Kolexia
Romero Norma Beatriz Pédiatrie
Romero Norma Beatriz
Pédiatrie
Hôpital Pitie Salpetriere
Paris, France
320 Activités
2 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Maladies musculaires Myopathies congénitales structurales Myopathies némaline Dystrophies musculaires Faiblesse musculaire Dystrophies musculaires des ceintures Rhabdomyolyse Myopathies distales Prédisposition génétique à une maladie

Collaborateurs

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Malfatti Edoardo
Malfatti Edoardo
Hôpital Henri Mondor, Créteil, France
Eymard Bruno
Eymard Bruno
Hôpital Pitie Salpetriere, Paris, France
Laforet Pascal
Laforet Pascal
Hôpital Raymond-Poincaré, Garches, France
Quijano-Roy Susana
Quijano-Roy Susana
Hôpital Raymond-Poincaré, Garches, France

Industries

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Dernières activités

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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Nature genetics   01 mars 2024
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
The Journal of clinical investigation   01 février 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
Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene.
Stem cell research   22 novembre 2023
Human skeletal myopathy myosin mutations disrupt myosin head sequestration.
JCI insight   08 novembre 2023
SEVERE RESPIRATORY AND SWALLOWING DISORDERS IN INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE AND PANCREATIC DISEASE: DESCRIPTION OF TWO CASES.
2023 PNS Annual Meeting – Copenhagen, 17‐20 June 2023   09 octobre 2023
P156 Muscle biopsy findings in a large cohort of patients affected by valosin containing protein disease: preliminary analysis of the international multicentric VCP study
Neuromuscular disorders : NMD   01 octobre 2023
Myofibrillar myopathy hallmarks associated with ZAK deficiency.
Human molecular genetics   30 août 2023
Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohort.
European journal of neurology   25 mai 2023
Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation.
eLife   21 avril 2023