Kolexia
Rendu John
Pharmacien
Hôpital Nord Grenoble
La Tronche, France
116 Activités
1.5 K Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Maladies musculaires Syndrome de Lowe Myopathies némaline Prédisposition génétique à une maladie Arthrogrypose Hyperthermie Hyperthermie maligne Maladies neuromusculaires Myopathies congénitales structurales

Industries

Sanofi
1 collaboration(s)
Dernière en 2023
{{person.topindus2.name}}
{{person.topindus2.tot}} collaboration(s)
Dernière en {{person.topindus2.last}}
{{person.topindus3.name}}
{{person.topindus3.tot}} collaboration(s)
Dernière en {{person.topindus3.last}}
{{person.topindus4.name}}
{{person.topindus4.tot}} collaboration(s)
Dernière en {{person.topindus4.last}}

Dernières activités

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
Muscular phenotype description of abnormal THOC2 splicing.
Neuromuscular disorders : NMD   05 octobre 2023
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Brain : a journal of neurology   03 août 2023
Gene therapy strategies using CRISPR/Cas9 for RyR1-related myopathies
Biophysical journal   10 février 2023
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.
Human genomics   10 février 2023
Gene therapies for RyR1-related myopathies.
Current opinion in pharmacology   16 décembre 2022
Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract.
Heliyon   10 décembre 2022
NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.
Molecular genetics and genomics : MGG   24 août 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
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.
Acta neuropathologica communications   09 juillet 2022