Zobrazeno 1 - 10
of 15
pro vyhledávání: '"E. P. Owen"'
Autor:
C. A. Staunton, E. D. Owen, K. Hemmings, A. Vasilaki, A. McArdle, R. Barrett-Jolley, M. J. Jackson
Publikováno v:
Skeletal Muscle, Vol 12, Iss 1, Pp 1-20 (2022)
Abstract Motor unit remodelling involving repeated denervation and re-innervation occurs throughout life. The efficiency of this process declines with age contributing to neuromuscular deficits. This study investigated differentially expressed genes
Externí odkaz:
https://doaj.org/article/2478ca802cc7430292431e40db8b85e4
Publikováno v:
New Journal of Physics, Vol 20, Iss 4, p 045004 (2018)
Driven-dissipative quantum many-body systems have attracted increasing interest in recent years as they lead to novel classes of quantum many-body phenomena. In particular, mean-field calculations predict limit cycle phases, slow oscillations instead
Externí odkaz:
https://doaj.org/article/42c3b5d3172942b29004d1d1205d4dcc
Publikováno v:
Journal of clinical pathology. 75(1)
AimsMitochondrial diseases form one of the largest groups of inborn errors of metabolism. The birth prevalence is approximately 1/5000 in well-studied populations, but little has been reported from Sub-Saharan Africa. The aim of this study was to des
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a893e6d6ca428cacb7eb1e0e45573e6
https://pubmed.ncbi.nlm.nih.gov/33115810
https://pubmed.ncbi.nlm.nih.gov/33115810
Autor:
Ingrid Baumgarten, E. P. Owen, Nicholas D. Watermeyer, Felicity Leisegang, Nigel J. Manning, Howard E. Henderson, George van der Watt, Peter Berman, Surita Meldau, Simon E. Olpin
Publikováno v:
Molecular Genetics and Metabolism. 101:178-182
Glutaric Aciduria type 1 (GA 1) is an inherited disorder of lysine and tryptophan catabolism that typically manifests in infants with acute cerebral injury associated with intercurrent illness. We investigated the clinical, biochemical and molecular
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dd25c740b28678ac623d63fc401dcdc
https://doi.org/10.1016/j.ymgme.2010.07.018
https://doi.org/10.1016/j.ymgme.2010.07.018
Publikováno v:
Journal of Inherited Metabolic Disease. 20:359-362
Recurrent early spontaneous abortion has been linked to hyperhomocysteinaemia (Steegers-Theunissen et al 1992; Wouters et al 1993). Homocysteine is derived from the essential amino acid methionine. It can be remethylated to methionine by betaine-homo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a9cf07c12fe4d1d6bed610d65e60640
https://doi.org/10.1023/a:1005373810756
https://doi.org/10.1023/a:1005373810756
Autor:
Paul C. Potter, E. P. Owen, Ann Orren, Felicity Leisegang, C. Stassen, Howard E. Henderson, L. van der Merwe
Summary Complete complement component 6 deficiency (C6Q0) is a co-dominant genetic disease presenting as increased susceptibility to invasive Neisseria meningitidis infections. Affected individuals have two affected alleles which can be homozygous or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::348c9afd21e497e193bd33177571fcd9
https://europepmc.org/articles/PMC3374278/
https://europepmc.org/articles/PMC3374278/
Complement component C5 and C6 mutation screening indicated in meningococcal disease in South Africa
Autor:
John Simpson, Andrew Whitelaw, Ann Orren, Paul Potter, E. P. Owen, Felicity Leisegang, Reinhard Würzner, S.G. Baker
Publikováno v:
SAMJ: South African Medical Journal, Volume: 102, Issue: 6, Pages: 525-527, Published: JUN 2012
Background. Invasive meningococcal disease (MD), caused by Neisseria meningitidis infection, is endemic in South Africa, with a seasonal peak in winter and spring. There were 2 432 laboratory-confirmed cases between 2006 and 2010. Human deficiency of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79022dffca1f7483dd01347654182e8d
https://pubmed.ncbi.nlm.nih.gov/22668955
https://pubmed.ncbi.nlm.nih.gov/22668955
Publikováno v:
Molecular genetics and metabolism. 92(3)
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency causes episodic ketoacidosis. We encountered a case of siblings in South Africa in whom a novel homozygous mutation (R268H) was found in genomic DNA. Mutant SCOT protein was very faintly detec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99c6f1eb94e276012f2b336e4903f0a9
https://pubmed.ncbi.nlm.nih.gov/17706444
https://pubmed.ncbi.nlm.nih.gov/17706444
Publikováno v:
Neuromuscular disorders : NMD. 17(11-12)
We present data on the phenotypic variation in myasthenia gravis of 205 subjects from a multi-racial South African cohort. Consecutive subjects seen more than twice from 1996 to 2006, were included. Documented observational data included a myasthenia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f460c50c87513d8cec88c979abd25f1
https://pubmed.ncbi.nlm.nih.gov/17720497
https://pubmed.ncbi.nlm.nih.gov/17720497
Publikováno v:
BJOG : an international journal of obstetrics and gynaecology. 113(5)
The R563Q mutation of the beta-subunit of the epithelial sodium channel (ENaC) is associated with hypertension in black and mixed ancestry (MA) men and women in South Africa. The frequency of the R563Q mutation in black and MA women with pre-eclampsi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a3790a18eb4ab1bfca470ed634190bb4
https://pubmed.ncbi.nlm.nih.gov/16579800
https://pubmed.ncbi.nlm.nih.gov/16579800