Zobrazeno 1 - 9 of 9 pro vyhledávání: '"Clare Bartram"'
1
McArdle's disease: Molecular genetics and metabolic consequences of the phenotype
Autor: Clare Bartram, Joanne Phoenix, Richard H.T. Edwards, Pam Hopkins, Robert J. Beynon, Veronica Toescu, H. Gibson
Publikováno v: Muscle & Nerve. 18:S18-S22
McArdle's disease is defined as a lack of functional muscle glycogen phosphorylase. Analysis of the myophosphorylase gene has demonstrated substantial heterogeneity in the mutations that cause the disease, but in almost all individuals, the molecular
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a12cc5d9c6c8df8c81de97198050f6b6
https://doi.org/10.1002/mus.880181406
Zobrazit plný text záznamu
2
McArdle's disease: a rare frameshift mutation in exon 1 of the muscle glycogen phosphorylase gene
Autor: Clare Bartram, Robert J. Beynon, Richard H.T. Edwards, John E. Clague
Publikováno v: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1226:341-343
We have previously discovered a common nonsense mutation in exon 1 of the myophosphorylase gene in patients with McArdle's disease, but this failed to explain all cases. We now report a second mutation (G → TT) in one patient, also in exon 1. This
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9642e6557e09b07de69d03bd5377c46
https://doi.org/10.1016/0925-4439(94)90047-7
Zobrazit plný text záznamu
3
McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases
Autor: Clare Bartram, John E. Clague, Richard H.T. Edwards, Robert J. Beynon
Publikováno v: Human Molecular Genetics. 2:1291-1293
McArdle's disease is an inherited disease that results from a lack of functional muscle glycogen phosphorylase. We report here the identification of a C to T transition in exon 1 of the muscle phosphorylase gene found in all patients studied. This ba
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a735ca4ba99a9571617b3b48446cd27
https://doi.org/10.1093/hmg/2.8.1291
Zobrazit plný text záznamu
4
Effect of vitamin B6 supplementation in McArdle's disease: a strategic case study
Autor: Clare Bartram, Richard H. T. Edwards, Joanne Phoenix, Robert J. Beynon, Pam Hopkins, Rosaline Quinlivan
Publikováno v: Neuromuscular disorders : NMD. 8(3-4)
A patient-blind study into the effect of a 10-week cessation of long-term vitamin B6 supplementation on B6 status and performance in McArdle's disease is reported. Muscle performance was assessed both subjectively and objectively by an ischaemic fati
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2891d44aaebaa07ecfc51f52ae5d2105
https://pubmed.ncbi.nlm.nih.gov/9631404
Zobrazit plný text záznamu
6
Interrelationships between Metabolism of Glycogen Phosphorylase and Pyridoxal Phosphate—Implications in Mcardle's Disease
Autor: Pamela Hopkins, Robert J. Beynon, Clare Bartram, Joanne Phoenix, Richard P. Evershed, Angela V. Flannery, Veronica Toescu, Richard H. T. Edwards, Deborah M. Leyland
This chapter discusses the interrelationships between metabolism of glycogen phosphorylase and pyridoxal phosphate-implications in Mcardle's disease. Glycogen phosphorylase is the key regulator of glycogenolysis, catalyzing the phosphorolysis of glyc
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1c61366ad15b47636cade4b562ed7ef2
https://doi.org/10.1016/s1043-4526(08)60024-8
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje