Hao J, Yang Z, Peng J, Cui S, Huang J.

PLoS One. 2014 Apr 4;9(4):e94100. doi: 10.1371/journal.pone.0094100. eCollection 2014.

17.

Identification of novel variants in LRRK2 gene in patients with Parkinson's disease in Serbian population.

Janković MZ, Kresojević ND, Dobričić VS, Marković VV, Petrović IN, Novaković IV, Kostić VS.

J Neurol Sci. 2015;353(1-2):59-62. doi: 10.1016/j.jns.2015.04.002. Epub 2015 Apr 12.

PMID:
25899316
18.

LRRK2 gene in Parkinson disease: mutation analysis and case control association study.

Paisán-Ruíz C, Lang AE, Kawarai T, Sato C, Salehi-Rad S, Fisman GK, Al-Khairallah T, St George-Hyslop P, Singleton A, Rogaeva E.

Neurology. 2005 Sep 13;65(5):696-700.

PMID:
16157901
19.

Mutations in the glucocerebrosidase gene are common in patients with Parkinson's disease from Eastern Canada.

Han F, Grimes DA, Li F, Wang T, Yu Z, Song N, Wu S, Racacho L, Bulman DE.

Int J Neurosci. 2016;126(5):415-21. doi: 10.3109/00207454.2015.1023436. Epub 2015 Aug 18.

PMID:
26000814
20.

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

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