Silvère van der Maarel
Silvère van der Maarel
Professor of Medical Epigenetics, Head of Department, Human Genetics, Leiden University Medical
Verified email at lumc.nl
Title
Cited by
Cited by
Year
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
5452010
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
YJ De Kok, SM van der Maarel, M Bitner-Glindzicz, I Huber, AP Monaco, ...
Science 267 (5198), 685-688, 1995
4941995
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, 2012
4392012
Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene
L Snider, LN Geng, RJLF Lemmers, M Kyba, CB Ware, AM Nelson, ...
PLoS genet 6 (10), e1001181, 2010
3522010
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
3522003
Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element
J Gabriels, MC Beckers, H Ding, A De Vriese, S Plaisance, ...
Gene 236 (1), 25-32, 1999
3261999
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
3112012
Facioscapulohumeral muscular dystrophy
R Tawil, SM Van Der Maarel
Muscle & Nerve: Official Journal of the American Association of …, 2006
2982006
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
2752001
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 Genet 5 (7), e1000559, 2009
2632009
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
2492002
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
2432007
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
2172003
Population-based incidence and prevalence of facioscapulohumeral dystrophy
JCW Deenen, H Arnts, SM van der Maarel, GW Padberg, ...
Neurology 83 (12), 1056-1059, 2014
2012014
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
1992009
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
1952007
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
1922013
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
1762012
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
1722009
Clinical features of facioscapulohumeral muscular dystrophy 2
JC De Greef, R Lemmers, P Camano, JW Day, S Sacconi, M Dunand, ...
Neurology 75 (17), 1548-1554, 2010
1652010
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