Kolexia
Seferian Andreea Pédiatrie
Seferian Andreea
Pédiatrie
Hôpital Pitie Salpetriere
Paris, France
104 Activités
0 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Myopathie de Duchenne Dystrophies musculaires Atrophie Amyotrophie spinale Amyotrophie Maladies musculaires Myopathies congénitales structurales Maladies neuromusculaires Amyotrophies spinales infantiles

Collaborateurs

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Servais Laurent
Servais Laurent
Hôpital Armand Trousseau, Paris, France
Gidaro Teresa
Gidaro Teresa
Bioprojet Pharma, Paris, France
Voit Thomas
Voit Thomas
Hôpital Pitie Salpetriere, Paris, France
Cances Claude
Cances Claude
Hôpital Paule de Viguier, Toulouse, France

Industries

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Biogen
7 collaboration(s)
Dernière en 2023
B3TSI
4 collaboration(s)
Dernière en 2021
Roche
3 collaboration(s)
Dernière en 2023
Astellas
1 collaboration(s)
Dernière en 2020

Dernières activités

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PHENO SMART: Characterization of New Phenotypes of Patients With Spinal Muscular Atrophy Treated With SMN Restoring Therapy
Essai Clinique (Hospices Civils de Lyon)   14 mars 2024
Outcome Measures in Duchenne Muscular Dystrophy: A Natural History Study: Developing Tools for Assessing the Natural History of Ambulant and Non-ambulant DMD Individuals to Assist in Antisense-oligomer Clinical Trials
Essai Clinique (University College, London)   03 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
ASPIRO: A Phase 1/2/3, Randomized, Open-Label, Ascending-Dose, Delayed-Treatment Concurrent Control Clinical Study to Evaluate the Safety and Efficacy of AT132, an AAV8-Delivered Gene Therapy in X-Linked Myotubular Myopathy (XLMTM) Patients
Essai Clinique (Astellas)   19 décembre 2023
Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial.
EBioMedicine   11 décembre 2023
Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.
The Lancet. Neurology   20 novembre 2023
Titin copy number variations associated with dominant inherited phenotypes.
Journal of medical genetics   07 novembre 2023
P24 Safety and tolerability of Eteplirsen in patients 6–48 Months old with DMD amenable to exon 51 skipping: an open-label extension study
Neuromuscular disorders : NMD   01 octobre 2023
P149 Delayed pulmonary progression in Golodirsen-treated patients with Duchenne muscular dystrophy vs mutation-matched external controls
Neuromuscular disorders : NMD   01 octobre 2023
P147 Six-year long-term safety and efficacy of Golodirsen in patients with DMD vs mutation-matched external controls
Neuromuscular disorders : NMD   01 octobre 2023