Zobrazeno 1 - 8 of 8 pro vyhledávání: '"Sean M. Rash"'
1
Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations
Autor: Kathleen M. Fitzgerald, Gerhard W. Cibis, Peter N. Ray, Nancy M. Duncan, Robert A. White, Shannon J. Dwinnell, Sean M. Rash, Berkley R. Powell, De-Ann M. Pillers, Rhonda E. Schnur, Richard G. Weleber
Publikováno v: Human Genetics. 105:2-9
The dark-adapted electroretinogram (ERG) of patients with Duchenne and Becker muscular dystrophy (DMD/BMD) shows a marked reduction in b-wave amplitude. Genotype-phenotype studies of mouse models for DMD show position-specific effects of the mutation
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17304bb5b72c5d2656de05472f6f6cca
https://doi.org/10.1007/s004399900111
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2
Effects of Dystrophin Isoforms on Signal Transduction through Neural Retina: Genotype–Phenotype Analysis of Duchenne Muscular Dystrophy Mouse Mutants
Autor: Richard G. Weleber, Daniel G. Green, Perry L. Howard, Verne M. Chapman, William R. Woodward, Sean M. Rash, Peter N. Ray, De-Ann M. Pillers, Michael R. Powers, Ghassan Y. Dally, Donald C. Hood
Publikováno v: Molecular Genetics and Metabolism. 66:100-110
Duchenne and Becker muscular dystrophy patients have mutations in the dystrophin gene. Most show reduced b-wave amplitudes in the dark-adapted electroretinogram (ERG). We studied normal C57BL/6J mice and five X-linked muscular dystrophy strains with
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::000574b7ee03cdbe60e036ed4d24fcbd
https://doi.org/10.1006/mgme.1998.2784
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3
Normal Cochlear Function inmdxandmdxCv3Duchenne Muscular Dystrophy Mouse Models
Autor: Nancy M. Duncan, Shannon J. Dwinnell, Sean M. Rash, J. Beth Kempton, De-Ann M. Pillers, Dennis R. Trune
Publikováno v: The Laryngoscope. 109:1310-1312
Objectives/Hypothesis: Sensorineural hearing loss has been found in association with inherited muscular dystrophies in humans and in mouse models. An increased brainstem auditory evoked response threshold has been previously reported in the dystrophi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbe9ba022e679ce285b7d80bd7952d50
https://doi.org/10.1097/00005537-199908000-00023
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8
Echo- and Electrocardiography in Mice: Establishment of Methods for Assessing Cardiac Function in Mutant Strains. • 132
Autor: Sean M. Rash, G. Michael Silberbach, William R. Woodward, Timothy Thigpen, David J. Sahn, De-Ann M. Pillers
Publikováno v: Pediatric Research. 41:24-24
Clinical evaluation of cardiac function in man involves echocardiography and electrocardiography to assess morphology and electrical activity. Development of genetically altered mice provides transgenic and knockout strains which may display abnormal
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ad0c738c49874903c65686fdc9da4396
https://doi.org/10.1203/00006450-199704001-00152
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