In 2013 werden de volgende artikelen gepubliceerd in toonaangevende internationale wetenschappelijke tijdschriften.
Op www.pubmed.com zijn alle wetenschappelijke publicaties over medisch onderzoek wereldwijd te raadplegen, dus ook de publicaties van het ALS Centrum. Van alle publicaties wordt een abstract weergegeven. Steeds meer wetenschappelijke tijdschriften zijn ‘open acces’. Dat betekent dat er geen abonnementsgelden nodig zijn om artikelen te kunnen lezen. Mocht u geen toegang hebben tot een publicatie van het ALS Centrum, dan kunt u contact opnemen met ons via info@als-centrum.nl
UMC Utrecht
1. Vlam L, Cats EA, Willemse E, Franssen H, Medic J, Piepers S, Veldink JH, van den Berg LH, van der Pol WL. Pharmacokinetics of intravenous immunoglobulin in multifocal motor neuropathy. J Neurol Neurosurg Psychiatry. 2013 Dec 11. doi: 10.1136/jnnp-2013-306227. [Epub ahead of print]
2. van Blitterswijk M, Rademakers R, van den Berg LH. Clinical variability and additional mutations in amyotrophic lateral sclerosis patients with p.N352S mutations in TARDBP. Neuropathol Appl Neurobiol. 2013 Nov 18. doi: 10.1111/nan.12099. [Epub ahead of print]
3. Goris A, van Setten J, Diekstra F, Ripke S, Patsopoulos NA, Sawcer SJ; The International Multiple Sclerosis Genetics Consortium, van Es M; The Australia and New Zealand MS Genetics Consortium, Andersen PM, Melki J, Meininger V, Hardiman O, Landers JE, Brown RH, Shatunov A, Leigh N, Al-Chalabi A, Shaw CE, Traynor BJ, Chiò A, Restagno G, Mora G, Ophoff RA, Oksenberg JR, Van Damme P, Compston A, Robberecht W, Dubois B, van den Berg LH, De Jager PL, Veldink JH, de Bakker PI. No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis. Hum Mol Genet. 2013 Nov 28. [Epub ahead of print]
4. Cudkowicz ME, van den Berg LH, Shefner JM, Mitsumoto H, Mora JS, Ludolph A, Hardiman O, Bozik ME, Ingersoll EW, Archibald D, Meyers AL, Dong Y, Farwell WR, Kerr DA; for the EMPOWER investigators. Dexpramipexole versus placebo for patients with amyotrophic lateral sclerosis (EMPOWER): a randomised, double-blind, phase 3 trial. Lancet Neurology 2013 Nov;12(11):1059-67
5. Westra HJ, Peters MJ, Esko T, Yaghootkar H, Schurmann C, Kettunen J, Christiansen MW, Fairfax BP, Schramm K, Powell JE, Zhernakova A, Zhernakova DV, Veldink JH, Van den Berg LH, Karjalainen J, Withoff S, Uitterlinden AG, Hofman A, Rivadeneira F, ’t Hoen PA, Reinmaa E, Fischer K, Nelis M, Milani L, Melzer D, Ferrucci L, Singleton AB, Hernandez DG, Nalls MA, Homuth G, Nauck M, Radke D, Völker U, Perola M, Salomaa V, Brody J, Suchy-Dicey A, Gharib SA, Enquobahrie DA, Lumley T, Montgomery GW, Makino S, Prokisch H, Herder C, Roden M, Grallert H, Meitinger T, Strauch K, Li Y, Jansen RC, Visscher PM, Knight JC, Psaty BM, Ripatti S, Teumer A, Frayling TM, Metspalu A, van Meurs JB, Franke L. Systematic identification of trans eQTLs as putative drivers of known disease associations. Nature Genet 2013;45(10):1238-43.
6. Zhernakova DV, de Klerk E, Westra HJ, Mastrokolias A, Amini S, Ariyurek Y, Jansen R, Penninx BW, Hottenga JJ, Willemsen G, de Geus EJ, Boomsma DI, Veldink JH, van den Berg LH, Wijmenga C, den Dunnen JT, van Ommen GJ, ’t Hoen PA, Franke L. DeepSAGE Reveals Genetic Variants Associated with Alternative Polyadenylation and Expression of Coding and Non-coding Transcripts. PLoS Genet 2013 Epub 2013 Jun 20
7. Smith, B.N., Newhouse, S., Shatunov, A., Vance, C., Topp, S., Johnson, L., Miller, J., Lee, Y., Troakes, C., Scott, K.M., Jones, A., Gray, I., Wright, J., Hortobagyi, T., Al-Sarraj, S., et al, X, Berg, L.H. van den, Veldink, J.H. & Shaw, C.E. (2013). The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. European Journal of Human Genetics.
8. McLaren, P.J., Coulonges, C., Ripke, S., Berg, L.H. van den, et al, X, Veldink, J.H., Bakker, P.I.W. de & Fellay, J. (2013). Association Study of Common Genetic Variants and HIV-1 Acquisition in 6,300 Infected Cases and 7,200 Controls. PLoS Pathogens, 7, e1003515-e1003515.
