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T Darras

Showing results (241-250 of 303) with videos related to

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The Lancet. Neurology|October 16, 2022
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trialRiccardo Masson, Maria Mazurkiewicz-Bełdzińska, Kristy Rose, et al.
The Journal of Clinical Investigation|May 9, 2024
Hepatocyte-intrinsic SMN deficiency drives metabolic dysfunction and liver steatosis in spinal muscular atrophyDamien Meng-Kiat Leow, Yang Kai Ng, Loo Chien Wang, et al.
Muscle & Nerve|January 22, 2026
Liver Steatosis in Induced Hepatocytes From Carriers of Spinal Muscular AtrophyLingyu Sun, Damien Meng Kiat Leow, Loo Chien Wang, et al.
The New England Journal of Medicine|November 2, 2017
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular AtrophyRichard S Finkel, Eugenio Mercuri, Basil T Darras, et al.
Neurogenetics|February 29, 2012
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicoresSteven E Boyden, Lane J Mahoney, Genri Kawahara, et al.
Neurology|March 24, 2019
X-linked myotubular myopathy: A prospective international natural history studyMélanie Annoussamy, Charlotte Lilien, Teresa Gidaro, et al.
Neuromuscular Disorders : NMD|February 4, 2026
Refining functional phenotypes in an international cohort of untreated paediatric type 2 and 3 SMA patients using the Revised Hammersmith ScaleE Milev, G Stimpson, D Ramsey, et al.
The New England Journal of Medicine|February 15, 2018
Nusinersen versus Sham Control in Later-Onset Spinal Muscular AtrophyEugenio Mercuri, Basil T Darras, Claudia A Chiriboga, et al.
Plos One|February 22, 2017
Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment toolDanielle Ramsey, Mariacristina Scoto, Anna Mayhew, et al.
Nature Communications|March 5, 2025
Analysis of human urinary extracellular vesicles reveals disordered renal metabolism in myotonic dystrophy type 1Preeti Kumari, Lauren M Sullivan, Zhaozhi Li, et al.
Pageof 31

Showing results (241-250 of 303) with videos related to

Sort By:
Pageof 31
The Lancet. Neurology|October 16, 2022
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trialRiccardo Masson, Maria Mazurkiewicz-Bełdzińska, Kristy Rose, et al.
The Journal of Clinical Investigation|May 9, 2024
Hepatocyte-intrinsic SMN deficiency drives metabolic dysfunction and liver steatosis in spinal muscular atrophyDamien Meng-Kiat Leow, Yang Kai Ng, Loo Chien Wang, et al.
Muscle & Nerve|January 22, 2026
Liver Steatosis in Induced Hepatocytes From Carriers of Spinal Muscular AtrophyLingyu Sun, Damien Meng Kiat Leow, Loo Chien Wang, et al.
The New England Journal of Medicine|November 2, 2017
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular AtrophyRichard S Finkel, Eugenio Mercuri, Basil T Darras, et al.
Neurogenetics|February 29, 2012
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicoresSteven E Boyden, Lane J Mahoney, Genri Kawahara, et al.
Neurology|March 24, 2019
X-linked myotubular myopathy: A prospective international natural history studyMélanie Annoussamy, Charlotte Lilien, Teresa Gidaro, et al.
Neuromuscular Disorders : NMD|February 4, 2026
Refining functional phenotypes in an international cohort of untreated paediatric type 2 and 3 SMA patients using the Revised Hammersmith ScaleE Milev, G Stimpson, D Ramsey, et al.
The New England Journal of Medicine|February 15, 2018
Nusinersen versus Sham Control in Later-Onset Spinal Muscular AtrophyEugenio Mercuri, Basil T Darras, Claudia A Chiriboga, et al.
Plos One|February 22, 2017
Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment toolDanielle Ramsey, Mariacristina Scoto, Anna Mayhew, et al.
Nature Communications|March 5, 2025
Analysis of human urinary extracellular vesicles reveals disordered renal metabolism in myotonic dystrophy type 1Preeti Kumari, Lauren M Sullivan, Zhaozhi Li, et al.
Pageof 31