Joseph P Sarsero
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Explore the profile of Joseph P Sarsero including associated specialties, affiliations and a list of published articles.
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15
Citations
343
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Recent Articles
1.
Yiu E, Tai G, Peverill R, Lee K, Croft K, Mori T, et al.
J Neurol
. 2015 Apr;
262(5):1344-53.
PMID: 25845763
Friedreich ataxia (FRDA) is due to a triplet repeat expansion in FXN, resulting in deficiency of the mitochondrial protein frataxin. Resveratrol is a naturally occurring polyphenol, identified to increase frataxin...
2.
Sarsero J, Holloway T, Li L, Finkelstein D, Ioannou P
PLoS One
. 2014 Mar;
9(3):e93307.
PMID: 24667739
Friedreich ataxia (FRDA) is an autosomal recessive disorder characterized by neurodegeneration and cardiomyopathy. The presence of a GAA trinucleotide repeat expansion in the first intron of the FXN gene results...
3.
Li L, Voullaire L, Sandi C, Pook M, Ioannou P, Delatycki M, et al.
PLoS One
. 2013 Feb;
8(2):e55940.
PMID: 23418481
Friedreich ataxia (FRDA) is an autosomal recessive disorder characterized by neurodegeneration and cardiomyopathy. The presence of a GAA trinucleotide repeat expansion in the first intron of the FXN gene results...
4.
Peters H, Pitt J, Wood L, Hamilton N, Sarsero J, Buck N
PLoS One
. 2012 Jul;
7(7):e40609.
PMID: 22792386
Methylmalonic aciduria (MMA) is a disorder of organic acid metabolism resulting from a functional defect of methylmalonyl-CoA mutase (MCM). MMA is associated with significant morbidity and mortality, thus therapies are...
5.
Evans-Galea M, Carrodus N, Rowley S, Corben L, Tai G, Saffery R, et al.
Ann Neurol
. 2012 Apr;
71(4):487-97.
PMID: 22522441
Objective: Friedreich ataxia (FA) is the most common ataxia and results from an expanded GAA repeat in the first intron of FXN. This leads to epigenetic modifications and reduced frataxin....
6.
Puspasari N, Rowley S, Gordon L, Lockhart P, Ioannou P, Delatycki M, et al.
PLoS One
. 2011 Jul;
6(7):e22001.
PMID: 21760943
Background: Friedreich ataxia (FRDA) is the most common form of hereditary ataxia characterized by the presence of a GAA trinucleotide repeat expansion within the first intron of the FXN gene....
7.
Holloway T, Rowley S, Delatycki M, Sarsero J
Biotechniques
. 2011 Apr;
50(3):182-6.
PMID: 21486239
Friedreich ataxia is a neurodegenerative disorder caused by the expansion of a GAA trinucleotide repeat sequence within the first intron of the FXN gene. Interruptions in the GAA repeat may...
8.
Liu J, Verma P, Evans-Galea M, Delatycki M, Michalska A, Leung J, et al.
Stem Cell Rev Rep
. 2010 Dec;
7(3):703-13.
PMID: 21181307
Friedreich ataxia (FRDA) is an autosomal recessive disorder characterised by neurodegeneration and cardiomyopathy. It is caused by a trinucleotide (GAA) repeat expansion in the first intron of the FXN gene...
9.
Hu R, Buck N, S Khaniani M, Wood L, Wardan H, Benoist J, et al.
J Gene Med
. 2009 Feb;
11(4):361-9.
PMID: 19199343
Background: Methylmalonic aciduria is an autosomal recessive inborn error of the propionate metabolic pathway. One form of this disorder is caused by mutations in methylmalonyl-coenzyme A mutase (MCM), resulting in...
10.
McLenachan S, Goldshmit Y, Fowler K, Voullaire L, Holloway T, Turnley A, et al.
Transgenic Res
. 2008 Aug;
17(6):1103-16.
PMID: 18709437
The development of homologous recombination methods for the precise modification of bacterial artificial chromosomes has allowed the introduction of disease causing mutations or fluorescent reporter genes into human loci for...