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Items: 37

1.

Whole blood transcriptome analysis in amyotrophic lateral sclerosis: A biomarker study.

van Rheenen W, Diekstra FP, Harschnitz O, Westeneng HJ, van Eijk KR, Saris CGJ, Groen EJN, van Es MA, Blauw HM, van Vught PWJ, Veldink JH, van den Berg LH.

PLoS One. 2018 Jun 25;13(6):e0198874. doi: 10.1371/journal.pone.0198874. eCollection 2018.

2.

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study.

van Doormaal PT, Ticozzi N, Gellera C, Ratti A, Taroni F, Chiò A, Calvo A, Mora G, Restagno G, Traynor BJ, Birve A, Lemmens R, van Es MA, Saris CG, Blauw HM, van Vught PW, Groen EJ, Corrado L, Mazzini L, Del Bo R, Corti S, Waibel S, Meyer T, Ludolph AC, Goris A, van Damme P, Robberecht W, Shatunov A, Fogh I, Andersen PM, D'Alfonso S, Hardiman O, Cronin S, Rujescu D, Al-Chalabi A, Landers JE, Silani V, van den Berg LH, Veldink JH.

Neurobiol Aging. 2014 Oct;35(10):2420.e13-4. doi: 10.1016/j.neurobiolaging.2014.04.014. Epub 2014 Apr 19.

3.

Gene expression profile of SOD1-G93A mouse spinal cord, blood and muscle.

Saris CG, Groen EJ, van Vught PW, van Es MA, Blauw HM, Veldink JH, van den Berg LH.

Amyotroph Lateral Scler Frontotemporal Degener. 2013 Apr;14(3):190-8. doi: 10.3109/21678421.2012.749914. Epub 2013 Jan 8.

PMID:
23298163
4.

Screening for rare variants in the coding region of ALS-associated genes at 9p21.2 and 19p13.3.

Koppers M, Groen EJ, van Vught PW, van Rheenen W, Witteveen E, van Es MA, Pasterkamp RJ, van den Berg LH, Veldink JH.

Neurobiol Aging. 2013 May;34(5):1518.e5-7. doi: 10.1016/j.neurobiolaging.2012.09.018. Epub 2012 Nov 8.

PMID:
23141412
5.

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis.

van Rheenen W, Diekstra FP, van Doormaal PT, Seelen M, Kenna K, McLaughlin R, Shatunov A, Czell D, van Es MA, van Vught PW, van Damme P, Smith BN, Waibel S, Schelhaas HJ, van der Kooi AJ, de Visser M, Weber M, Robberecht W, Hardiman O, Shaw PJ, Shaw CE, Morrison KE, Al-Chalabi A, Andersen PM, Ludolph AC, Veldink JH, van den Berg LH.

Neurobiol Aging. 2013 May;34(5):1517.e5-7. doi: 10.1016/j.neurobiolaging.2012.07.020. Epub 2012 Oct 11.

PMID:
23063643
6.

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

Ahmeti KB, Ajroud-Driss S, Al-Chalabi A, Andersen PM, Armstrong J, Birve A, Blauw HM, Brown RH, Bruijn L, Chen W, Chio A, Comeau MC, Cronin S, Diekstra FP, Soraya Gkazi A, Glass JD, Grab JD, Groen EJ, Haines JL, Hardiman O, Heller S, Huang J, Hung WY; ITALSGEN consortium, Jaworski JM, Jones A, Khan H, Landers JE, Langefeld CD, Leigh PN, Marion MC, McLaughlin RL, Meininger V, Melki J, Miller JW, Mora G, Pericak-Vance MA, Rampersaud E, Robberecht W, Russell LP, Salachas F, Saris CG, Shatunov A, Shaw CE, Siddique N, Siddique T, Smith BN, Sufit R, Topp S, Traynor BJ, Vance C, van Damme P, van den Berg LH, van Es MA, van Vught PW, Veldink JH, Yang Y, Zheng JG; ALSGEN Consortium.

Neurobiol Aging. 2013 Jan;34(1):357.e7-19. doi: 10.1016/j.neurobiolaging.2012.07.017. Epub 2012 Sep 5.

7.

EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans.

Van Hoecke A, Schoonaert L, Lemmens R, Timmers M, Staats KA, Laird AS, Peeters E, Philips T, Goris A, Dubois B, Andersen PM, Al-Chalabi A, Thijs V, Turnley AM, van Vught PW, Veldink JH, Hardiman O, Van Den Bosch L, Gonzalez-Perez P, Van Damme P, Brown RH Jr, van den Berg LH, Robberecht W.

Nat Med. 2012 Sep;18(9):1418-22.

PMID:
22922411
8.

Mutations in the TRPV4 gene are not associated with sporadic progressive muscular atrophy.

Vlam L, Schelhaas HJ, van Blitterswijk M, van Vught PW, de Visser M, van der Kooi AJ, van der Pol WL, van den Berg LH.

Arch Neurol. 2012 Jun;69(6):790-1. doi: 10.1001/archneurol.2012.148. No abstract available.

PMID:
22689196
9.

Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.

Diekstra FP, Saris CG, van Rheenen W, Franke L, Jansen RC, van Es MA, van Vught PW, Blauw HM, Groen EJ, Horvath S, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, Robberecht W, Andersen PM, Melki J, Meininger V, Hardiman O, Landers JE, Brown RH Jr, Shatunov A, Shaw CE, Leigh PN, Al-Chalabi A, Ophoff RA, van den Berg LH, Veldink JH.

PLoS One. 2012;7(4):e35333. doi: 10.1371/journal.pone.0035333. Epub 2012 Apr 11.

10.

NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis.

Blauw HM, van Rheenen W, Koppers M, Van Damme P, Waibel S, Lemmens R, van Vught PW, Meyer T, Schulte C, Gasser T, Cuppen E, Pasterkamp RJ, Robberecht W, Ludolph AC, Veldink JH, van den Berg LH.

Hum Mol Genet. 2012 Jun 1;21(11):2497-502. doi: 10.1093/hmg/dds064. Epub 2012 Feb 28.

PMID:
22378146
11.

Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients.

van Blitterswijk M, Blokhuis A, van Es MA, van Vught PW, Rowicka PA, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH, van den Berg LH.

Neurobiol Aging. 2012 Aug;33(8):1845.e1-3. doi: 10.1016/j.neurobiolaging.2012.01.007. Epub 2012 Feb 11.

PMID:
22330174
12.

SMN1 gene duplications are associated with sporadic ALS.

Blauw HM, Barnes CP, van Vught PW, van Rheenen W, Verheul M, Cuppen E, Veldink JH, van den Berg LH.

Neurology. 2012 Mar 13;78(11):776-80. doi: 10.1212/WNL.0b013e318249f697. Epub 2012 Feb 8.

13.

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis.

van Es MA, Schelhaas HJ, van Vught PW, Ticozzi N, Andersen PM, Groen EJ, Schulte C, Blauw HM, Koppers M, Diekstra FP, Fumoto K, LeClerc AL, Keagle P, Bloem BR, Scheffer H, van Nuenen BF, van Blitterswijk M, van Rheenen W, Wills AM, Lowe PP, Hu GF, Yu W, Kishikawa H, Wu D, Folkerth RD, Mariani C, Goldwurm S, Pezzoli G, Van Damme P, Lemmens R, Dahlberg C, Birve A, Fernández-Santiago R, Waibel S, Klein C, Weber M, van der Kooi AJ, de Visser M, Verbaan D, van Hilten JJ, Heutink P, Hennekam EA, Cuppen E, Berg D, Brown RH Jr, Silani V, Gasser T, Ludolph AC, Robberecht W, Ophoff RA, Veldink JH, Pasterkamp RJ, de Bakker PI, Landers JE, van de Warrenburg BP, van den Berg LH.

Ann Neurol. 2011 Dec;70(6):964-73. doi: 10.1002/ana.22611. Review.

14.

UNC13A is a modifier of survival in amyotrophic lateral sclerosis.

Diekstra FP, van Vught PW, van Rheenen W, Koppers M, Pasterkamp RJ, van Es MA, Schelhaas HJ, de Visser M, Robberecht W, Van Damme P, Andersen PM, van den Berg LH, Veldink JH.

