Kolexia
Bris Céline Pharmacien
Bris Céline
Pharmacien
Hôpital Larrey Angers
Angers, France
77 Activités
258 Followers
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Sujets de recherche
{{person.topmesh1.name}} Maladies mitochondriales Atrophie optique Atrophie Atteintes du nerf optique Atrophie optique autosomique dominante Syndrome MELAS Épilepsie Glioblastome Atrophie optique héréditaire de Leber

Collaborateurs

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Procaccio Vincent
Procaccio Vincent
Hôpital Larrey Angers, Angers, France
Bonneau Dominique
Bonneau Dominique
Hôpital Larrey Angers, Angers, France
Reynier Pascal
Reynier Pascal
Hôpital Larrey Angers, Angers, France
Bonneau Patrizia
Bonneau Patrizia
Hôpital Larrey Angers, Angers, France

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Dernières activités

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De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Genetics in medicine : official journal of the American College of Medical Genetics   27 janvier 2024
Urine-derived cells: a non-invasive approach to the analysis of mitochondrial functions and mitochondrial diseases diagnosis
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Brain : a journal of neurology   28 septembre 2023
Cellular allostatic load is linked to increased energy expenditure and accelerated biological aging.
Psychoneuroendocrinology   14 juin 2023
MITODIAG: A French network of diagnostic laboratories for mitochondrial diseases
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases.
Communications biology   12 janvier 2023
A multi-omics longitudinal aging dataset in primary human fibroblasts with mitochondrial perturbations.
Scientific data   03 décembre 2022
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.
Nature communications   11 novembre 2022
Highly asymmetrical distribution of muscle wasting correlates to the heteroplasmy in a patient carrying a large-scale mitochondrial DNA deletion: a novel pathophysiological mechanism for explaining asymmetry in mitochondrial myopathies.
Neuromuscular disorders : NMD   27 octobre 2022
Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment.
Bioscience reports   23 septembre 2022