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Page 1
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
Tenney AP, Di Gioia SA, Webb BD, Chan WM, de Boer E, Garnai SJ, Barry BJ, Ray T, Kosicki M, Robson CD, Zhang Z, Collins TE, Gelber A, Pratt BM, Fujiwara Y, Varshney A, Lek M, Warburton PE, Van Ryzin C, Lehky TJ, Zalewski C, King KA, Brewer CC, Thurm A, Snow J, Facio FM, Narisu N, Bonnycastle LL, Swift A, Chines PS, Bell JL, Mohan S, Whitman MC, Staffieri SE, Elder JE, Demer JL, Torres A, Rachid E, Al-Haddad C, Boustany RM, Mackey DA, Brady AF, Fenollar-Cortés M, Fradin M, Kleefstra T, Padberg GW, Raskin S, Sato MT, Orkin SH, Parker SCJ, Hadlock TA, Vissers LELM, van Bokhoven H, Jabs EW, Collins FS, Pennacchio LA, Manoli I, Engle EC. Tenney AP, et al. Among authors: padberg gw. Nat Genet. 2023 Jul;55(7):1149-1163. doi: 10.1038/s41588-023-01424-9. Epub 2023 Jun 29. Nat Genet. 2023. PMID: 37386251 Free PMC article.
1st FSHD European Trial Network workshop:Working towards trial readiness across Europe.
Voermans NC, Vriens-Munoz Bravo M, Padberg GW, Laforêt P; FSHD European Trial Network workshop study group; van Alfen N, Attarian S, Badrising UA, Bugiardini P, Camano González P, Carlier RY, Desguerre I, Diaz-Manera J, Dumonceaux J, van Engelen BG, Evangelista T, Khosla S, Lópezde Munain A, van der Maarel SM, Mejat A, Monforte M, Montagnese F, Mul K, Oflazer P, Porter B, Quijano Roy S, Ricci E, Sacconi S, Sansone VA, Schoser B, Statland J, Stumpe E, Tasca G, Tawil R, Turner C, Vissing J. Voermans NC, et al. Among authors: padberg gw. Neuromuscul Disord. 2021 Sep;31(9):907-918. doi: 10.1016/j.nmd.2021.07.013. Epub 2021 Jul 24. Neuromuscul Disord. 2021. PMID: 34404575 No abstract available.
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. Among authors: padberg gwam. 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.
Characterizing the face in facioscapulohumeral muscular dystrophy.
Loonen TGJ, Horlings CGC, Vincenten SCC, Beurskens CHG, Knuijt S, Padberg GWAM, Statland JM, Voermans NC, Maal TJJ, van Engelen BGM, Mul K. Loonen TGJ, et al. Among authors: padberg gwam. J Neurol. 2021 Apr;268(4):1342-1350. doi: 10.1007/s00415-020-10281-z. Epub 2020 Oct 28. J Neurol. 2021. PMID: 33113021 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. Among authors: padberg gw. Brain Commun. 2019 Oct 11;1(1):fcz023. doi: 10.1093/braincomms/fcz023. eCollection 2019. Brain Commun. 2019. PMID: 32954265 Free PMC article.
Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations.
Voermans NC, van der Bilt RC, IJspeert J, Hogrel JY, Jeanpierre M, Behin A, Laforet P, Stojkovic T, van Engelen BG, Padberg GW, Sacconi S, Lemmers RJLF, van der Maarel SM, Eymard B, Bassez G. Voermans NC, et al. Among authors: padberg gw. J Neurol. 2019 Dec;266(12):2987-2996. doi: 10.1007/s00415-019-09494-8. Epub 2019 Aug 31. J Neurol. 2019. PMID: 31471688 Free PMC article.
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. Among authors: padberg gw. Neurology. 2019 Jan 22;92(4):e378-e385. doi: 10.1212/WNL.0000000000006819. Epub 2018 Dec 19. Neurology. 2019. PMID: 30568007 Free PMC article.
168 results