| A unifying genetic model for facioscapulohumeral muscular dystrophy RJLF Lemmers, PJ Van der Vliet, R Klooster, S Sacconi, P Camaño, ... Science 329 (5999), 1650-1653, 2010 | 762 | 2010 |
| Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 RJLF Lemmers, R Tawil, LM Petek, J Balog, GJ Block, GWE Santen, ... Nature genetics 44 (12), 1370-1374, 2012 | 654 | 2012 |
| Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene POU3F4 YJM de Kok, SM van der Maarel, M Bitner-Glindzicz, I Huber, AP Monaco, ... Science 267 (5198), 685-688, 1995 | 574 | 1995 |
| Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene L Snider, LN Geng, RJLF Lemmers, M Kyba, CB Ware, AM Nelson, ... PLoS genetics 6 (10), e1001181, 2010 | 505 | 2010 |
| DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy LN Geng, Z Yao, L Snider, AP Fong, JN Cech, JM Young, ... Developmental cell 22 (1), 38-51, 2012 | 473 | 2012 |
| Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy PGM van Overveld, RJFL Lemmers, LA Sandkuijl, L Enthoven, ... Nature genetics 35 (4), 315-317, 2003 | 441 | 2003 |
| Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element J Gabriëls, MC Beckers, H Ding, A De Vriese, S Plaisance, ... Gene 236 (1), 25-32, 1999 | 395 | 1999 |
| Facioscapulohumeral muscular dystrophy R Tawil, SM Van Der Maarel Muscle & Nerve: Official Journal of the American Association of …, 2006 | 372 | 2006 |
| Population-based incidence and prevalence of facioscapulohumeral dystrophy JCW Deenen, H Arnts, SM van der Maarel, GW Padberg, ... Neurology 83 (12), 1056-1059, 2014 | 356 | 2014 |
| Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere RJLF Lemmers, P de Kievit, L Sandkuijl, GW Padberg, GJB van Ommen, ... Nature genetics 32 (2), 235-236, 2002 | 325 | 2002 |
| Specific loss of histone H3 lysine 9 trimethylation and HP1γ/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD) W Zeng, JC De Greef, YY Chen, R Chien, X Kong, HC Gregson, ... PLoS genetics 5 (7), e1000559, 2009 | 319 | 2009 |
| Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts PAJ Leegwater, BQ Yuan, J Van der Steen, J Mulders, AAM Könst, ... The American Journal of Human Genetics 68 (4), 831-838, 2001 | 319 | 2001 |
| MuSK IgG4 autoantibodies cause myasthenia gravis by inhibiting binding between MuSK and Lrp4 MG Huijbers, W Zhang, R Klooster, EH Niks, MB Friese, KR Straasheijm, ... Proceedings of the National Academy of Sciences 110 (51), 20783-20788, 2013 | 285 | 2013 |
| ProteomeBinders: planning a European resource of affinity reagents for analysis of the human proteome MJ Taussig, O Stoevesandt, CAK Borrebaeck, AR Bradbury, D Cahill, ... Nature methods 4 (1), 13-17, 2007 | 256 | 2007 |
| Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation ST Winokur, YW Chen, PS Masny, JH Martin, JT Ehmsen, SJ Tapscott, ... Human molecular genetics 12 (22), 2895-2907, 2003 | 253 | 2003 |
| Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy RJLF Lemmers, M Wohlgemuth, KJ van der Gaag, PJ van der Vliet, ... The American Journal of Human Genetics 81 (5), 884-894, 2007 | 247 | 2007 |
| Mutations in DNMT3B modify epigenetic repression of the D4Z4 repeat and the penetrance of facioscapulohumeral dystrophy ML van den Boogaard, RJLF Lemmers, J Balog, M Wohlgemuth, ... The American Journal of Human Genetics 98 (5), 1020-1029, 2016 | 244 | 2016 |
| SOX antibodies in small-cell lung cancer and Lambert-Eaton myasthenic syndrome: frequency and relation with survival MJ Titulaer, R Klooster, M Potman, L Sabater, F Graus, IM Hegeman, ... Journal of clinical oncology 27 (26), 4260-4267, 2009 | 238 | 2009 |
| RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy L Snider, A Asawachaicharn, AE Tyler, LN Geng, LM Petek, L Maves, ... Human molecular genetics 18 (13), 2414-2430, 2009 | 234 | 2009 |
| Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice R Klooster, JJ Plomp, MG Huijbers, EH Niks, KR Straasheijm, FJ Detmers, ... Brain 135 (4), 1081-1101, 2012 | 227 | 2012 |
Baziel van EngelenRadboud University Medical Centre, Nijmegen, The Netherlands在 radboudumc.nl 的电子邮件经过验证
