Manuela C. Koch - Concepedia

Author

Manuela C. Koch

Also Known As

Koch, Manuela, Koch, Manuela C., M C Koch, M Koch, M. C. Koch, M. Koch, M.C Koch, M.C. Koch, Manuela C Koch, Manuela C. Koch

Publications

5.1K

Citations

H-Index

115

Concepts

All Affiliations

Philipps University of Marburg Quaid-i-Azam University Landesuntersuchungsamt Rheinland-Pfalz Justus-Liebig-Universität Gießen University of Würzburg

About

Manuela C. Koch is an author at Philipps University of Marburg specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	27	42	3.4K
2	Health Sciences	7	7	1.3K
3	Natural Sciences	6	6	408
4	Public Health	6	6	370
5	Applied Physiology	1	1	712

Manuela C. Koch

Publications

4.8K

Citations

H-Index

Page 1

	Year	Citations
The Skeletal Muscle Chloride Channel in Dominant and Recessive Human Myotonia Manuela C. Koch, Klaus Steinmeyer, C Lorenz, Science Muscle FunctionGeneticsMolecular GeneticsDisease Gene IdentificationCellular Physiology	1992	712
Myotonic dystrophy type 2 John Day, K. Ricker, Jennifer F. Jacobsen, Neurology	2003	456
A polymorphic microsatellite that mediates induction of PIG3 by p53 Ana Contente, Alexandra Dittmer, Manuela C. Koch, Nature Genetics Developmental BiologyGeneticsPolymorphic MicrosatelliteGenetic MechanismMolecular Genetics	2002	292
Proximal myotonic myopathy K. Ricker, Manuela C. Koch, F. Lehmann‐Horn, Neurology Neuromusculoskeletal DisorderChannelopathiesMendelian DisorderGenetic DisorderGenetics	1994	253
Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). Klaus Steinmeyer, C Lorenz, Michael Pusch, The EMBO Journal BiologyDominant Myotonia CongenitaSignal TransductionMolecular PhysiologyMultimeric Structure	1994	222
Diagnostic criteria for facioscapulohumeral muscular dystrophy G.W. Padberg, Peter Lunt, Manuela C. Koch, Neuromuscular Disorders DiagnosisMotor DisorderMedicineOrthopaedic SurgeryNeuromusculoskeletal Disorder	1991	218
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) Peter Lunt, Philip Jardine, Manuela C. Koch, Human Molecular Genetics	1995	208
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] Lothar Károlyi, Martin Konrad, Arnold Köckerling, Human Molecular Genetics Electrolyte DisorderGeneticsRenal PathologyPathologyBartter-like Syndromes	1997	190
Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel Michael Pusch, Klaus Steinmeyer, Manuela C. Koch, Neuron	1995	188
Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. Christof Meyer-Kleine, Klaus Steinmeyer, K. Ricker, PubMed	1995	165

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