Edmar Zanoteli

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

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene et al. · Human Mutation · 2012 · 135 citations · Full text

Peripheral Neuropathy, Mendelian Disorder, Autoimmune Disease +15

A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy

Valérie Tosch, Holger M. Rohde, Hélène Tronchère et al. · Human Molecular Genetics · 2006 · 131 citations · Full text

Myasthenia Gravis and COVID-19: Clinical Characteristics and Outcomes

Antônio Edvan Camelo-Filho, André Macedo Serafim da Silva, Eduardo de Paula Estephan et al. · Frontiers in Neurology · 2020 · 105 citations · Full text

Autoimmune Disease, Intensive Care Unit, Immunodeficiencies +13

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