Manuela C. Koch
Nuvisan (Germany)(DE)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Ion channel regulation and function, Muscle Physiology and Disorders, Mitochondrial Function and Pathology, Cardiomyopathy and Myosin Studies
Most-Cited Works
- → The Skeletal Muscle Chloride Channel in Dominant and Recessive Human Myotonia(1992)712 cited
- → Myotonic dystrophy type 2(2003)457 cited
- → A polymorphic microsatellite that mediates induction of PIG3 by p53(2002)293 cited
- → Proximal myotonic myopathy(1994)253 cited
- → Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).(1994)222 cited
- → Diagnostic criteria for facioscapulohumeral muscular dystrophy(1991)219 cited
- → Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)(1995)208 cited
- → Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes [published erratum appears in Hum Mol Genet 1997 Apr;6(4):650](1997)190 cited
- → Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel(1995)188 cited
- Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.(1995)