H.B. Ginjaar
Publications by Year
Research Areas
Muscle Physiology and Disorders, Genetic Neurodegenerative Diseases, Cardiomyopathy and Myosin Studies, Neurogenetic and Muscular Disorders Research, Ion channel regulation and function
Most-Cited Works
- Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.(1989)
- → Calpainopathy—A Survey of Mutations and Polymorphisms(1999)206 cited
- → Duplications in theDMD gene(2006)159 cited
- → Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD)(2011)153 cited
- → Dystrophin levels and clinical severity in Becker muscular dystrophy patients(2013)121 cited
- → Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation(2004)116 cited
- → The clinical spectrum of limb girdle muscular dystrophy A survey in the Netherlands(1996)96 cited
- → Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy(2009)94 cited
- → Redefining the clinical phenotypes of non-dystrophic myotonic syndromes(2009)90 cited
- → Limb-girdle muscular dystrophy in the Netherlands: Gene defect identified in half the families(2007)69 cited