S. Fontaine

X-linked myotubular myopathy

L. Servais, J. Dowling, A. D’Amico, 2019, Neurology.

Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy

Arturo E. Hernandez, B. Carlin, E. Bertini, 2021, Orphanet Journal of Rare Diseases.

Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial

G. Comi, S. Corti, E. Mazzone, 2022, The Lancet Neurology.

Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients

Arturo E. Hernandez, L. Servais, A. D’Amico, 2020, Molecular therapy. Methods & clinical development.

Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study

R. Finkel, M. Pane, A. Mayhew, 2023, Neurology and Therapy.

Leveraging Natural History Data in One- and Two-Arm Hierarchical Bayesian Studies of Rare Disease Progression

Arturo E. Hernandez, B. Carlin, E. Bertini, 2021, Statistics in Biosciences.

Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients

Arturo E. Hernandez, L. Servais, J. Laporte, 2020, Molecular therapy. Methods & clinical development.