Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

85 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment.
Hechmi M, Charif M, Kraoua I, Fassatoui M, Dallali H, Desquiret-Dumas V, Bris C, Goudenège D, Drissi C, Galaï S, Ouerhani S, Procaccio V, Amati-Bonneau P, Abdelhak S, Ben Youssef-Turki I, Lenaers G, Kefi R. Hechmi M, et al. Among authors: bris c. Biosci Rep. 2022 Sep 30;42(9):BSR20220194. doi: 10.1042/BSR20220194. Biosci Rep. 2022. PMID: 36093993 Free PMC article.
Perspectives of drug-based neuroprotection targeting mitochondria.
Procaccio V, Bris C, Chao de la Barca JM, Oca F, Chevrollier A, Amati-Bonneau P, Bonneau D, Reynier P. Procaccio V, et al. Among authors: bris c. Rev Neurol (Paris). 2014 May;170(5):390-400. doi: 10.1016/j.neurol.2014.03.005. Epub 2014 May 1. Rev Neurol (Paris). 2014. PMID: 24792485 Review.
OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology.
Chao de la Barca JM, Prunier-Mirebeau D, Amati-Bonneau P, Ferré M, Sarzi E, Bris C, Leruez S, Chevrollier A, Desquiret-Dumas V, Gueguen N, Verny C, Hamel C, Miléa D, Procaccio V, Bonneau D, Lenaers G, Reynier P. Chao de la Barca JM, et al. Among authors: bris c. Neurobiol Dis. 2016 Jun;90:20-6. doi: 10.1016/j.nbd.2015.08.015. Epub 2015 Aug 23. Neurobiol Dis. 2016. PMID: 26311407
The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.
Chao de la Barca JM, Simard G, Amati-Bonneau P, Safiedeen Z, Prunier-Mirebeau D, Chupin S, Gadras C, Tessier L, Gueguen N, Chevrollier A, Desquiret-Dumas V, Ferré M, Bris C, Kouassi Nzoughet J, Bocca C, Leruez S, Verny C, Miléa D, Bonneau D, Lenaers G, Martinez MC, Procaccio V, Reynier P. Chao de la Barca JM, et al. Among authors: bris c. Brain. 2016 Nov 1;139(11):2864-2876. doi: 10.1093/brain/aww222. Brain. 2016. PMID: 27633772
The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model.
Frey S, Geffroy G, Desquiret-Dumas V, Gueguen N, Bris C, Belal S, Amati-Bonneau P, Chevrollier A, Barth M, Henrion D, Lenaers G, Bonneau D, Reynier P, Procaccio V. Frey S, et al. Among authors: bris c. Biochim Biophys Acta Mol Basis Dis. 2017 Jan;1863(1):284-291. doi: 10.1016/j.bbadis.2016.10.028. Epub 2016 Nov 1. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 27815040 Free article.
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.
Charif M, Nasca A, Thompson K, Gerber S, Makowski C, Mazaheri N, Bris C, Goudenège D, Legati A, Maroofian R, Shariati G, Lamantea E, Hopton S, Ardissone A, Moroni I, Giannotta M, Siegel C, Strom TM, Prokisch H, Vignal-Clermont C, Derrien S, Zanlonghi X, Kaplan J, Hamel CP, Leruez S, Procaccio V, Bonneau D, Reynier P, White FE, Hardy SA, Barbosa IA, Simpson MA, Vara R, Perdomo Trujillo Y, Galehdari H, Deshpande C, Haack TB, Rozet JM, Taylor RW, Ghezzi D, Amati-Bonneau P, Lenaers G. Charif M, et al. Among authors: bris c. JAMA Neurol. 2018 Jan 1;75(1):105-113. doi: 10.1001/jamaneurol.2017.2065. JAMA Neurol. 2018. PMID: 29181510 Free PMC article.
The accumulation of assembly intermediates of the mitochondrial complex I matrix arm is reduced by limiting glucose uptake in a neuronal-like model of MELAS syndrome.
Geffroy G, Benyahia R, Frey S, Desquiret-Dumas V, Gueguen N, Bris C, Belal S, Inisan A, Renaud A, Chevrollier A, Henrion D, Bonneau D, Letournel F, Lenaers G, Reynier P, Procaccio V. Geffroy G, et al. Among authors: bris c. Biochim Biophys Acta Mol Basis Dis. 2018 May;1864(5 Pt A):1596-1608. doi: 10.1016/j.bbadis.2018.02.005. Epub 2018 Feb 14. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 29454073 Free article.
eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data.
Goudenège D, Bris C, Hoffmann V, Desquiret-Dumas V, Jardel C, Rucheton B, Bannwarth S, Paquis-Flucklinger V, Lebre AS, Colin E, Amati-Bonneau P, Bonneau D, Reynier P, Lenaers G, Procaccio V. Goudenège D, et al. Among authors: bris c. Genet Med. 2019 Jun;21(6):1407-1416. doi: 10.1038/s41436-018-0350-8. Epub 2018 Nov 5. Genet Med. 2019. PMID: 30393377 Free article.
85 results