Kirsten R. Straasheijm
Leiden University Medical Center(NL)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Neurogenesis and neuroplasticity mechanisms, RNA Research and Splicing, Myasthenia Gravis and Thymoma, Peripheral Neuropathies and Disorders
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
- → Long-lasting treatment effect of rituximab in MuSK myasthenia(2012)338 cited
- → MuSK IgG4 autoantibodies cause myasthenia gravis by inhibiting binding between MuSK and Lrp4(2013)285 cited
- → Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy(2016)263 cited
- → Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice(2012)217 cited
- → Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2(2011)197 cited
- → The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1(2013)185 cited
- → Longitudinal epitope mapping in MuSK myasthenia gravis: implications for disease severity(2016)75 cited
- → Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4(2015)69 cited