Neurobiol Aging. 2012 Mar;33(3):630.e3-8. doi: 10.1016/j.neurobiolaging.2011.10.029. Epub 2011 Nov 25.

PMID:
22118904
15.

VCP mutations in familial and sporadic amyotrophic lateral sclerosis.

Koppers M, van Blitterswijk MM, Vlam L, Rowicka PA, van Vught PW, Groen EJ, Spliet WG, Engelen-Lee J, Schelhaas HJ, de Visser M, van der Kooi AJ, van der Pol WL, Pasterkamp RJ, Veldink JH, van den Berg LH.

Neurobiol Aging. 2012 Apr;33(4):837.e7-13. doi: 10.1016/j.neurobiolaging.2011.10.006. Epub 2011 Nov 10.

PMID:
22078486
16.

Multifocal motor neuropathy is not associated with genetic variation in PTPN22, BANK1, Blk, FCGR2B, CD1A/E, and TAG-1 genes.

Vlam L, Cats EA, Seelen M, van Vught PW, van den Berg LH, van der Pol WL.

J Peripher Nerv Syst. 2011 Sep;16(3):175-9. doi: 10.1111/j.1529-8027.2011.00354.x.

PMID:
22003931
17.

Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients.

van Blitterswijk M, van Vught PW, van Es MA, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH, van den Berg LH.

Neurobiol Aging. 2012 May;33(5):1016.e1-7. doi: 10.1016/j.neurobiolaging.2011.05.019. Epub 2011 Jul 28.

PMID:
21802176
18.

Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2.

Van Damme P, Veldink JH, van Blitterswijk M, Corveleyn A, van Vught PW, Thijs V, Dubois B, Matthijs G, van den Berg LH, Robberecht W.

Neurology. 2011 Jun 14;76(24):2066-72. doi: 10.1212/WNL.0b013e31821f445b. Epub 2011 May 11.

PMID:
21562247
19.

A large genome scan for rare CNVs in amyotrophic lateral sclerosis.

Blauw HM, Al-Chalabi A, Andersen PM, van Vught PW, Diekstra FP, van Es MA, Saris CG, Groen EJ, van Rheenen W, Koppers M, Van't Slot R, Strengman E, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, Kiemeney LA, Vermeulen SH, Birve A, Waibel S, Meyer T, Cronin S, McLaughlin RL, Hardiman O, Sapp PC, Tobin MD, Wain LV, Tomik B, Slowik A, Lemmens R, Rujescu D, Schulte C, Gasser T, Brown RH Jr, Landers JE, Robberecht W, Ludolph AC, Ophoff RA, Veldink JH, van den Berg LH.

Hum Mol Genet. 2010 Oct 15;19(20):4091-9. doi: 10.1093/hmg/ddq323. Epub 2010 Aug 4.

PMID:
20685689
20.

P413L CHGB is not associated with ALS susceptibility or age at onset in a Dutch population.

van Vught PW, Veldink JH, van den Berg LH.

Proc Natl Acad Sci U S A. 2010 May 11;107(19):E77; author reply E78. doi: 10.1073/pnas.1002512107. Epub 2010 Apr 29. No abstract available.

21.

FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands.

Groen EJ, van Es MA, van Vught PW, Spliet WG, van Engelen-Lee J, de Visser M, Wokke JH, Schelhaas HJ, Ophoff RA, Fumoto K, Pasterkamp RJ, Dooijes D, Cuppen E, Veldink JH, van den Berg LH.

Arch Neurol. 2010 Feb;67(2):224-30. doi: 10.1001/archneurol.2009.329.

PMID:
20142531
22.

Analysis of FGGY as a risk factor for sporadic amyotrophic lateral sclerosis.

Van Es MA, Van Vught PW, Veldink JH, Andersen PM, Birve A, Lemmens R, Cronin S, Van Der Kooi AJ, De Visser M, Schelhaas HJ, Hardiman O, Ragoussis I, Lambrechts D, Robberecht W, Wokke JH, Ophoff RA, Van Den Berg LH.

Amyotroph Lateral Scler. 2009 Oct-Dec;10(5-6):441-7. doi: 10.3109/17482960802673042.

PMID:
19922138
23.

