D. Vlodavets

Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls

Basil T. Darras, Riccardo Masson, Maria Mazurkiewicz-Bełdzińska et al. · New England Journal of Medicine · 2021 · 262 citations · Full text

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

Tamara Dangouloff, Eva Vrščaj, Laurent Servais et al. · Neuromuscular Disorders · 2021 · 164 citations

Early Diagnosis, Rare Diseases, Newborn Screening +7

Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial

Riccardo Masson, Maria Mazurkiewicz-Bełdzińska, Kristy Rose et al. · The Lancet Neurology · 2022 · 96 citations · Full text

Type 1, Firefish Part 2, Rehabilitation +6

MRI in sarcoglycanopathies: a large international cohort study

Giorgio Tasca, Mauro Monforte, Jordi Díaz‐Manera et al. · Journal of Neurology Neurosurgery & Psychiatry · 2017 · 69 citations

CRISPR/Cas9-generated mouse model of Duchenne muscular dystrophy recapitulating a newly identified large 430 kb deletion in the human <i>DMD</i> gene

Tatiana V. Egorova, Evgenia Zotova, Denis A. Reshetov et al. · Disease Models & Mechanisms · 2019 · 36 citations · Full text