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Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study.
Goselink RJM, Schreuder THA, van Alfen N, de Groot IJM, Jansen M, Lemmers RJLF, van der Vliet PJ, van der Stoep N, Theelen T, Voermans NC, van der Maarel SM, van Engelen BGM, Erasmus CE. Goselink RJM, et al. Ann Neurol. 2018 Nov;84(5):627-637. doi: 10.1002/ana.25326. Epub 2018 Oct 16. Ann Neurol. 2018. PMID: 30179273 Free PMC article.
Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene.
Lemmers RJLF, van der Vliet PJ, Blatnik A, Balog J, Zidar J, Henderson D, Goselink R, Tapscott SJ, Voermans NC, Tawil R, Padberg GWAM, van Engelen BG, van der Maarel SM. Lemmers RJLF, et al. J Med Genet. 2022 Feb;59(2):180-188. doi: 10.1136/jmedgenet-2020-107041. Epub 2021 Jan 12. J Med Genet. 2022. PMID: 33436523 Free PMC article.
Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD).
Goselink RJ, Schreuder TH, Mul K, Voermans NC, Pelsma M, de Groot IJ, van Alfen N, Franck B, Theelen T, Lemmers RJ, Mah JK, van der Maarel SM, van Engelen BG, Erasmus CE. Goselink RJ, et al. BMC Neurol. 2016 Aug 17;16:138. doi: 10.1186/s12883-016-0664-6. BMC Neurol. 2016. PMID: 27530735 Free PMC article. Clinical Trial.
Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy.
Goselink RJM, Mul K, van Kernebeek CR, Lemmers RJLF, van der Maarel SM, Schreuder THA, Erasmus CE, Padberg GW, Statland JM, Voermans NC, van Engelen BGM. Goselink RJM, et al. Neurology. 2019 Jan 22;92(4):e378-e385. doi: 10.1212/WNL.0000000000006819. Epub 2018 Dec 19. Neurology. 2019. PMID: 30568007 Free PMC article.
Ophthalmological findings in facioscapulohumeral dystrophy.
Goselink RJM, Schreur V, van Kernebeek CR, Padberg GW, van der Maarel SM, van Engelen BGM, Erasmus CE, Theelen T. Goselink RJM, et al. Brain Commun. 2019 Oct 11;1(1):fcz023. doi: 10.1093/braincomms/fcz023. eCollection 2019. Brain Commun. 2019. PMID: 32954265 Free PMC article.
Natural History of Facioscapulohumeral Dystrophy in Children: A 2-Year Follow-up.
Dijkstra JN, Goselink RJM, van Alfen N, de Groot IJM, Pelsma M, van der Stoep N, Theelen T, van Engelen BGM, Voermans NC, Erasmus CE. Dijkstra JN, et al. Among authors: goselink rjm. Neurology. 2021 Nov 23;97(21):e2103-e2113. doi: 10.1212/WNL.0000000000012882. Epub 2021 Oct 21. Neurology. 2021. PMID: 34675094 Free PMC article.
18 results