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.

van Es MA, Veldink JH, Saris CG, Blauw HM, van Vught PW, Birve A, Lemmens R, Schelhaas HJ, Groen EJ, Huisman MH, van der Kooi AJ, de Visser M, Dahlberg C, Estrada K, Rivadeneira F, Hofman A, Zwarts MJ, van Doormaal PT, Rujescu D, Strengman E, Giegling I, Muglia P, Tomik B, Slowik A, Uitterlinden AG, Hendrich C, Waibel S, Meyer T, Ludolph AC, Glass JD, Purcell S, Cichon S, Nöthen MM, Wichmann HE, Schreiber S, Vermeulen SH, Kiemeney LA, Wokke JH, Cronin S, McLaughlin RL, Hardiman O, Fumoto K, Pasterkamp RJ, Meininger V, Melki J, Leigh PN, Shaw CE, Landers JE, Al-Chalabi A, Brown RH Jr, Robberecht W, Andersen PM, Ophoff RA, van den Berg LH.

Nat Genet. 2009 Oct;41(10):1083-7. doi: 10.1038/ng.442. Epub 2009 Sep 6.

PMID:
19734901
24.

Weighted gene co-expression network analysis of the peripheral blood from Amyotrophic Lateral Sclerosis patients.

Saris CG, Horvath S, van Vught PW, van Es MA, Blauw HM, Fuller TF, Langfelder P, DeYoung J, Wokke JH, Veldink JH, van den Berg LH, Ophoff RA.

BMC Genomics. 2009 Aug 27;10:405. doi: 10.1186/1471-2164-10-405.

25.

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.

Landers JE, Melki J, Meininger V, Glass JD, van den Berg LH, van Es MA, Sapp PC, van Vught PW, McKenna-Yasek DM, Blauw HM, Cho TJ, Polak M, Shi L, Wills AM, Broom WJ, Ticozzi N, Silani V, Ozoguz A, Rodriguez-Leyva I, Veldink JH, Ivinson AJ, Saris CG, Hosler BA, Barnes-Nessa A, Couture N, Wokke JH, Kwiatkowski TJ Jr, Ophoff RA, Cronin S, Hardiman O, Diekstra FP, Leigh PN, Shaw CE, Simpson CL, Hansen VK, Powell JF, Corcia P, Salachas F, Heath S, Galan P, Georges F, Horvitz HR, Lathrop M, Purcell S, Al-Chalabi A, Brown RH Jr.

Proc Natl Acad Sci U S A. 2009 Jun 2;106(22):9004-9. doi: 10.1073/pnas.0812937106. Epub 2009 May 18.

26.

Dpp6 is associated with susceptibility to progressive spinal muscular atrophy.

van Es MA, van Vught PW, van Kempen G, Blauw HM, Veldink JH, van den Berg LH.

Neurology. 2009 Mar 31;72(13):1184-5. doi: 10.1212/01.wnl.0000345368.01098.7e. No abstract available.

PMID:
19332697
27.

Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration.

Simpson CL, Lemmens R, Miskiewicz K, Broom WJ, Hansen VK, van Vught PW, Landers JE, Sapp P, Van Den Bosch L, Knight J, Neale BM, Turner MR, Veldink JH, Ophoff RA, Tripathi VB, Beleza A, Shah MN, Proitsi P, Van Hoecke A, Carmeliet P, Horvitz HR, Leigh PN, Shaw CE, van den Berg LH, Sham PC, Powell JF, Verstreken P, Brown RH Jr, Robberecht W, Al-Chalabi A.

Hum Mol Genet. 2009 Feb 1;18(3):472-81. doi: 10.1093/hmg/ddn375. Epub 2008 Nov 7.

28.

Meta-analysis of vascular endothelial growth factor variations in amyotrophic lateral sclerosis: increased susceptibility in male carriers of the -2578AA genotype.

Lambrechts D, Poesen K, Fernández-Santiago R, Al-Chalabi A, Del Bo R, Van Vught PW, Khan S, Marklund SL, Brockington A, van Marion I, Anneser J, Shaw C, Ludolph AC, Leigh NP, Comi GP, Gasser T, Shaw PJ, Morrison KE, Andersen PM, Van den Berg LH, Thijs V, Siddique T, Robberecht W, Carmeliet P.

