Kolexia
Gaignard Pauline Pharmacien
Gaignard Pauline
Pharmacien
Hôpital Bicêtre
Le Kremlin-Bicêtre, France
59 Activités
55 Followers
Scientifique
Digital
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Sujets de recherche
{{person.topmesh1.name}} Maladies mitochondriales Défaillance hépatique Maladies du foie Encéphalopathies Athérosclérose Accident vasculaire cérébral Prédisposition génétique à une maladie Acidose lactique Dystrophie musculaire oculopharyngée

Collaborateurs

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Slama Abdelhamid
Slama Abdelhamid
Hôpital Bicêtre, Le Kremlin-Bicêtre, France
Therond Patrice
Therond Patrice
Hôpital Bicêtre, Le Kremlin-Bicêtre, France
Lebigot Elise
Lebigot Elise
Hôpital Bicêtre, Le Kremlin-Bicêtre, France
Schiff Manuel
Schiff Manuel
Hôpital Necker Enfants Malades, Paris, France

Industries

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Dernières activités

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New description of an MRPS2 homozygous patient: Further features to help expend the phenotype.
European journal of medical genetics   27 novembre 2023
Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria.
Brain : a journal of neurology   07 octobre 2023
Targeting mitochondrial function in macrophages: A novel treatment strategy for atherosclerotic cardiovascular disease?
Pharmacology & therapeutics   16 mai 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
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genetics in medicine : official journal of the American College of Medical Genetics   13 avril 2023
MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy.
Brain : a journal of neurology   03 mars 2023
UQCRC2-related mitochondrial complex III deficiency, about 7 patients.
Mitochondrion   09 décembre 2022
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genetics in medicine : official journal of the American College of Medical Genetics   29 octobre 2022
Cholesterol accumulation induced by acetylated LDL exposure modifies the enzymatic activities of the TCA cycle without impairing the respiratory chain functionality in macrophages.
Biochimie   23 mai 2022
Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory.
Clinical chemistry   13 avril 2022