Sabrina Sacconi

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

Richard J.L.F. Lemmers, Patrick J. van der Vliet, Rinse Klooster et al. · Science · 2010 · 756 citations · Full text

Facioscapulohumeral Muscular Dystrophy, Developmental Biology, Mendelian Disorder +10

Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study

James F. Howard, Kimiaki Utsugisawa, Michael Benatar et al. · The Lancet Neurology · 2017 · 745 citations

Multicentre Study, Pharmacology, Medicine +3

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

Richard J.L.F. Lemmers, Rabi Tawil, Lisa M. Petek et al. · Nature Genetics · 2012 · 641 citations · Full text

Rare Diseases, Developmental Biology, Mendelian Disorder +10

Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study

Vera Bril, Artur Drużdż, Julian Großkreutz et al. · The Lancet Neurology · 2023 · 227 citations

Clinical Trials, Generalised Myasthenia Gravis, Pharmacotherapy +3

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD

Jessica C. de Greef, Richard J.L.F. Lemmers, Baziel G.M. van Engelen et al. · Human Mutation · 2009 · 203 citations

Epigenetic Change, Genetics, Molecular Genetics +18