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BMJ Open|April 20, 2024
Patient preferences in genetic newborn screening for rare diseases: study protocolSylvia Martin, Emanuele Angolini, Jennifer Audi, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 15, 2024
2024 update: European consensus statement on gene therapy for spinal muscular atrophyJanbernd Kirschner, Günther Bernert, Nina Butoianu, et al.EMBO Molecular Medicine|January 5, 2024
Efficient and safe therapeutic use of paired Cas9-nickases for primary hyperoxaluria type 1Laura Torella, Julia Klermund, Martin Bilbao-Arribas, et al.European Journal of Human Genetics : EJHG|September 19, 2019
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variantSunitha Balaraju, Ana Töpf, Grace McMacken, et al.Orphanet Journal of Rare Diseases|May 12, 2019
Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trialSven Dittrich, Erika Graf, Regina Trollmann, et al.Journal of Neuromuscular Diseases|January 22, 2024
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE RegistryLaurent Servais, John W Day, Darryl C De Vivo, et al.European Journal of Neurology|July 15, 2022
Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo-controlled, dose-finding trial followed by 24 months of treatmentEugenio Mercuri, Giovanni Baranello, Odile Boespflug-Tanguy, et al.Journal of Neurology|February 3, 2023
Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)Maryam Oskoui, John W Day, Nicolas Deconinck, et al.The Journal of Allergy and Clinical Immunology|August 18, 2023
Gene editing of hematopoietic stem cells restores T-cell response in familial hemophagocytic lymphohistiocytosisViviane Dettmer-Monaco, Kristoffer Weißert, Sandra Ammann, et al.Nature Communications|February 25, 2026
ERCC6L2 ensures repair fidelity for staggered-end DNA double-strand breaksEric J Aird, Almudena Serrano-Benitez, Sebastian M Siegner, et al.Pageof 32