Kolexia
Metay Corinne Pharmacien
Metay Corinne
Pharmacien
Hôpital Pitie Salpetriere
Paris, France
65 Activités
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{{person.topmesh1.name}} Maladies musculaires Dystrophies musculaires Cardiomyopathies Délétion de segment de chromosome Syndrome d'Ehlers-Danlos Maladies chromosomiques Myopathies congénitales structurales Tachycardie ventriculaire Dystrophies musculaires des ceintures

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Richard Pascale
Richard Pascale
Hôpital Pitie Salpetriere, Paris, France
Malfatti Edoardo
Malfatti Edoardo
Hôpital Henri Mondor, Créteil, France
Carlier Robert
Carlier Robert
Hôpital Raymond-Poincaré, Garches, France
Laforet Pascal
Laforet Pascal
Hôpital Raymond-Poincaré, Garches, France

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Dernières activités

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The Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability.
Biomedicines   30 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
OPALE: Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)
Essai Clinique (Hôpital Pitie Salpetriere)   13 décembre 2023
Titin copy number variations associated with dominant inherited phenotypes.
Journal of medical genetics   07 novembre 2023
P342 An early onset benign myopathy with glycogen storage caused by a de novo 1.3 microdeletion of chromosome 14
Neuromuscular disorders : NMD   01 octobre 2023
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14.
Neuromuscular disorders : NMD   25 août 2023
Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy.
International journal of molecular sciences   06 juillet 2023
Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant.
Acta neuropathologica communications   21 mars 2023
A severe case of -related kyphoscoliotic Ehlers-Danlos syndrome associated with several arterial and venous complications: A case report.
Clinical case reports   27 février 2023
LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.
Journal of neuromuscular diseases   10 janvier 2023