J Med Genet. 2009 Dec;46(12):840-6. doi: 10.1136/jmg.2008.058222. Epub 2008 Apr 15.

PMID:
18413368
29.

Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen.

Blauw HM, Veldink JH, van Es MA, van Vught PW, Saris CG, van der Zwaag B, Franke L, Burbach JP, Wokke JH, Ophoff RA, van den Berg LH.

Lancet Neurol. 2008 Apr;7(4):319-26. doi: 10.1016/S1474-4422(08)70048-6. Epub 2008 Mar 3.

PMID:
18313986
30.

Progranulin genetic variability contributes to amyotrophic lateral sclerosis.

Sleegers K, Brouwers N, Maurer-Stroh S, van Es MA, Van Damme P, van Vught PW, van der Zee J, Serneels S, De Pooter T, Van den Broeck M, Cruts M, Schymkowitz J, De Jonghe P, Rousseau F, van den Berg LH, Robberecht W, Van Broeckhoven C.

Neurology. 2008 Jul 22;71(4):253-9. doi: 10.1212/01.wnl.0000289191.54852.75. Epub 2008 Jan 9.

PMID:
18184915
31.

Pharmacokinetics of riluzole: evidence for glucuronidation as a major metabolic pathway not associated with UGT1A1 genotype.

van Kan HJ, van den Berg LH, Groeneveld GJ, van der Straaten RJ, van Vught PW, Lie-A-Huen L, Guchelaar HJ.

Biopharm Drug Dispos. 2008 Apr;29(3):139-44.

PMID:
18098330
32.

Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.

van Es MA, van Vught PW, Blauw HM, Franke L, Saris CG, Van den Bosch L, de Jong SW, de Jong V, Baas F, van't Slot R, Lemmens R, Schelhaas HJ, Birve A, Sleegers K, Van Broeckhoven C, Schymick JC, Traynor BJ, Wokke JH, Wijmenga C, Robberecht W, Andersen PM, Veldink JH, Ophoff RA, van den Berg LH.

Nat Genet. 2008 Jan;40(1):29-31. Epub 2007 Dec 16.

PMID:
18084291
33.

ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study.

van Es MA, Van Vught PW, Blauw HM, Franke L, Saris CG, Andersen PM, Van Den Bosch L, de Jong SW, van 't Slot R, Birve A, Lemmens R, de Jong V, Baas F, Schelhaas HJ, Sleegers K, Van Broeckhoven C, Wokke JH, Wijmenga C, Robberecht W, Veldink JH, Ophoff RA, van den Berg LH.

Lancet Neurol. 2007 Oct;6(10):869-77.

PMID:
17827064
34.

Ciliary neurotrophic factor null alleles are not a risk factor for Charcot-Marie-Tooth disease, hereditary neuropathy with pressure palsies and amyotrophic lateral sclerosis.

Van Vught PW, Van Wijk J, Bradley TE, Plasmans D, Jakobs ME, Veldink JH, de Jong JM, Van den Berg LH, Baas F.

Neuromuscul Disord. 2007 Dec;17(11-12):964-7. Epub 2007 Jul 24.

PMID:
17651970
35.

The association between H63D mutations in HFE and amyotrophic lateral sclerosis in a Dutch population.

Sutedja NA, Sinke RJ, Van Vught PW, Van der Linden MW, Wokke JH, Van Duijn CM, Njajou OT, Van der Schouw YT, Veldink JH, Van den Berg LH.

Arch Neurol. 2007 Jan;64(1):63-7.

PMID:
17210810
36.

Lack of association between VEGF polymorphisms and ALS in a Dutch population.

Van Vught PW, Sutedja NA, Veldink JH, Koeleman BP, Groeneveld GJ, Wijmenga C, Uitdehaag BM, de Jong JM, Baas F, Wokke JH, Van den Berg LH.

Neurology. 2005 Nov 22;65(10):1643-5.

PMID:
16301496
37.

[From gene to disease: amyotrophic lateral sclerosis].

van Vught PW, Veldink JH, Baas F, van Muiswinkel FL, van den Berg LH.

Ned Tijdschr Geneeskd. 2004 Oct 23;148(43):2125-7. Review. Dutch.

PMID:
15553356

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