Kolexia
Cerino Mathieu Pharmacien
Cerino Mathieu
Pharmacien
Hôpital La Conception
Marseille, France
44 Activités
121 Followers
Scientifique
Digital
Production scientifique
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Expertise
Sujets de recherche
{{person.topmesh1.name}} Maladies musculaires Maladies neuromusculaires Myopathies distales Prédisposition génétique à une maladie Dystrophies musculaires Dystrophies musculaires des ceintures Syndrome coronarien aigu Lipodystrophie Maladie de Charcot-Marie-Tooth

Collaborateurs

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Krahn Martin
Krahn Martin
Hôpital La Timone Enfants, Marseille, France
Levy Nicolas
Levy Nicolas
Institut De Recherches Internationales Servier, Suresnes, France
Gorokhova Svetlana
Gorokhova Svetlana
Hôpital La Timone Enfants, Marseille, France
Campana-Salort Emmanuelle
Campana-Salort Emmanuelle
Hôpital La Timone, Marseille, France

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Dernières activités

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Perilipin 1: a systematic review on its functions on lipid metabolism and atherosclerosis in mice and humans.
Cardiovascular research   12 janvier 2024
Objective evaluation of clinical actionability for genes involved in myopathies: 63 genes with a medical value for patient care
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
O.12 Novel functional test to distinguish between variants causing dominant and recessive forms of calpainopathy
Neuromuscular disorders : NMD   01 octobre 2022
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.
International journal of molecular sciences   31 juillet 2022
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
Genes   16 juin 2022
Objective evaluation of clinical actionnability for genes involved in myopathies: 51 promising genes
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.
Genes   09 février 2022
A novel SUPT5H variant associated with a beta-thalassaemia trait.
British journal of haematology   01 décembre 2021
Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder.
Clinica chimica acta; international journal of clinical chemistry   28 novembre 2021
The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions.
Frontiers in cell and developmental biology   23 novembre 2021