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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlin… See abstract for full author list ➔ van Rheenen W, et al. Among authors: van es ma, van eijk kr, van der kooi aj, van vugt jjfa, van damme p, van den berg lh, van der spek raa, van deerlin vm. Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 6. Nat Genet. 2021. PMID: 34873335 Free PMC article.
Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis.
Bogaert E, Goris A, Van Damme P, Geelen V, Lemmens R, van Es MA, van den Berg LH, Sleegers K, Verpoorten N, Timmerman V, De Jonghe P, Van Broeckhoven C, Traynor BJ, Landers JE, Brown RH Jr, Glass JD, Al-Chalabi A, Shaw CE, Birve A, Andersen PM, Slowik A, Tomik B, Melki J, Robberecht W, Van Den Bosch L. Bogaert E, et al. Among authors: van es ma, van damme p, van den berg lh, van den bosch l, van broeckhoven c. Neurobiol Aging. 2012 Feb;33(2):418-20. doi: 10.1016/j.neurobiolaging.2010.03.007. Epub 2010 Apr 20. Neurobiol Aging. 2012. PMID: 20409611 Free PMC article.
The neurobiology of amyotrophic lateral sclerosis.
Bento-Abreu A, Van Damme P, Van Den Bosch L, Robberecht W. Bento-Abreu A, et al. Among authors: van damme p, van den bosch l. Eur J Neurosci. 2010 Jun;31(12):2247-65. doi: 10.1111/j.1460-9568.2010.07260.x. Epub 2010 Jun 7. Eur J Neurosci. 2010. PMID: 20529130 Review.
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study.
Shatunov A, Mok K, Newhouse S, Weale ME, Smith B, Vance C, Johnson L, Veldink JH, van Es MA, van den Berg LH, Robberecht W, Van Damme P, Hardiman O, Farmer AE, Lewis CM, Butler AW, Abel O, Andersen PM, Fogh I, Silani V, Chiò A, Traynor BJ, Melki J, Meininger V, Landers JE, McGuffin P, Glass JD, Pall H, Leigh PN, Hardy J, Brown RH Jr, Powell JF, Orrell RW, Morrison KE, Shaw PJ, Shaw CE, Al-Chalabi A. Shatunov A, et al. Among authors: van es ma, van den berg lh, van damme p. Lancet Neurol. 2010 Oct;9(10):986-94. doi: 10.1016/S1474-4422(10)70197-6. Lancet Neurol. 2010. PMID: 20801717 Free PMC article.
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force.
EFNS Task Force on Diagnosis and Management of Amyotrophic Lateral Sclerosis:; Andersen PM, Abrahams S, Borasio GD, de Carvalho M, Chio A, Van Damme P, Hardiman O, Kollewe K, Morrison KE, Petri S, Pradat PF, Silani V, Tomik B, Wasner M, Weber M. EFNS Task Force on Diagnosis and Management of Amyotrophic Lateral Sclerosis:, et al. Among authors: van damme p. Eur J Neurol. 2012 Mar;19(3):360-75. doi: 10.1111/j.1468-1331.2011.03501.x. Epub 2011 Sep 14. Eur J Neurol. 2012. PMID: 21914052
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. Diekstra FP, et al. Among authors: van es ma, van damme p, van den berg lh, van vught pw, van rheenen w. Neurobiol Aging. 2012 Mar;33(3):630.e3-8. doi: 10.1016/j.neurobiolaging.2011.10.029. Epub 2011 Nov 25. Neurobiol Aging. 2012. PMID: 22118904
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. van Es MA, et al. Among authors: van blitterswijk m, van der kooi aj, van hilten jj, van damme p, van den berg lh, van de warrenburg bp, van nuenen bf, van vught pw, van rheenen w. Ann Neurol. 2011 Dec;70(6):964-73. doi: 10.1002/ana.22611. Ann Neurol. 2011. PMID: 22190368 Free PMC article. Review.
Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis.
Herdewyn S, Zhao H, Moisse M, Race V, Matthijs G, Reumers J, Kusters B, Schelhaas HJ, van den Berg LH, Goris A, Robberecht W, Lambrechts D, Van Damme P. Herdewyn S, et al. Among authors: van den berg lh, van damme p. Hum Mol Genet. 2012 Jun 1;21(11):2412-9. doi: 10.1093/hmg/dds055. Epub 2012 Feb 17. Hum Mol Genet. 2012. PMID: 22343411 Free PMC article.
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. Blauw HM, et al. Among authors: van damme p, van den berg lh, van rheenen w, van vught pw. Hum Mol Genet. 2012 Jun 1;21(11):2497-502. doi: 10.1093/hmg/dds064. Epub 2012 Feb 28. Hum Mol Genet. 2012. PMID: 22378146
1,223 results