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Items: 1 to 20 of 253

1.

Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe.

Blauwendraat C, Francescatto M, Gibbs JR, Jansen IE, Simón-Sánchez J, Hernandez DG, Dillman AA, Singleton AB, Cookson MR, Rizzu P, Heutink P.

Genome Med. 2016 Jun 10;8(1):65. doi: 10.1186/s13073-016-0320-1.

2.

PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism.

Giri A, Guven G, Hanagasi H, Hauser AK, Erginul-Unaltuna N, Bilgic B, Gurvit H, Heutink P, Gasser T, Lohmann E, Simón-Sánchez J.

Tremor Other Hyperkinet Mov (N Y). 2016 Mar 16;6:363. doi: 10.7916/D81G0M12. eCollection 2016.

3.

C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers.

Rizzu P, Blauwendraat C, Heetveld S, Lynes EM, Castillo-Lizardo M, Dhingra A, Pyz E, Hobert M, Synofzik M, Simón-Sánchez J, Francescatto M, Heutink P.

Acta Neuropathol Commun. 2016 Apr 14;4(1):37. doi: 10.1186/s40478-016-0306-7.

4.

Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease.

Lesage S, Bras J, Cormier-Dequaire F, Condroyer C, Nicolas A, Darwent L, Guerreiro R, Majounie E, Federoff M, Heutink P, Wood NW, Gasser T, Hardy J, Tison F, Singleton A, Brice A; French Parkinson's Disease Genetics Study Group (PDG) and the International Parkinson's Disease Genomics Consortium (IPDGC).

Neurol Genet. 2015 Jun 18;1(1):e9. doi: 10.1212/NXG.0000000000000009. eCollection 2015 Jun.

5.

Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data.

Mok KY, Sheerin U, Simón-Sánchez J, Salaka A, Chester L, Escott-Price V, Mantripragada K, Doherty KM, Noyce AJ, Mencacci NE, Lubbe SJ; International Parkinson's Disease Genomics Consortium (IPDGC), Williams-Gray CH, Barker RA, van Dijk KD, Berendse HW, Heutink P, Corvol JC, Cormier F, Lesage S, Brice A, Brockmann K, Schulte C, Gasser T, Foltynie T, Limousin P, Morrison KE, Clarke CE, Sawcer S, Warner TT, Lees AJ, Morris HR, Nalls MA, Singleton AB, Hardy J, Abramov AY, Plagnol V, Williams NM, Wood NW.

Lancet Neurol. 2016 May;15(6):585-96. doi: 10.1016/S1474-4422(16)00071-5. Epub 2016 Mar 24.

6.

A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family.

Hanagasi HA, Giri A, Kartal E, Guven G, Bilgiç B, Hauser AK, Emre M, Heutink P, Basak N, Gasser T, Simón-Sánchez J, Lohmann E.

Parkinsonism Relat Disord. 2016 Aug;29:117-20. doi: 10.1016/j.parkreldis.2016.03.001. Epub 2016 Mar 3.

PMID:
26972524
7.

Serum Levels of Progranulin Do Not Reflect Cerebrospinal Fluid Levels in Neurodegenerative Disease.

Wilke C, Gillardon F, Deuschle C, Dubois E, Hobert MA, Müller vom Hagen J, Krüger S, Biskup S, Blauwendraat C, Hruscha M, Kaeser SA, Heutink P, Maetzler W, Synofzik M.

Curr Alzheimer Res. 2016;13(6):654-62.

PMID:
26971930
8.

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.

Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destée A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A; French Parkinson's Disease Genetics Study (PDG); International Parkinson's Disease Genomics Consortium (IPDGC).

Am J Hum Genet. 2016 Mar 3;98(3):500-13. doi: 10.1016/j.ajhg.2016.01.014.

PMID:
26942284
9.

Reassessing the Evolutionary History of the 17q21 Inversion Polymorphism.

Alves JM, Lima AC, Pais IA, Amir N, Celestino R, Piras G, Monne M, Comas D, Heutink P, Chikhi L, Amorim A, Lopes AM.

Genome Biol Evol. 2015 Nov 11;7(12):3239-48. doi: 10.1093/gbe/evv214.

10.

Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants.

Blauwendraat C, Wilke C, Jansen IE, Schulte C, Simón-Sánchez J, Metzger FG, Bender B, Gasser T, Maetzler W, Rizzu P, Heutink P, Synofzik M.

Neurobiol Aging. 2016 Jan;37:208.e11-7. doi: 10.1016/j.neurobiolaging.2015.09.016. Epub 2015 Sep 30.

PMID:
26522186
11.

Is the MC1R variant p.R160W associated with Parkinson's?

Lubbe SJ, Escott-Price V, Brice A, Gasser T, Hardy J, Heutink P, Sharma M, Wood NW, Nalls M, Singleton AB, Williams NM, Morris HR; International Parkinson's Disease Genomics Consortium.

Ann Neurol. 2016 Jan;79(1):159-61. doi: 10.1002/ana.24527. Epub 2015 Dec 12. No abstract available.

