Perspectives of drug-based neuroprotection targeting mitochondria V Procaccio, C Bris, JMC De La Barca, F Oca, A Chevrollier, ... Revue neurologique 170 (5), 390-400, 2014 | 82 | 2014 |
OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases G Sturm, KR Karan, AS Monzel, B Santhanam, T Taivassalo, C Bris, ... Communications biology 6 (1), 22, 2023 | 72 | 2023 |
eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data D Goudenège, C Bris, V Hoffmann, V Desquiret-Dumas, C Jardel, ... Genetics in Medicine 21 (6), 1407-1416, 2019 | 62 | 2019 |
Bioinformatics tools and databases to assess the pathogenicity of mitochondrial DNA variants in the field of next generation sequencing C Bris, D Goudenege, V Desquiret-Dumas, M Charif, E Colin, D Bonneau, ... Frontiers in genetics 9, 632, 2018 | 61 | 2018 |
Deep sequencing shows that oocytes are not prone to accumulate mtDNA heteroplasmic mutations during ovarian ageing L Boucret, C Bris, V Seegers, D Goudenège, V Desquiret-Dumas, ... Human Reproduction 32 (10), 2101-2109, 2017 | 58 | 2017 |
The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model S Frey, G Geffroy, V Desquiret-Dumas, N Gueguen, C Bris, S Belal, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1863 (1), 284-291, 2017 | 58 | 2017 |
OPA1-related disorders: diversity of clinical expression, modes of inheritance and pathophysiology JMC de La Barca, D Prunier-Mirebeau, P Amati-Bonneau, M Ferré, ... Neurobiology of disease 90, 20-26, 2016 | 54 | 2016 |
The metabolomic signature of Leber’s hereditary optic neuropathy reveals endoplasmic reticulum stress JM Chao de la Barca, G Simard, P Amati-Bonneau, Z Safiedeen, ... Brain 139 (11), 2864-2876, 2016 | 51 | 2016 |
Metabo-lipidomics of fibroblasts and mitochondrial-endoplasmic reticulum extracts from ALS patients shows alterations in purine, pyrimidine, energetic, and phospholipid metabolisms C Veyrat-Durebex, C Bris, P Codron, C Bocca, S Chupin, P Corcia, ... Molecular neurobiology 56, 5780-5791, 2019 | 43 | 2019 |
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy M Charif, A Chevrollier, N Gueguen, C Bris, D Goudenège, ... Neurology: Genetics 6 (3), e428, 2020 | 42 | 2020 |
A multi-omics longitudinal aging dataset in primary human fibroblasts with mitochondrial perturbations G Sturm, AS Monzel, KR Karan, J Michelson, SA Ware, A Cardenas, J Lin, ... Scientific Data 9 (1), 751, 2022 | 37 | 2022 |
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy M Charif, N Gueguen, M Ferré, Z Elkarhat, S Khiati, M Lemao, ... Brain Communications 3 (2), fcab063, 2021 | 37 | 2021 |
Cellular allostatic load is linked to increased energy expenditure and accelerated biological aging N Bobba-Alves, G Sturm, J Lin, SA Ware, KR Karan, AS Monzel, C Bris, ... Psychoneuroendocrinology 155, 106322, 2023 | 35 | 2023 |
Variants in mitochondrial ATP synthase cause variable neurologic phenotypes M Zech, R Kopajtich, K Steinbrücker, C Bris, N Gueguen, RG Feichtinger, ... Annals of neurology 91 (2), 225-237, 2022 | 34 | 2022 |
Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults M Charif, A Nasca, K Thompson, S Gerber, C Makowski, N Mazaheri, ... JAMA neurology 75 (1), 105-113, 2018 | 34 | 2018 |
Immunoassays for measuring serum concentrations of monoclonal antibodies and anti-biopharmaceutical antibodies in patients F Darrouzain, S Bian, C Desvignes, C Bris, H Watier, G Paintaud, ... Therapeutic drug monitoring 39 (4), 316-321, 2017 | 34 | 2017 |
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 G Geffroy, R Benyahia, S Frey, V Desquiret-Dumas, N Gueguen, C Bris, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1864 (5 …, 2018 | 27 | 2018 |
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light P Garret, C Bris, V Procaccio, P Amati‐Bonneau, P Vabres, N Houcinat, ... Human Mutation 40 (12), 2430-2443, 2019 | 18 | 2019 |
Mitochondrial DNA content reduction in the most fertile spermatozoa is accompanied by increased mitochondrial DNA rearrangement M Boguenet, V Desquiret-Dumas, D Goudenège, C Bris, L Boucret, ... Human Reproduction 37 (4), 669-679, 2022 | 17 | 2022 |
Use of next-generation sequencing for the molecular diagnosis of 1,102 patients with a autosomal optic neuropathy M Charif, C Bris, D Goudenège, V Desquiret-Dumas, E Colin, A Ziegler, ... Frontiers in Neurology 12, 602979, 2021 | 17 | 2021 |