Zobrazeno 1 - 10
of 44
pro vyhledávání: '"L. V. B. Nicholson"'
Publikováno v:
Acta Neuropathologica. 87:349-354
Immunofluorescence and immunogold labelling were used to localise the 43-kDa dystrophinassociated glycoprotein (43DAG) of the dystrophin-glycoprotein complex in control and Duchenne muscular dystrophy (DMD) biopsies. In control muscle 43DAG was local
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32caaaf52a4840d18c0859f3736bd80c
https://doi.org/10.1007/bf00313603
https://doi.org/10.1007/bf00313603
Publikováno v:
Archives of Disease in Childhood. 68:632-636
The age when boys lose the ability to walk independently is one of the milestones in the progression of Duchenne muscular dystrophy (DMD). We have used this as a measure of disease severity in a group of 30 patients with DMD and six patients with int
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00ac305e05f183311b006fcf9e49157e
https://doi.org/10.1136/adc.68.5.632
https://doi.org/10.1136/adc.68.5.632
Publikováno v:
Proceedings of the Royal Society of London. B. Biological Sciences. 240:197-210
Immunolabelling with a 5 nm gold probe was used to localize dystrophin at the ultrastructural level in human muscle. The primary antibody was monoclonal, raised against a segment (amino acids 1181-1388) from the rod domain of dystrophin. The antibody
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f0672f85777800953121155e6c6bb71
https://doi.org/10.1098/rspb.1990.0034
https://doi.org/10.1098/rspb.1990.0034
Publikováno v:
European Journal of Pediatrics. 153:492-494
We report here a mentally retarded 32-month-old boy whose initial diagnosis was Angelman syndrome based on his clinical features. Cytogenetic studies showed a normal karyotype. Due to an elevated level of serum creatine kinase activity, we performed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ff78fb222e8e173a4395a08f8b33cea
https://doi.org/10.1007/bf01957003
https://doi.org/10.1007/bf01957003
Autor:
L. V. B. Nicholson, J. B. Harris, M. A. Johnson, Katharine Bushby, D. Gardner-Medwin, I. D. Haggerty, S. S. Bhattacharya, N. J. Cleghorn
Publikováno v:
Journal of neurology. 240(2)
We have correlated a detailed clinical assessment of 67 patients with proven Becker muscular dystrophy with the results from genetic and protein analyses. There was an overall deletion frequency of 80%, rising to 92.6% in the large group of patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::990baf90ae86f2eb8d0a75e679f0fce9
https://pubmed.ncbi.nlm.nih.gov/8437017
https://pubmed.ncbi.nlm.nih.gov/8437017
Autor:
L. V. B. Nicholson, S. Brittain-Jones, H. G. Boddie, Roland G. Roberts, M. A. Johnson, Stephen Abbs, E. Watkiss, I. A. Glass
Publikováno v:
Scopus-Elsevier
Females manifesting Becker muscular dystrophy (BMD) are even more rarely observed than for the allelic condition Duchenne muscular dystrophy. The male proband has typical BMD with greatly raised CK activity and a myopathic muscle biopsy. His mother e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::533e76913678e693ba2ce136c75695db
https://europepmc.org/articles/PMC1016067/
https://europepmc.org/articles/PMC1016067/
Autor:
L. V. B. Nicholson, J.B. Harris, Peter N. Ray, Michael Cullen, J. Walsh, E.E. Zubrzycka-Gaarn, R.G. Worton
Publikováno v:
Neuromuscular disorders : NMD. 1(2)
Immunolabelling with a 10 nm gold probe was used to localize dystrophin at the ultrastructural level in human skeletal muscle. The primary antibody was raised against a synthetic peptide containing the last 17 amino acids at the C-terminus of dystrop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eed869a6b4c820b725c96fa6eb82a92e
https://pubmed.ncbi.nlm.nih.gov/1822781
https://pubmed.ncbi.nlm.nih.gov/1822781
Autor:
L. V. B. Nicholson, John Harris, S.M. Forrest, M. A. Johnson, Donald R. Love, Dennis E. Bulman, England S, E. E. Zubrzycka-Gaarn, Kay E. Davies
Publikováno v:
Nature. 343(6254)
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), a much milder form of the disease where the age of onset can sometimes be as late as the third or fourth decade of life, are caused by mutations in the same X-linked gene, a 14 ki
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92a1bc61f32cb36170f1eecba04a4e03
https://pubmed.ncbi.nlm.nih.gov/2404210
https://pubmed.ncbi.nlm.nih.gov/2404210
Publikováno v:
Acta neuropathologica. 80(3)
This report documents the results of an integrated biochemical and immunocytochemical investigation into the expression of dystrophin (the protein product of the Duchenne muscular dystrophy gene) in muscle biopsies from 226 patients. It is the first
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b772c9ec453115771f145bc6a2d3616e
https://pubmed.ncbi.nlm.nih.gov/2205076
https://pubmed.ncbi.nlm.nih.gov/2205076
Publikováno v:
Reproduction. 58:435-442
Summary. Human alpha uterine protein (AUP) has been prepared from extracts of decidua by antibody affinity chromatography, DEAE Sepharose chromatography and by filtration through Sephadex G-150. This procedure yielded a protein fraction containing AU
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::375e58b81c96c71ab9dbc1641fdcfb60
https://doi.org/10.1530/jrf.0.0580435
https://doi.org/10.1530/jrf.0.0580435