Kolexia
Sternberg Damien Biologie médicale
Sternberg Damien
Biologie médicale
Hôpital Pitie Salpetriere
Paris, France
94 Activités
60 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Syndromes myasthéniques congénitaux Paralysie Maladies musculaires Myotonie Myotonie congénitale Troubles myotoniques Arthrogrypose Paralysie périodique hypokaliémique Laryngospasme

Collaborateurs

Voir plus
Eymard Bruno
Eymard Bruno
Hôpital Pitie Salpetriere, Paris, France
Fournier Emmanuel
Fournier Emmanuel
Hôpital Pitie Salpetriere, Paris, France
Fontaine Bertrand
Fontaine Bertrand
Hôpital Pitie Salpetriere, Paris, France
Vicart Savine
Vicart Savine
Hôpital Pitie Salpetriere, Paris, France

Industries

Voir plus
LUPIN ATLANTIS HOLDINGS SA
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

Voir plus
Translational Insights and Overall Survival in the U31402-A-U102 Study of Patritumab Deruxtecan (HER3-DXd) in EGFR-Mutated NSCLC.
Annals of oncology : official journal of the European Society for Medical Oncology   16 février 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
Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.
Neuropathology and applied neurobiology   20 décembre 2023
Congenital myasthenic syndromes with kinetic abnormalities of the acetylcholine receptor.
Medecine sciences : M/S   17 novembre 2023
Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ.
International journal of molecular sciences   11 novembre 2023
New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome.
Scientific reports   28 août 2023
Severe neonatal respiratory distress is part of the clinical spectrum of congenital myopathy with tremors associated with dominant MYBPC1 variants
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Congenital myasthenic syndrome by mutation of the ColQ gene: Phenotypic and evolutionary profile of three Algerian families.
Revue neurologique   08 février 2023
The high phenotypic variability of RYR1 gene mutations.
Medecine sciences : M/S   16 janvier 2023
Severe Antenatal Hypertrophic Cardiomyopathy Secondary to -Related Mitochondrial Complex I Deficiency.
Molecular syndromology   21 octobre 2022