Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 33

1.

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.

van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernández I, van Eijk KR, Stringa N, Chen JA, Zettergren A, Andlauer TFM, Diez-Fairen M, Simon-Sanchez J, Lleó A, Zetterberg H, Nygaard M, Blauwendraat C, Savage JE, Mengel-From J, Moreno-Grau S, Wagner M, Fortea J, Keogh MJ, Blennow K, Skoog I, Friese MA, Pletnikova O, Zulaica M, Lage C, de Rojas I, Riedel-Heller S, Illán-Gala I, Wei W, Jeune B, Orellana A, Then Bergh F, Wang X, Hulsman M, Beker N, Tesi N, Morris CM, Indakoetxea B, Collij LE, Scherer M, Morenas-Rodríguez E, Ironside JW, van Berckel BNM, Alcolea D, Wiendl H, Strickland SL, Pastor P, Rodríguez Rodríguez E; DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank); EADB (Alzheimer Disease European DNA biobank); IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium); IPDGC (The International Parkinson Disease Genomics Consortium); RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia); Netherlands Brain Bank (NBB), Boeve BF, Petersen RC, Ferman TJ, van Gerpen JA, Reinders MJT, Uitti RJ, Tárraga L, Maier W, Dols-Icardo O, Kawalia A, Dalmasso MC, Boada M, Zettl UK, van Schoor NM, Beekman M, Allen M, Masliah E, de Munain AL, Pantelyat A, Wszolek ZK, Ross OA, Dickson DW, Graff-Radford NR, Knopman D, Rademakers R, Lemstra AW, Pijnenburg YAL, Scheltens P, Gasser T, Chinnery PF, Hemmer B, Huisman MA, Troncoso J, Moreno F, Nohr EA, Sørensen TIA, Heutink P, Sánchez-Juan P, Posthuma D; GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group, Clarimón J, Christensen K, Ertekin-Taner N, Scholz SW, Ramirez A, Ruiz A, Slagboom E, van der Flier WM, Holstege H.

Acta Neuropathol. 2019 May 27. doi: 10.1007/s00401-019-02026-8. [Epub ahead of print]

PMID:
31131421
2.

Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset.

Billingsley KJ, Barbosa IA, Bandrés-Ciga S, Quinn JP, Bubb VJ, Deshpande C, Botia JA, Reynolds RH, Zhang D, Simpson MA, Blauwendraat C, Gan-Or Z, Gibbs JR, Nalls MA, Singleton A; International Parkinson’s Disease Genomics Consortium (IPDGC), Ryten M, Koks S.

NPJ Parkinsons Dis. 2019 May 22;5:8. doi: 10.1038/s41531-019-0080-x. eCollection 2019.

3.

DNAJC proteins and pathways to parkinsonism.

Roosen DA, Blauwendraat C, Cookson MR, Lewis PA.

FEBS J. 2019 May 23. doi: 10.1111/febs.14936. [Epub ahead of print] Review.

PMID:
31120186
4.

Genome-wide estimates of heritability and genetic correlations in essential tremor.

Diez-Fairen M, Bandres-Ciga S, Houle G, Nalls MA, Girard SL, Dion PA, Blauwendraat C, Singleton AB, Rouleau GA, Pastor P.

Parkinsonism Relat Disord. 2019 May 4. pii: S1353-8020(19)30223-8. doi: 10.1016/j.parkreldis.2019.05.002. [Epub ahead of print]

PMID:
31085086
5.

Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanisms.

Blauwendraat C, Heilbron K, Vallerga CL, Bandres-Ciga S, von Coelln R, Pihlstrøm L, Simón-Sánchez J, Schulte C, Sharma M, Krohn L, Siitonen A, Iwaki H, Leonard H, Noyce AJ, Tan M, Gibbs JR, Hernandez DG, Scholz SW, Jankovic J, Shulman LM, Lesage S, Corvol JC, Brice A, van Hilten JJ, Marinus J; 23andMe Research Team, Eerola-Rautio J, Tienari P, Majamaa K, Toft M, Grosset DG, Gasser T, Heutink P, Shulman JM, Wood N, Hardy J, Morris HR, Hinds DA, Gratten J, Visscher PM, Gan-Or Z, Nalls MA, Singleton AB; International Parkinson's Disease Genomics Consortium (IPDGC).

Mov Disord. 2019 Apr 7. doi: 10.1002/mds.27659. [Epub ahead of print]

PMID:
30957308
6.

Assessment of APOE in atypical parkinsonism syndromes.

