Kolexia
Bonneau Patrizia
Médecine générale
Hôpital Larrey Angers
Angers, France
102 Activités
0 Followers

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{{person.topmesh1.name}} Atrophie optique Atrophie optique autosomique dominante Atrophie Maladies mitochondriales Atteintes du nerf optique Atrophie optique héréditaire de Leber Ataxie Perte d'audition Maladie de Charcot-Marie-Tooth

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B3TSI
2 collaboration(s)
Dernière en 2021
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Dernières activités

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
MITODIAG: A French network of diagnostic laboratories for mitochondrial diseases
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands.
Brain : a journal of neurology   15 février 2023
Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment.
Bioscience reports   23 septembre 2022
Next-Generation Sequencing Identifies Novel Variants in Patients with Late-Onset Dominant Optic Atrophy.
Genes   05 juillet 2022
Neuropsychological Features of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series.
Frontiers in psychiatry   07 avril 2022
Loss of function of in mice induces deafness and cochlear outer hair cells' degeneration.
Cell death discovery   29 janvier 2022
A ROD-CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY.
Retina (Philadelphia, Pa.)   07 janvier 2022
NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome.
Human mutation   09 décembre 2021
A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies.
Human molecular genetics   04 octobre 2021