PMID:
26389967
12.

Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study.

Nalls MA, McLean CY, Rick J, Eberly S, Hutten SJ, Gwinn K, Sutherland M, Martinez M, Heutink P, Williams NM, Hardy J, Gasser T, Brice A, Price TR, Nicolas A, Keller MF, Molony C, Gibbs JR, Chen-Plotkin A, Suh E, Letson C, Fiandaca MS, Mapstone M, Federoff HJ, Noyce AJ, Morris H, Van Deerlin VM, Weintraub D, Zabetian C, Hernandez DG, Lesage S, Mullins M, Conley ED, Northover CA, Frasier M, Marek K, Day-Williams AG, Stone DJ, Ioannidis JP, Singleton AB; Parkinson's Disease Biomarkers Program and Parkinson's Progression Marker Initiative investigators.

Lancet Neurol. 2015 Oct;14(10):1002-9. doi: 10.1016/S1474-4422(15)00178-7. Epub 2015 Aug 10.

PMID:
26271532
13.

Variation in PARK10 is not associated with risk and age at onset of Parkinson's disease in large clinical cohorts.

Simón-Sánchez J, Heutink P, Gasser T; International Parkinson's Disease Genomics Consortium (IPDGC).

Neurobiol Aging. 2015 Oct;36(10):2907.e13-7. doi: 10.1016/j.neurobiolaging.2015.07.008. Epub 2015 Jul 10.

PMID:
26260214
14.

Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome.

Kelmemi W, Teeuw ME, Bochdanovits Z, Ouburg S, Jonker MA, Alkuraya F, Hashem M, Kayserili H, van Haeringen A, Sheridan E, Masri A, Cobben JM, Rizzu P, Kostense PJ, Dommering CJ, Henneman L, Bouhamed-Chaabouni H, Heutink P, Ten Kate LP, Cornel MC.

BMC Med Genet. 2015 Jul 20;16:50. doi: 10.1186/s12881-015-0191-0.

15.

Evidence for Immune Response, Axonal Dysfunction and Reduced Endocytosis in the Substantia Nigra in Early Stage Parkinson's Disease.

Dijkstra AA, Ingrassia A, de Menezes RX, van Kesteren RE, Rozemuller AJ, Heutink P, van de Berg WD.

PLoS One. 2015 Jun 18;10(6):e0128651. doi: 10.1371/journal.pone.0128651. eCollection 2015.

16.

CHCHD2 and Parkinson's disease.

Jansen IE, Bras JM, Lesage S, Schulte C, Gibbs JR, Nalls MA, Brice A, Wood NW, Morris H, Hardy JA, Singleton AB, Gasser T, Heutink P, Sharma M; IPDGC.

Lancet Neurol. 2015 Jul;14(7):678-9. doi: 10.1016/S1474-4422(15)00094-0. No abstract available.

PMID:
26067110
17.

A common polymorphism in the ABCB1 gene is associated with side effects of PGP-dependent antidepressants in a large naturalistic Dutch cohort.

Bet PM, Verbeek EC, Milaneschi Y, Straver DB, Uithuisje T, Bevova MR, Hugtenburg JG, Heutink P, Penninx BW, Hoogendijk WJ.

Pharmacogenomics J. 2016 Apr;16(2):202-8. doi: 10.1038/tpj.2015.38. Epub 2015 May 19.

PMID:
25987242
18.

DGEclust: differential expression analysis of clustered count data.

Vavoulis DV, Francescatto M, Heutink P, Gough J.

Genome Biol. 2015 Feb 20;16:39. doi: 10.1186/s13059-015-0604-6.

19.

Polygenic risk of Parkinson disease is correlated with disease age at onset.

Escott-Price V; International Parkinson's Disease Genomics Consortium, Nalls MA, Morris HR, Lubbe S, Brice A, Gasser T, Heutink P, Wood NW, Hardy J, Singleton AB, Williams NM; IPDGC consortium members.

Ann Neurol. 2015 Apr;77(4):582-91. doi: 10.1002/ana.24335. Epub 2015 Mar 13.

20.

Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus.

Desikan RS, Schork AJ, Wang Y, Witoelar A, Sharma M, McEvoy LK, Holland D, Brewer JB, Chen CH, Thompson WK, Harold D, Williams J, Owen MJ, O'Donovan MC, Pericak-Vance MA, Mayeux R, Haines JL, Farrer LA, Schellenberg GD, Heutink P, Singleton AB, Brice A, Wood NW, Hardy J, Martinez M, Choi SH, DeStefano A, Ikram MA, Bis JC, Smith A, Fitzpatrick AL, Launer L, van Duijn C, Seshadri S, Ulstein ID, Aarsland D, Fladby T, Djurovic S, Hyman BT, Snaedal J, Stefansson H, Stefansson K, Gasser T, Andreassen OA, Dale AM; ADNI, ADGC, GERAD, CHARGE and IPDGC Investigators.

Mol Psychiatry. 2015 Dec;20(12):1588-95. doi: 10.1038/mp.2015.6. Epub 2015 Feb 17.

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