Kolexia
Rouzier Cecile
Génétique médicale
Hôpital De l'Archet
Nice, France
74 Activités
58 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Maladies mitochondriales Démence frontotemporale Sclérose latérale amyotrophique Maladies du motoneurone Syndrome de Wolfram Sclérose Atrophie optique Atrophie Démence

Industries

Pfizer
2 collaboration(s)
Dernière en 2023
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Dernières activités

ANAMETAB-PRO: Multicentric Prospective Study to Screen Inborn Errors of Metabolism in Non-immune Hydrops Fetalis by Massively Parallel Sequencing
Essai Clinique (Hospices Civils de Lyon)   19 mars 2024
A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations.
Genes   29 novembre 2023
Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.
EMBO molecular medicine   11 juillet 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
UQCRC2-related mitochondrial complex III deficiency, about 7 patients.
Mitochondrion   09 décembre 2022
The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients.
Digestive diseases and sciences   31 octobre 2022
Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability.
European journal of medical genetics   14 octobre 2022
A novel variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.
Ophthalmic genetics   12 septembre 2022
Enfermedades mitocondriales
EMC. Pediatria   01 juin 2022
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.
Human molecular genetics   31 janvier 2022