Ieke B. Ginjaar
Leiden University Medical Center(NL)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Cardiomyopathy and Myosin Studies, Genetic Neurodegenerative Diseases, Neurogenetic and Muscular Disorders Research, Ion channel regulation and function
Most-Cited Works
- → Local Dystrophin Restoration with Antisense Oligonucleotide PRO051(2007)761 cited
- → Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations(2009)545 cited
- → Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling(2013)367 cited
- → The importance of genetic diagnosis for Duchenne muscular dystrophy(2016)351 cited
- → The human beta 2-microglobulin gene. Primary structure and definition of the transcriptional unit.(1987)321 cited
- → Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies(1990)161 cited
- → Reduced cerebral gray matter and altered white matter in boys with Duchenne muscular dystrophy(2014)120 cited
- → Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups.(1993)93 cited
- → Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family(2000)87 cited
- → In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia(2008)72 cited