S. Roy

264th ENMC International Workshop: Multi-system involvement in spinal muscular atrophy Hoofddorp, the Netherlands, November 19th – 21st 2021

Ewout J. N. Groen, S. Corti, M. Bowerman, 2022, Neuromuscular Disorders.

Lupus anticoagulant acquired hypoprothrombinemia syndrome in childhood: two distinct patterns and review of the literature

M. Rajpurkar, W. Hollon, T. Sarker, 2015, Haemophilia : the official journal of the World Federation of Hemophilia.

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome

F. Muntoni, N. Petit, C. Jaillard, 2001, Nature Genetics.

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.

SMA - TREATMENT EP.290 Newborn screening (NBS) for spinal muscular atrophy (SMA) in the United States (US): Early findings from the RESTORE registry

R. Finkel, E. Mercuri, O. Dabbous, 2021, Neuromuscular Disorders.