Sabir MS, Blauwendraat C, Ahmed S, Serrano GE, Beach TG, Perkins M, Rice AC, Masliah E, Morris CM, Pihlstrom L, Pantelyat A, Resnick SM, Cookson MR, Hernandez DG, Albert M, Dawson TM, Rosenthal LS, Houlden H, Pletnikova O, Troncoso J, Scholz SW.

Neurobiol Dis. 2019 Feb 21;127:142-146. doi: 10.1016/j.nbd.2019.02.016. [Epub ahead of print]

PMID:
30798004
7.

The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease.

Bandres-Ciga S, Saez-Atienzar S, Bonet-Ponce L, Billingsley K, Vitale D, Blauwendraat C, Gibbs JR, Pihlstrøm L, Gan-Or Z; International Parkinson's Disease Genomics Consortium (IPDGC), Cookson MR, Nalls MA, Singleton AB.

Mov Disord. 2019 Apr;34(4):460-468. doi: 10.1002/mds.27614. Epub 2019 Jan 24.

PMID:
30675927
8.

Genetic analysis of neurodegenerative diseases in a pathology cohort.

Blauwendraat C, Pletnikova O, Geiger JT, Murphy NA, Abramzon Y, Rudow G, Mamais A, Sabir MS, Crain B, Ahmed S, Rosenthal LS, Bakker CC, Faghri F, Chia R, Ding J, Dawson TM, Pantelyat A, Albert MS, Nalls MA, Resnick SM, Ferrucci L, Cookson MR, Hillis AE, Troncoso JC, Scholz SW.

Neurobiol Aging. 2019 Apr;76:214.e1-214.e9. doi: 10.1016/j.neurobiolaging.2018.11.007. Epub 2018 Nov 17.

PMID:
30528841
9.

Publisher Correction: Enhancers active in dopamine neurons are a primary link between genetic variation and neuropsychiatric disease.

Dong X, Liao Z, Gritsch D, Hadzhiev Y, Bai Y, Locascio JJ, Guennewig B, Liu G, Blauwendraat C, Wang T, Adler CH, Hedreen JC, Faull RLM, Frosch MP, Nelson PT, Rizzu P, Cooper AA, Heutink P, Beach TG, Mattick JS, Müller F, Scherzer CR.

Nat Neurosci. 2019 Jan;22(1):144-147. doi: 10.1038/s41593-018-0277-z.

PMID:
30482917
10.

The role of monogenic genes in idiopathic Parkinson's disease.

Reed X, Bandrés-Ciga S, Blauwendraat C, Cookson MR.

Neurobiol Dis. 2019 Apr;124:230-239. doi: 10.1016/j.nbd.2018.11.012. Epub 2018 Nov 15. Review.

PMID:
30448284
11.

MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease.

Juge PA, Lee JS, Ebstein E, Furukawa H, Dobrinskikh E, Gazal S, Kannengiesser C, Ottaviani S, Oka S, Tohma S, Tsuchiya N, Rojas-Serrano J, González-Pérez MI, Mejía M, Buendía-Roldán I, Falfán-Valencia R, Ambrocio-Ortiz E, Manali E, Papiris SA, Karageorgas T, Boumpas D, Antoniou K, van Moorsel CHM, van der Vis J, de Man YA, Grutters JC, Wang Y, Borie R, Wemeau-Stervinou L, Wallaert B, Flipo RM, Nunes H, Valeyre D, Saidenberg-Kermanac'h N, Boissier MC, Marchand-Adam S, Frazier A, Richette P, Allanore Y, Sibilia J, Dromer C, Richez C, Schaeverbeke T, Lioté H, Thabut G, Nathan N, Amselem S, Soubrier M, Cottin V, Clément A, Deane K, Walts AD, Fingerlin T, Fischer A, Ryu JH, Matteson EL, Niewold TB, Assayag D, Gross A, Wolters P, Schwarz MI, Holers M, Solomon JJ, Doyle T, Rosas IO, Blauwendraat C, Nalls MA, Debray MP, Boileau C, Crestani B, Schwartz DA, Dieudé P.

N Engl J Med. 2018 Dec 6;379(23):2209-2219. doi: 10.1056/NEJMoa1801562. Epub 2018 Oct 20.

12.

Coding variation in GBA explains the majority of the SYT11-GBA Parkinson's disease GWAS locus.

Blauwendraat C, Bras JM, Nalls MA, Lewis PA, Hernandez DG, Singleton AB; International Parkinson's Disease Genomics Consortium.

Mov Disord. 2018 Nov;33(11):1821-1823. doi: 10.1002/mds.103. Epub 2018 Oct 9. No abstract available.

13.

