Thérond P - Search Results

1

Expanding the phenotype of mitochondrial disease: Novel pathogenic variant in ISCA1 leading to instability of the iron-sulfur cluster in the protein.

Lebigot E, Hully M, Amazit L, Gaignard P, Michel T, Rio M, Lombès M, Thérond P, Boutron A, Golinelli-Cohen MP. Lebigot E, et al. Among authors: therond p. Mitochondrion. 2020 May;52:75-82. doi: 10.1016/j.mito.2020.02.008. Epub 2020 Feb 21. Mitochondrion. 2020. PMID: 32092383

2

Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients.

Lebigot E, Gaignard P, Dorboz I, Slama A, Rio M, de Lonlay P, Héron B, Sabourdy F, Boespflug-Tanguy O, Cardoso A, Habarou F, Ottolenghi C, Thérond P, Bouton C, Golinelli-Cohen MP, Boutron A. Lebigot E, et al. Among authors: therond p. Mol Genet Metab. 2017 Nov;122(3):85-94. doi: 10.1016/j.ymgme.2017.08.001. Epub 2017 Aug 3. Mol Genet Metab. 2017. PMID: 28803783

3

UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia.

Gaignard P, Eyer D, Lebigot E, Oliveira C, Therond P, Boutron A, Slama A. Gaignard P, et al. Among authors: therond p. J Hum Genet. 2017 Jul;62(7):729-731. doi: 10.1038/jhg.2017.22. Epub 2017 Mar 9. J Hum Genet. 2017. PMID: 28275242

4

Mitochondrial dysfunction caused by novel ATAD3A mutations.

Dorison N, Gaignard P, Bayot A, Gelot A, Becker PH, Fourati S, Lebigot E, Charles P, Wai T, Therond P, Slama A. Dorison N, et al. Among authors: therond p. Mol Genet Metab. 2020 Sep-Oct;131(1-2):107-113. doi: 10.1016/j.ymgme.2020.09.002. Epub 2020 Sep 9. Mol Genet Metab. 2020. PMID: 32933822 Free article.

5

Sex differences in brain mitochondrial metabolism: influence of endogenous steroids and stroke.

Gaignard P, Fréchou M, Liere P, Thérond P, Schumacher M, Slama A, Guennoun R. Gaignard P, et al. Among authors: therond p. J Neuroendocrinol. 2018 Feb;30(2). doi: 10.1111/jne.12497. J Neuroendocrinol. 2018. PMID: 28650095 Review.

6

Role of Sex Hormones on Brain Mitochondrial Function, with Special Reference to Aging and Neurodegenerative Diseases.

Gaignard P, Liere P, Thérond P, Schumacher M, Slama A, Guennoun R. Gaignard P, et al. Among authors: therond p. Front Aging Neurosci. 2017 Dec 7;9:406. doi: 10.3389/fnagi.2017.00406. eCollection 2017. Front Aging Neurosci. 2017. PMID: 29270123 Free PMC article. Review.

7

Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients.

Lebigot E, Brassier A, Zater M, Imanci D, Feillet F, Thérond P, de Lonlay P, Boutron A. Lebigot E, et al. Among authors: therond p. J Inherit Metab Dis. 2015 Sep;38(5):881-7. doi: 10.1007/s10545-014-9804-6. Epub 2015 Jan 20. J Inherit Metab Dis. 2015. PMID: 25601412

8

Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia.

Becker PH, Demir Z, Mozer Glassberg Y, Sevin C, Habes D, Imbard A, Mussini C, Rozenfeld Bar Lev M, Davit-Spraul A, Benoist JF, Thérond P, Slama A, Jacquemin E, Gonzales E, Gaignard P. Becker PH, et al. Among authors: therond p. Mol Genet Metab. 2021 Jan;132(1):38-43. doi: 10.1016/j.ymgme.2020.11.007. Epub 2020 Nov 28. Mol Genet Metab. 2021. PMID: 33309011

9

Cholesterol accumulation induced by acetylated LDL exposure modifies the enzymatic activities of the TCA cycle without impairing the respiratory chain functionality in macrophages.

Becker PH, Le Guillou E, Duque M, Blondel A, Gons C, Ben Souna H, Imbard A, Fournier N, Gaignard P, Thérond P. Becker PH, et al. Among authors: therond p. Biochimie. 2022 Sep;200:87-98. doi: 10.1016/j.biochi.2022.05.011. Epub 2022 May 23. Biochimie. 2022. PMID: 35618159

10

Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases.

Gaignard P, Gonzales E, Ackermann O, Labrune P, Correia I, Therond P, Jacquemin E, Slama A. Gaignard P, et al. Among authors: therond p. JIMD Rep. 2013;11:117-23. doi: 10.1007/8904_2013_230. Epub 2013 Apr 27. JIMD Rep. 2013. PMID: 23625533 Free PMC article.

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