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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, Uitterlinden AG, Hofman A, Rietschel … See abstract for full author list ➔ van Rheenen W, et al. Among authors: westeneng hj. 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.
Cortical thickness in ALS: towards a marker for upper motor neuron involvement.
Walhout R, Westeneng HJ, Verstraete E, Hendrikse J, Veldink JH, van den Heuvel MP, van den Berg LH. Walhout R, et al. Among authors: westeneng hj. J Neurol Neurosurg Psychiatry. 2015 Mar;86(3):288-94. doi: 10.1136/jnnp-2013-306839. Epub 2014 Aug 13. J Neurol Neurosurg Psychiatry. 2015. PMID: 25121571
Subcortical structures in amyotrophic lateral sclerosis.
Westeneng HJ, Verstraete E, Walhout R, Schmidt R, Hendrikse J, Veldink JH, van den Heuvel MP, van den Berg LH. Westeneng HJ, et al. Neurobiol Aging. 2015 Feb;36(2):1075-82. doi: 10.1016/j.neurobiolaging.2014.09.002. Epub 2014 Sep 6. Neurobiol Aging. 2015. PMID: 25281019
C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits.
Koppers M, Blokhuis AM, Westeneng HJ, Terpstra ML, Zundel CA, Vieira de Sá R, Schellevis RD, Waite AJ, Blake DJ, Veldink JH, van den Berg LH, Pasterkamp RJ. Koppers M, et al. Among authors: westeneng hj. Ann Neurol. 2015 Sep;78(3):426-38. doi: 10.1002/ana.24453. Epub 2015 Jul 3. Ann Neurol. 2015. PMID: 26044557 Free PMC article.
Brain morphologic changes in asymptomatic C9orf72 repeat expansion carriers.
Walhout R, Schmidt R, Westeneng HJ, Verstraete E, Seelen M, van Rheenen W, de Reus MA, van Es MA, Hendrikse J, Veldink JH, van den Heuvel MP, van den Berg LH. Walhout R, et al. Among authors: westeneng hj. Neurology. 2015 Nov 17;85(20):1780-8. doi: 10.1212/WNL.0000000000002135. Epub 2015 Oct 23. Neurology. 2015. PMID: 26497991
Full ablation of C9orf72 in mice causes immune system-related pathology and neoplastic events but no motor neuron defects.
Sudria-Lopez E, Koppers M, de Wit M, van der Meer C, Westeneng HJ, Zundel CA, Youssef SA, Harkema L, de Bruin A, Veldink JH, van den Berg LH, Pasterkamp RJ. Sudria-Lopez E, et al. Among authors: westeneng hj. Acta Neuropathol. 2016 Jul;132(1):145-7. doi: 10.1007/s00401-016-1581-x. Epub 2016 May 20. Acta Neuropathol. 2016. PMID: 27206760 Free PMC article. No abstract available.
C9orf72 expansion differentially affects males with spinal onset amyotrophic lateral sclerosis.
Rooney J, Fogh I, Westeneng HJ, Vajda A, McLaughlin R, Heverin M, Jones A, van Eijk R, Calvo A, Mazzini L, Shaw C, Morrison K, Shaw PJ, Robberecht W, Van Damme P, Al-Chalabi A, van den Berg L, Chiò A, Veldink J, Hardiman O. Rooney J, et al. Among authors: westeneng hj. J Neurol Neurosurg Psychiatry. 2017 Apr;88(4):281. doi: 10.1136/jnnp-2016-314093. Epub 2016 Sep 23. J Neurol Neurosurg Psychiatry. 2017. PMID: 27663272 Free article.
Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model.
Westeneng HJ, Debray TPA, Visser AE, van Eijk RPA, Rooney JPK, Calvo A, Martin S, McDermott CJ, Thompson AG, Pinto S, Kobeleva X, Rosenbohm A, Stubendorff B, Sommer H, Middelkoop BM, Dekker AM, van Vugt JJFA, van Rheenen W, Vajda A, Heverin M, Kazoka M, Hollinger H, Gromicho M, Körner S, Ringer TM, Rödiger A, Gunkel A, Shaw CE, Bredenoord AL, van Es MA, Corcia P, Couratier P, Weber M, Grosskreutz J, Ludolph AC, Petri S, de Carvalho M, Van Damme P, Talbot K, Turner MR, Shaw PJ, Al-Chalabi A, Chiò A, Hardiman O, Moons KGM, Veldink JH, van den Berg LH. Westeneng HJ, et al. Lancet Neurol. 2018 May;17(5):423-433. doi: 10.1016/S1474-4422(18)30089-9. Epub 2018 Mar 26. Lancet Neurol. 2018. PMID: 29598923 Free article.
41 results