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Page 1
Autoantibody testing in idiopathic inflammatory myopathies.
Rietveld A, Lim J, de Visser M, van Engelen B, Pruijn G, Benveniste O, van der Kooi A, Saris C. Rietveld A, et al. Among authors: van der kooi a, van engelen b. Pract Neurol. 2019 Aug;19(4):284-294. doi: 10.1136/practneurol-2017-001742. Epub 2019 Mar 2. Pract Neurol. 2019. PMID: 30826741 Review.
Cardiac and pulmonary investigations in Bethlem myopathy.
van der Kooi AJ, de Voogt WG, Bertini E, Merlini L, Talim FB, Ben Yaou R, Urtziberea A, de Visser M. van der Kooi AJ, et al. Arch Neurol. 2006 Nov;63(11):1617-21. doi: 10.1001/archneur.63.11.1617. Arch Neurol. 2006. PMID: 17101832
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
Monnier N, Marty I, Faure J, Castiglioni C, Desnuelle C, Sacconi S, Estournet B, Ferreiro A, Romero N, Laquerriere A, Lazaro L, Martin JJ, Morava E, Rossi A, Van der Kooi A, de Visser M, Verschuuren C, Lunardi J. Monnier N, et al. Among authors: van der kooi a. Hum Mutat. 2008 May;29(5):670-8. doi: 10.1002/humu.20696. Hum Mutat. 2008. PMID: 18253926
Gastrointestinal involvement is frequent in Myotonic Dystrophy type 2.
Tieleman AA, van Vliet J, Jansen JB, van der Kooi AJ, Borm GF, van Engelen BG. Tieleman AA, et al. Among authors: van vliet j, van der kooi aj, van engelen bg. Neuromuscul Disord. 2008 Aug;18(8):646-9. doi: 10.1016/j.nmd.2008.05.010. Epub 2008 Jul 7. Neuromuscul Disord. 2008. PMID: 18602828
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. van Es MA, et al. Among authors: van der kooi aj, van den berg lh, van doormaal pt, van vught pw. Nat Genet. 2009 Oct;41(10):1083-7. doi: 10.1038/ng.442. Epub 2009 Sep 6. Nat Genet. 2009. PMID: 19734901
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. Van Es MA, et al. Among authors: van der kooi aj, van den berg lh, van vught pw. Amyotroph Lateral Scler. 2009 Oct-Dec;10(5-6):441-7. doi: 10.3109/17482960802673042. Amyotroph Lateral Scler. 2009. PMID: 19922138
281 results