E. Deladrière

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.

Development and co-construction of a therapeutic patient education program for albinism.

C. Bodemer, S. Hadj-Rabia, S. Compain, 2021, Annales de dermatologie et de venereologie.

A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapy

Y. Péréon, P. Cintas, C. Barnérias, 2023, Neuromuscular Disorders.

Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports

F. Rivier, P. Sabouraud, C. Barnérias, 2020, Frontiers in Pediatrics.

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.

Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings.

C. Barnérias, I. Desguerre, M. Hully, 2023, Molecular genetics and metabolism.