Enhancers active in dopamine neurons are a primary link between genetic variation and neuropsychiatric disease.

Dong X, Liao Z, Gritsch D, Hadzhiev Y, Bai Y, Locascio JJ, Guennewig B, Liu G, Blauwendraat C, Wang T, Adler CH, Hedreen JC, Faull RLM, Frosch MP, Nelson PT, Rizzu P, Cooper AA, Heutink P, Beach TG, Mattick JS, Müller F, Scherzer CR.

Nat Neurosci. 2018 Oct;21(10):1482-1492. doi: 10.1038/s41593-018-0223-0. Epub 2018 Sep 17. Erratum in: Nat Neurosci. 2019 Jan;22(1):144-147.

14.

A comprehensive analysis of SNCA-related genetic risk in sporadic parkinson disease.

Pihlstrøm L, Blauwendraat C, Cappelletti C, Berge-Seidl V, Langmyhr M, Henriksen SP, van de Berg WDJ, Gibbs JR, Cookson MR; International Parkinson Disease Genomics Consortium; North American Brain Expression Consortium, Singleton AB, Nalls MA, Toft M.

Ann Neurol. 2018 Jul;84(1):117-129. doi: 10.1002/ana.25274. Epub 2018 Aug 26.

PMID:
30146727
15.

Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.

Blauwendraat C, Reed X, Kia DA, Gan-Or Z, Lesage S, Pihlstrøm L, Guerreiro R, Gibbs JR, Sabir M, Ahmed S, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Hernandez DG, Chung SJ, Goldwurm S, Toft M, Schulte C, Bras J, Wood NW, Brice A, Morris HR, Scholz SW, Nalls MA, Singleton AB, Cookson MR; COURAGE-PD (Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease) Consortium, the French Parkinson’s Disease Consortium, and the International Parkinson’s Disease Genomics Consortium (IPDGC).

JAMA Neurol. 2018 Nov 1;75(11):1416-1422. doi: 10.1001/jamaneurol.2018.1885.

PMID:
30039155
16.

Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease.

Blauwendraat C, Kia DA, Pihlstrøm L, Gan-Or Z, Lesage S, Gibbs JR, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Chung SJ, Goldwurm S, Toft M, Schulte C; International Parkinson's Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium, Hernandez D, Singleton AB, Nalls MA, Brice A, Scholz SW, Wood NW.

Neurobiol Aging. 2018 Apr;64:159.e5-159.e8. doi: 10.1016/j.neurobiolaging.2017.12.012. Epub 2017 Dec 20.

17.

TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia.

Geiger JT, Schindler AB, Blauwendraat C, Singer HS, Scholz SW.

Case Rep Neurol. 2017 Aug 31;9(2):216-221. doi: 10.1159/000479788. eCollection 2017 May-Aug.

18.

Predicting progression in patients with Parkinson's disease.

Blauwendraat C, Bandrés-Ciga S, Singleton AB.

Lancet Neurol. 2017 Nov;16(11):860-862. doi: 10.1016/S1474-4422(17)30331-9. Epub 2017 Sep 25. No abstract available.

19.

The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.

Blauwendraat C, Wilke C, Simón-Sánchez J, Jansen IE, Reifschneider A, Capell A, Haass C, Castillo-Lizardo M, Biskup S, Maetzler W, Rizzu P, Heutink P, Synofzik M.

Genet Med. 2018 Feb;20(2):240-249. doi: 10.1038/gim.2017.102. Epub 2017 Jul 27.

20.

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases.

Blauwendraat C, Faghri F, Pihlstrom L, Geiger JT, Elbaz A, Lesage S, Corvol JC, May P, Nicolas A, Abramzon Y, Murphy NA, Gibbs JR, Ryten M, Ferrari R, Bras J, Guerreiro R, Williams J, Sims R, Lubbe S, Hernandez DG, Mok KY, Robak L, Campbell RH, Rogaeva E, Traynor BJ, Chia R, Chung SJ; International Parkinson's Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium, Hardy JA, Brice A, Wood NW, Houlden H, Shulman JM, Morris HR, Gasser T, Krüger R, Heutink P, Sharma M, Simón-Sánchez J, Nalls MA, Singleton AB, Scholz SW.

Neurobiol Aging. 2017 Sep;57:247.e9-247.e13. doi: 10.1016/j.neurobiolaging.2017.05.009. Epub 2017 May 17.

21.

Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases.

