Silvère M. van der Maarel
Leiden University Medical Center(NL)
Publications by Year
Research Areas
Muscle Physiology and Disorders, RNA Research and Splicing, Neurogenetic and Muscular Disorders Research, Cardiomyopathy and Myosin Studies, Genetic Neurodegenerative Diseases
Most-Cited Works
- → A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy(2010)763 cited
- → Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2(2012)647 cited
- → Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene(2010)484 cited
- → DUX4 Activates Germline Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral Dystrophy(2011)469 cited
- → Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene POU3F4(1995)446 cited
- → Facioscapulohumeral muscular dystrophy(2006)437 cited
- → Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy