Jana Haberlová

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

Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy

Michela Guglieri, Paula R. Clemens, Seth J. Perlman et al. · JAMA Neurology · 2022 · 107 citations · Full text

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Ana Töpf, Katherine Johnson, Adam Bates et al. · Genetics in Medicine · 2020 · 105 citations · Full text

Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Catherine L. Bladen, Rachel Thompson, J. Jackson et al. · Journal of Neurology · 2013 · 102 citations

Spine Care, Primary Care, Health Policy +9

European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy

Janbernd Kirschner, Nina Butoianu, Nathalie Goemans et al. · European Journal of Paediatric Neurology · 2020 · 93 citations · Full text

Medical Treatment, In Vivo Gene Therapy, Genetics +7