9. Ravits J, Appel S, Baloh RH, Barohn R, Brooks BR, Elman L, Floeter MK, Henderson C, Lomen-Hoerth C, Macklis JD, McCluskey L, Mitsumoto H, Przedborski S, Rothstein J, Trojanowski JQ, van den Berg LH, Ringel S. Deciphering amyotrophic lateral sclerosis: what phenotype, neuropathology and genetics are telling us about pathogenesis. Amyotroph Lateral Scler Frontotemporal Degener 2013; 1:5-18.
10. Groen EJ, Fumoto K, Blokhuis AM, Engelen-Lee J, Zhou Y, van den Heuvel DM, Koppers M, van Diggelen F, van Heest J, Demmers JA, Kirby J, Shaw PJ, Aronica E, Spliet WG, Veldink JH, van den Berg LH, Pasterkamp RJ. ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN. Hum Mol Genet. 2013; 15;22(18):3690-704.
11. Blokhuis AM, Groen EJ, Koppers M, van den Berg LH, Pasterkamp RJ. Protein aggregation in amyotrophic lateral sclerosis. Acta Neuropathol 2013;125(6):777-94.
12. de Bot ST, Veldink JH, Vermeer S, Mensenkamp AR, Brugman F, Scheffer H, van den Berg LH, Kremer HP, Kamsteeg EJ, van de Warrenburg BP. ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes. J Neurol. 2013 260(3):869-75.
13. Deng M, Wei L, Zuo X, Tian Y, Xie F, Hu P, Zhu C, Yu F, Meng Y, Wang H, Zhang F, Ma H, Ye R, Cheng H, Du J, Dong W, Zhou S, Wang C, Wang Y, Wang J, Chen X, Sun Z, Zhou N, Jiang Y, Liu X, Li X, Zhang N, Liu N, Guan Y, Han Y, Han Y, Lv X, Fu Y, Yu H, Xi C, Xie D, Zhao Q, Xie P, Wang X, Zhang Z, Shen L, Cui Y, Yin X, Cheng H, Liang B, Zheng X, Lee TM, Chen G, Zhou F, Veldink JH, Robberecht W, Landers JE, Andersen PM, Al-Chalabi A, Shaw C, Liu C, Tang B, Xiao S, Robertson J, Zhang F, van den Berg LH, Sun L, Liu J, Yang S, Ju X, Wang K, Zhang X. Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis. Nature Genet 2013 29;45(6):714
14. Van Doormaal PT, Gallo A, van Rheenen W, Veldink JH, van Es MA, van den Berg LH. Amyotrophic lateral sclerosis is not linked to multiple sclerosis in a population based study. J Neurol Neurosurg Psychiatry 2013;84(8):940-1.
15. van Blitterswijk M, Wang ET, Friedman BA, Keagle PJ, Lowe P, Leclerc AL, van den Berg LH, Housman DE, Veldink JH, Landers JE. Characterization of FUS Mutations in Amyotrophic Lateral Sclerosis Using RNA-Seq. PLoS One 2013;8(4):e60788.
16. Kuitwaard K, van Doorn PA, Vermeulen M, van den Berg LH, Brusse E, van der Kooi AJ, van der Pol WL, van Schaik IN, Notermans N, Tio-Gillen AP, van Rijs W, van Gelder T, Jacobs BC. Serum IgG levels in IV immunoglobulin treated chronic inflammatory demyelinating polyneuropathy. J Neurol Neurosurg Psychiatry 2013;84(8):859-61.
17. Visser NA, Vrancken AF, van der Schouw YT, van den Berg LH, Notermans NC. Chronic idiopathic axonal polyneuropathy is associated with the metabolic syndrome. Diabetes Care 2013;36(4):817-22.
18. Verstraete E, Veldink JH, van den Berg LH, van den Heuvel MP. Structural brain network imaging shows expanding disconnection of the motor system in amyotrophic lateral sclerosis. Hum Brain Mapp 2013 Mar 1. [Epub ahead of print]
19. Huisman MH, Seelen M, de Jong SW, Dorresteijn KR, van Doormaal PT, van der Kooi AJ, de Visser M, Schelhaas HJ, Veldink JH, van den Berg LH. Lifetime physical activity and the risk of amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 2013;84(9):976-81.
20. Turner MR, Hardiman O, Benatar M, Brooks BR, Chio A, de Carvalho M, Ince PG, Lin C, Miller RG, Mitsumoto H, Nicholson G, Ravits J, Shaw PJ, Swash M, Talbot K, Traynor BJ, van den Berg LH, Veldink JH, Vucic S, Kiernan MC. Controversies and priorities in amyotrophic lateral sclerosis. Lancet Neurol 2013;12(3):310-22.
