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1999 1
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2013 1
2022 2
2023 0

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PGC-1α affects skeletal muscle and adipose tissue development by regulating mitochondrial biogenesis.
Kong S, Cai B, Nie Q. Kong S, et al. Mol Genet Genomics. 2022 May;297(3):621-633. doi: 10.1007/s00438-022-01878-2. Epub 2022 Mar 15. Mol Genet Genomics. 2022. PMID: 35290519 Review.
In addition, PGC-1alpha affects skeletal muscle and adipose metabolism by regulating mitochondrial oxidative phosphorylation. Recently, new data suggest that regulating mitochondrial metabolism in adipose tissue may be an effective adjunct to the treat …
In addition, PGC-1alpha affects skeletal muscle and adipose metabolism by regulating mitochondrial oxidative phosphorylatio …
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A, Charoute H, Charif M, Amalou G, Kandil M, Barakat A, Lenaers G. Bouzidi A, et al. Orphanet J Rare Dis. 2022 May 12;17(1):197. doi: 10.1186/s13023-022-02340-7. Orphanet J Rare Dis. 2022. PMID: 35551639 Free PMC article. Review.
These two groups of pathologies are highly heterogeneous and require combined clinical and molecular diagnoses to be securely identified. ...Non-syndromic IRD were more frequent than syndromic ones, with photoreceptor alterations being the main cause of non-syndromic IRD, …
These two groups of pathologies are highly heterogeneous and require combined clinical and molecular diagnoses to be securely identif …
Beyond retrograde and anterograde signalling: mitochondrial-nuclear interactions as a means for evolutionary adaptation and contemporary disease susceptibility.
Ballinger SW. Ballinger SW. Biochem Soc Trans. 2013 Feb 1;41(1):111-7. doi: 10.1042/BST20120227. Biochem Soc Trans. 2013. PMID: 23356268 Free PMC article. Review.
Although there is general agreement that most forms of common disease develop as a consequence of a combination of factors, including genetic, environmental and behavioural contributors, the actual mechanistic basis of how these factors initiate or promote diabetes, cancer …
Although there is general agreement that most forms of common disease develop as a consequence of a combination of factors, including …
The use of denaturing high-performance liquid chromatography (DHPLC) for the analysis of genetic variations: impact for diagnostics and pharmacogenetics.
Frueh FW, Noyer-Weidner M. Frueh FW, et al. Clin Chem Lab Med. 2003 Apr;41(4):452-61. doi: 10.1515/CCLM.2003.068. Clin Chem Lab Med. 2003. PMID: 12747586 Review.
The ability of DHPLC to detect known and unknown mutations simultaneously has put this technology at the forefront of genetic analysis for a wide variety of diseases. In addition, the high sensitivity of DHPLC combined with the accuracy of the heteroduplex analysis …
The ability of DHPLC to detect known and unknown mutations simultaneously has put this technology at the forefront of genetic analysis for a …
MRI of the brain in the Kearns-Sayre syndrome: report of four cases and a review.
Chu BC, Terae S, Takahashi C, Kikuchi Y, Miyasaka K, Abe S, Minowa K, Sawamura T. Chu BC, et al. Neuroradiology. 1999 Oct;41(10):759-64. doi: 10.1007/s002340050838. Neuroradiology. 1999. PMID: 10552027 Review.
Although MRI may be normal or show atrophy, the characteristic finding in KSS is a combination of the high-signal foci in subcortical cerebral white matter and in the brain stem, globus pallidus or thalamus....
Although MRI may be normal or show atrophy, the characteristic finding in KSS is a combination of the high-signal foci in subcortical …