Publications by authors named "Celine Bris"

21Publications

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.

Neurol Genet 2020 Jun 20;6(3):e428. Epub 2020 May 20.

MitoLab Team (M.C., A.C., C.B., D.G., V.D.-D., S.L., V.P., P.R., D.B., P.A.-B., G.L.), UMR CNRS 6015-INSERM U1083, Institut MitoVasc, Angers University and Hospital; Genetics and immuno-cell therapy Team (M.C.), Mohammed First University, Oujda, Morocco; Departments of Biochemistry and Genetics (C.B., D.G., V.D.-D., E.C., V.P., P.R., D.B., P.A.-B.), University Hospital Angers; Department of Ophthalmology (A.M.), Centre Hospitalier Universitaire Saint-Pierre, Brussels, Belgium; Neuroophthalmology Department (C.V.), Rothschild Ophthalmologic Foundation, Paris; Exploration of Visual Function and Neuro-Ophthalmology Department (V.S., S.D.-D., I.D.B.), Lille University Hospital, Rue Emilie Laine, Lille Cedex; CHU Bordeaux (C.G.), Service de Génétique Médicale, Centre de Référence « Neurogénétique » and Université de Bordeaux, INSERM U 1211, Laboratoire Maladies Rares, Génétique et Métabolisme (MRGM) Bordeaux; School of Optometry and Vision Sciences (M.V.), Cardiff University and Cardiff Eye Unit, University Hospital of Wales; NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology (N.J., P.Y.-W.-M.), London; Department of Clinical Neurosciences (P.Y.-W.-M.), Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit, University of Cambridge; Cambridge Eye Unit (P.Y.-W.-M.), Addenbrooke's Hospital, Cambridge University Hospitals, UK; IRCCS Istituto Delle Scienze Neurologiche di Bologna (F.T., L.C., C.L.M., V.C.), Bellaria Hospital; Unit of Neurology (C.L.M., V.C.), Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Italy; Centre de Compétence Maladies Rares (X.Z.), Clinique Pluridisciplinaire Jules Verne, Nantes; and National Centre in Rare Diseases (I.M.), Genetics of Sensory Diseases, University Hospital, Montpellier, France.

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http://dx.doi.org/10.1212/NXG.0000000000000428DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7251510PMC
June 2020

First characterization of LHON pedigrees in North Africa.

Eye (Lond) 2020 Nov 2;34(11):2138-2139. Epub 2020 Jan 2.

MitoLab team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Université d'Angers, Angers, France.

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http://dx.doi.org/10.1038/s41433-019-0755-xDOI Listing
November 2020

Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs.

J Matern Fetal Neonatal Med 2019 Sep 12:1-4. Epub 2019 Sep 12.

Department of Biochemistry and Genetics, Angers University Hospital , Angers , France.

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http://dx.doi.org/10.1080/14767058.2019.1657084DOI Listing
September 2019

Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability.

Clin Genet 2019 10 17;96(4):354-358. Epub 2019 Jul 17.

Département de Biochimie et Génétique du CHU d'Angers, Centre Hospitalier Universitaire d'Angers, Angers, France.

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http://dx.doi.org/10.1111/cge.13603DOI Listing
October 2019

High mitochondrial DNA copy number is associated with longer survival in young patients with glioblastoma.

Neuro Oncol 2019 Apr 26. Epub 2019 Apr 26.

Department of Genetic Biochemistry, University Hospital of Angers and MitoLab, MitoVasc Institute, National Institute of Health and Medical Research (INSERM), University of Angers, Angers, France.

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http://dx.doi.org/10.1093/neuonc/noz072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6682206PMC
April 2019

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.

Biochim Biophys Acta Mol Basis Dis 2018 May 14;1864(5 Pt A):1596-1608. Epub 2018 Feb 14.

UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, Angers, France; Biochemistry and Genetics Department, Angers Hospital, F-49000, France. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2018.02.005DOI Listing
May 2018

Novel gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia.

Neurol Genet 2017 Dec 11;3(6):e205. Epub 2017 Dec 11.

UMR CNRS 6015-INSERM U1083 (C.B., V.D.-D., N.G., D.G., M.B., D.B., P.A.-B., G.L., P.R., V.P.), Mitovasc Institute, Angers University, France; Department of Biochemistry and Genetics (C.B., V.D.-D., N.G., D.G., M.B., D.B., P.A.-B., G.L., P.R., V.P.), University Hospital of Angers, France; Department of Neurology (T.R.), University Hospital of Nantes, France; and CHU Reims (A.-S.L.), Hôpital Maison Blanche, Pole de biologie, Service de génétique, France.

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http://dx.doi.org/10.1212/NXG.0000000000000205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733248PMC
December 2017

Immunoassays for Measuring Serum Concentrations of Monoclonal Antibodies and Anti-biopharmaceutical Antibodies in Patients.

Ther Drug Monit 2017 08;39(4):316-321

*Université François-Rabelais de Tours, CNRS, GICC UMR 7292, Tours, France; †Unit of Pharmacology-Toxicology, CHRU de Tours, Tours, France; ‡Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Leuven, Belgium; §Department of Biochemistry and Genetics, Université d'Angers, Angers, France; ¶Department of Immunology, CHRU de Tours, Tours, France; and ‖Biologicals Lab, Sanquin Diagnostic Services, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1097/FTD.0000000000000419DOI Listing
August 2017

The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model.

Biochim Biophys Acta Mol Basis Dis 2017 01 1;1863(1):284-291. Epub 2016 Nov 1.

UMR CNRS 6214-INSERM U1083, Mitovasc Institute, Angers University, Angers, France; Biochemistry and Genetics Department, Angers Hospital, F-49000, France. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2016.10.028DOI Listing
January 2017

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology.

Neurobiol Dis 2016 Jun 23;90:20-6. Epub 2015 Aug 23.

Centre Hospitalier Universitaire, Département de Biochimie et Génétique, Angers, France; UMR CNRS 6214-INSERM 1083, Université d'Angers, Angers, France. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2015.08.015DOI Listing
June 2016