21. JH.Raaphorst J, Tuijp J, Verweij L, Westermann EJ, van der Kooi AJ, Gaytant MA, van den Berg LH, de Visser M, Kampelmacher MJ. Treatment of respiratory impairment in patients with motor neuron disease in the Netherlands: patient preference and timing of referral. Eur J Neurol 2013 Dec;20(12):1524-30.
22. Berry JD, Miller R, Moore DH, Cudkowicz ME, van den Berg LH, Kerr DA, Dong Y, Ingersoll EW, Archibald D. The Combined Assessment of Function and Survival (CAFS): A new endpoint for ALS clinical trials. Amyotroph Lateral Scler Frontotemporal Degener 2013;14(3):162-8.
23. Buizer-Voskamp JE, Blauw HM, Boks MP, van Eijk KR, Veldink JH, Hennekam EA, Vorstman JA, Mulder F, Tiemeier H, Uitterlinden AG, Kiemeney LA, van den Berg LH, Kahn RS, Sabatti C, Ophoff RA. Increased paternal age and the influence on burden of genomic copy number variation in the general population. Hum Genet 2013;132:443-50.
24. Saris CG, Groen EJ, Van Vught PW, van Es MA, Blauw HM, Veldink JH, van den Berg LH. Gene expression profile of SOD1-G93A mouse spinal cord, blood and muscle. Amyotroph Lateral Scler Frontotemporal Degener 2013;14(3):190-8.
25. Saris CG, Groen EJ, Koekkoek JA, Veldink JH, van den Berg LH. Meta-analysis of gene expression profiling in amyotrophic lateral sclerosis: A comparison between transgenic mouse models and human patients. Amyotroph Lateral Scler Frontotemporal Degener 2013;14(3):177-89.
26. Raaphorst J, Beeldman E, Schmand B, van den Berg LH, de Visser M, de Haan RJ. Response to ‘Exploring limits of neuropsychological screening in ALS: The FAB problem’. Amyotroph Lateral Scler Frontotemporal Degener 2013;14:159-60.
27. Koppers M, Groen EJ, van Vught PW, van Rheenen W, Witteveen E, van Es MA, Pasterkamp RJ, Veldink JH, van den Berg LH. Screening for rare variants in the coding region of ALS-associated genes at 9p21.2 and 19p13.3. Neurobiol Aging 2013: 518.
28. 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. H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis. Neurobiol Aging 2013:1517.
29. van Blitterswijk M, van Es MA, Verbaan D, van Hilten JJ, Scheffer H, van de Warrenburg BP, Veldink JH, van den Berg LH. Mutational analysis of TARDBP in Parkinson’s disease. Neurobiol Aging 2013: 34(5):1517.
30. ALSGEN Consortium, 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. Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. Neurobiol Aging 2013;34(1):357.
31. de Jong S, Huisman M, Sutedja N, van der Kooi A, de Visser M, Schelhaas J, van der Schouw Y, Veldink J, van den Berg LH. Endogenous female reproductive hormones and the risk of amyotrophic lateral sclerosis. J Neurol 2013;260:507-512.
32. Vlam L, van den Berg LH, Cats EA, Piepers S, van der Pol WL. Immune Pathogenesis and Treatment of Multifocal Motor Neuropathy. J Clin Immunol 2013;S38-42.
33. Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, Miller J, Lee Y, Troakes C, Scott KM, Jones A, Gray I, Wright J, Hortobágyi T, Al-Sarraj S, Rogelj B, Powell J, Lupton M, Lovestone S, Sapp PC, Weber M, Nestor PJ, Schelhaas HJ, Asbroek AA, Silani V, Gellera C, Taroni F, Ticozzi N, van den Berg LH, Veldink J, Van Damme P, Robberecht W, Shaw PJ, Kirby J, Pall H, Morrison KE, Morris A, de Belleroche J, Vianney de Jong JM, Baas F, Andersen PM, Landers J, Brown RH Jr, Weale ME, Al-Chalabi A, Shaw CE. The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. Eur J Hum Genet 2013;21(1):102-8.
AMC
1. Raaphorst J, Beeldman E, Schmand B, Berkhout J, Linssen WH, van den Berg LH, Pijnenburg YA, Grupstra HF, Weikamp JG, Schelhaas HJ, Papma JM, van Swieten JC, de Visser M, de Haan RJ. The ALS-FTD-Q: a new screening tool for behavioral disturbances in ALS. Neurology 2012;79(13):1377-83.
2. Raaphorst J, Beeldman E, Schmand B, Berkhout J, Linssen WH, van den Berg LH, Pijnenburg YA, Grupstra HF, Weikamp JG, Schelhaas HJ, Papma JM, van Swieten JC, de Visser M, de Haan RJ. The ALS-FTD-Q: A new screening tool for behavioral disturbances in ALS. Neurology 25;79(13):1377-83.
3. Raaphorst J, Beeldman E, De Visser M, De Haan RJ, Schmand B. A systematic review of behavioural changes in motor neuron disease. Amyotroph Lateral Scler. 2012 Oct;13(6):493-501. doi: 10.3109/17482968.2012.656652. Epub 2012 Mar 16.
