George Waltherus Adrianus Maria Padberg
Affiliations: | 1982 | Neurology | Leiden University, Leiden, Netherlands |
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"George Waltherus Adrianus Maria Padberg"Bio:
Parents
Sign in to add mentor| George W. Bruyn | grad student | 1982 | Leiden (Neurotree) | |
| (Facioscapulohumeral disease.) | ||||
| George Karel van Wijngaarden | grad student | 1982 | Leiden | |
| (Co-Sponsor) | ||||
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| Tenney AP, Di Gioia SA, Webb BD, et al. (2023) Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. Nature Genetics |
| Krom YD, Thijssen PE, Young JM, et al. (2013) Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD. Plos Genetics. 9: e1003415 |
| Lemmers RJ, Tawil R, Petek LM, et al. (2012) Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nature Genetics. 44: 1370-4 |
| Lemmers RJ, van der Vliet PJ, Klooster R, et al. (2010) A unifying genetic model for facioscapulohumeral muscular dystrophy. Science (New York, N.Y.). 329: 1650-3 |
| Lemmers RJ, Wohlgemuth M, van der Gaag KJ, et al. (2007) Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. American Journal of Human Genetics. 81: 884-94 |
| van der Maarel SM, Frants RR, Padberg GW. (2007) Facioscapulohumeral muscular dystrophy. Biochimica Et Biophysica Acta. 1772: 186-94 |
| Michielse CB, Bhat M, Brady A, et al. (2006) Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes European Journal of Human Genetics. 14: 1306-1312 |
| van Overveld PG, Enthoven L, Ricci E, et al. (2005) Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy. Annals of Neurology. 58: 569-76 |
| Van Der Zwaag B, Burbach JPH, Scharfe C, et al. (2005) Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse Genomics. 86: 55-67 |
| Buzhov BT, Lemmers RJ, Tournev I, et al. (2005) Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy. Neuromuscular Disorders : Nmd. 15: 471-5 |