Witoelar A, Jansen IE, Wang Y, Desikan RS, Gibbs JR, Blauwendraat C, Thompson WK, Hernandez DG, Djurovic S, Schork AJ, Bettella F, Ellinghaus D, Franke A, Lie BA, McEvoy LK, Karlsen TH, Lesage S, Morris HR, Brice A, Wood NW, Heutink P, Hardy J, Singleton AB, Dale AM, Gasser T, Andreassen OA, Sharma M; International Parkinson’s Disease Genomics Consortium (IPDGC), North American Brain Expression Consortium (NABEC), and United Kingdom Brain Expression Consortium (UKBEC) Investigators.

JAMA Neurol. 2017 Jul 1;74(7):780-792. doi: 10.1001/jamaneurol.2017.0469.

22.

Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson's disease on chromosome 7p15.3.

Murthy MN, Blauwendraat C; UKBEC, Guelfi S; IPDGC, Hardy J, Lewis PA, Trabzuni D.

Neurogenetics. 2017 Jul;18(3):121-133. doi: 10.1007/s10048-017-0514-8. Epub 2017 Apr 8.

23.

The clinical, neuroanatomical, and neuropathologic phenotype of TBK1-associated frontotemporal dementia: A longitudinal case report.

Koriath CA, Bocchetta M, Brotherhood E, Woollacott IO, Norsworthy P, Simón-Sánchez J, Blauwendraat C, Dick KM, Gordon E, Harding SR, Fox NC, Crutch S, Warren JD, Revesz T, Lashley T, Mead S, Rohrer JD.

Alzheimers Dement (Amst). 2016 Nov 3;6:75-81. doi: 10.1016/j.dadm.2016.10.003. eCollection 2017.

24.

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.

Jansen IE, Ye H, Heetveld S, Lechler MC, Michels H, Seinstra RI, Lubbe SJ, Drouet V, Lesage S, Majounie E, Gibbs JR, Nalls MA, Ryten M, Botia JA, Vandrovcova J, Simon-Sanchez J, Castillo-Lizardo M, Rizzu P, Blauwendraat C, Chouhan AK, Li Y, Yogi P, Amin N, van Duijn CM; International Parkinson’s Disease Genetics Consortium (IPGDC), Morris HR, Brice A, Singleton AB, David DC, Nollen EA, Jain S, Shulman JM, Heutink P.

Genome Biol. 2017 Jan 30;18(1):22. doi: 10.1186/s13059-017-1147-9.

25.

ADORA1 mutations are not a common cause of Parkinson's disease and dementia with Lewy bodies.

Blauwendraat C, Nalls MA, Federoff M, Pletnikova O, Ding J, Letson C, Geiger JT, Gibbs JR, Hernandez DG, Troncoso JC, Simón-Sánchez J, Scholz SW; International Parkinson's Disease Genomics Consortium.

Mov Disord. 2017 Feb;32(2):298-299. doi: 10.1002/mds.26886. Epub 2016 Dec 17. No abstract available.

26.

Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia.

Wilke C, Gillardon F, Deuschle C, Hobert MA, Jansen IE, Metzger FG, Heutink P, Gasser T, Maetzler W, Blauwendraat C, Synofzik M.

Neurodegener Dis. 2017;17(2-3):83-88. doi: 10.1159/000448896. Epub 2016 Oct 20.

PMID:
27760429
27.

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.

28.

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.

29.

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
30.

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.e11-208.e17. doi: 10.1016/j.neurobiolaging.2015.09.016. Epub 2015 Sep 30.

PMID:
26522186
31.

Detection and serotyping of pneumococci in community acquired pneumonia patients without culture using blood and urine samples.

Elberse K, van Mens S, Cremers AJ, Meijvis SC, Vlaminckx B, de Jonge MI, Meis JF, Blauwendraat C, van de Pol I, Schouls LM.

BMC Infect Dis. 2015 Feb 13;15:56. doi: 10.1186/s12879-015-0788-0.

32.

Molecular fingerprinting of Mycobacterium abscessus strains in a cohort of pediatric cystic fibrosis patients.

Harris KA, Kenna DT, Blauwendraat C, Hartley JC, Turton JF, Aurora P, Dixon GL.

J Clin Microbiol. 2012 May;50(5):1758-61. doi: 10.1128/JCM.00155-12. Epub 2012 Mar 7.

33.

The use of a two-gene sequencing approach to accurately distinguish between the species within the Mycobacterium abscessus complex and Mycobacterium chelonae.

Blauwendraat C, Dixon GL, Hartley JC, Foweraker J, Harris KA.

Eur J Clin Microbiol Infect Dis. 2012 Aug;31(8):1847-53. doi: 10.1007/s10096-011-1510-9. Epub 2012 Jan 6.

PMID:
22222989

Supplemental Content

Loading ...
Support Center