Andres N. Osorio

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 14 publications

Autophagy impairment is associated with enhanced satellite cell activation in muscle biopsies from younger late-onset Pompe disease patients.

Autophagy impairment is associated with enhanced satellite cell activation in muscle biopsies from younger late-onset Pompe disease patients.

Journal: Journal of neuropathology and experimental neurology

Published: July 27, 2025

Congenital myasthenic syndrome: is it time for a name change to genetic myasthenic syndrome?

Congenital myasthenic syndrome: is it time for a name change to genetic myasthenic syndrome?

Journal: Brain : a journal of neurology

Published: April 17, 2025

Safety and efficacy of tamoxifen in non-ambulant patients with Duchenne muscular dystrophy: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial (TAMDMD Group B).

Safety and efficacy of tamoxifen in non-ambulant patients with Duchenne muscular dystrophy: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial (TAMDMD Group B).

Journal: Neuromuscular disorders : NMD

Published: September 16, 2024

Correction to: Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis.

Correction to: Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis.

Journal: Journal of neurology

Published: July 17, 2023

Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis.

Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis.

Journal: Journal of neurology

Published: November 15, 2022

Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.

Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.

Journal: Journal of neuromuscular diseases

Published: November 14, 2022

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

Journal: Nature communications

Published: October 15, 2020

Age and baseline values predict 12 and 24-month functional changes in type 2 SMA.

Age and baseline values predict 12 and 24-month functional changes in type 2 SMA.

Journal: Neuromuscular disorders : NMD

Published: February 01, 2020

Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study.

Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study.

Journal: Journal of comparative effectiveness research

Published: January 31, 2020

Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry.

Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry.

Journal: Journal of comparative effectiveness research

Published: August 16, 2019

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

Journal: American journal of human genetics

Published: May 04, 2019

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

Journal: American journal of human genetics

Published: November 02, 2018

Showing 1-12 of 14

Last Updated: 09/26/2026