Kolexia
Procaccio Vincent Biologie médicale
Procaccio Vincent
Biologie médicale
Hôpital Larrey Angers
Angers, France
212 Activités
391 Followers
Scientifique
Digital
Production scientifique
Activités par an
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Sujets de recherche
{{person.topmesh1.name}} Maladies mitochondriales Atrophie optique Atrophie optique autosomique dominante Atrophie Atteintes du nerf optique Atrophie optique héréditaire de Leber Syndrome MELAS Maladie de Charcot-Marie-Tooth Déficience intellectuelle

Collaborateurs

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Reynier Pascal
Reynier Pascal
Hôpital Larrey Angers, Angers, France
Bonneau Dominique
Bonneau Dominique
Hôpital Larrey Angers, Angers, France
Bonneau Patrizia
Bonneau Patrizia
Hôpital Larrey Angers, Angers, France
Bris Céline
Bris Céline
Hôpital Larrey Angers, Angers, France

Industries

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Health Advances
2 collaboration(s)
Dernière en 2020
Zogenix International Limited
2 collaboration(s)
Dernière en 2021
Medicys Limited
1 collaboration(s)
Dernière en 2020
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Dernière en {{person.topindus4.last}}

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
MITOMICS: Interest of Multi-omics (WES / RNA-Seq) Approach to Fight Against the Diagnostic Deadlock in Mitochondrial Diseases
Essai Clinique (CHU Nice)   11 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
APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants.
Nature communications   19 août 2023
Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!
Annals of clinical and translational neurology   25 juillet 2023
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Genetics in medicine : official journal of the American College of Medical Genetics   13 juillet 2023
Changes in Gene Expression After Exposing Arabidopsis thaliana Plants to Nanosecond High Amplitude Electromagnetic Field Pulses.
Bioelectromagnetics   06 juillet 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