| Randomized trial of thymectomy in myasthenia gravis GI Wolfe, HJ Kaminski, IB Aban, G Minisman, HC Kuo, A Marx, P Ströbel, ... New England Journal of Medicine 375 (6), 511-522, 2016 | 997 | 2016 |
| The TREAT‐NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations CL Bladen, D Salgado, S Monges, ME Foncuberta, K Kekou, K Kosma, ... Human mutation 36 (4), 395-402, 2015 | 806 | 2015 |
| Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind … JF Howard, K Utsugisawa, M Benatar, H Murai, RJ Barohn, I Illa, S Jacob, ... The Lancet Neurology 16 (12), 976-986, 2017 | 700 | 2017 |
| Safety, efficacy, and tolerability of efgartigimod in patients with generalised myasthenia gravis (ADAPT): a multicentre, randomised, placebo-controlled, phase 3 trial JF Howard, V Bril, T Vu, C Karam, S Peric, T Margania, H Murai, ... The Lancet Neurology 20 (7), 526-536, 2021 | 446 | 2021 |
| A comprehensive analysis of the epidemiology and clinical characteristics of anti-LRP4 in myasthenia gravis P Zisimopoulou, P Evangelakou, J Tzartos, K Lazaridis, V Zouvelou, ... Journal of autoimmunity 52, 139-145, 2014 | 335 | 2014 |
| Long-term effect of thymectomy plus prednisone versus prednisone alone in patients with non-thymomatous myasthenia gravis: 2-year extension of the MGTX randomised trial GI Wolfe, HJ Kaminski, IB Aban, G Minisman, HC Kuo, A Marx, P Ströbel, ... The Lancet Neurology 18 (3), 259-268, 2019 | 208 | 2019 |
| Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled … E Mercuri, N Deconinck, ES Mazzone, A Nascimento, M Oskoui, K Saito, ... The Lancet Neurology 21 (1), 42-52, 2022 | 186 | 2022 |
| Clinical outcomes in Duchenne muscular dystrophy: a study of 5345 patients from the TREAT-NMD DMD global database Z Koeks, CL Bladen, D Salgado, E Van Zwet, O Pogoryelova, ... Journal of neuromuscular diseases 4 (4), 293-306, 2017 | 178 | 2017 |
| Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial J Diaz-Manera, PS Kishnani, H Kushlaf, S Ladha, T Mozaffar, V Straub, ... The Lancet Neurology 20 (12), 1012-1026, 2021 | 138 | 2021 |
| A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy N Goemans, E Mercuri, E Belousova, H Komaki, A Dubrovsky, ... Neuromuscular Disorders 28 (1), 4-15, 2018 | 137 | 2018 |
| Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe CL Bladen, R Thompson, JM Jackson, C Garland, C Wegel, A Ambrosini, ... Journal of neurology 261, 152-163, 2014 | 120 | 2014 |
| European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy J Kirschner, N Butoianu, N Goemans, J Haberlova, A Kostera-Pruszczyk, ... European Journal of Paediatric Neurology 28, 38-43, 2020 | 117 | 2020 |
| Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness A Töpf, K Johnson, A Bates, L Phillips, KR Chao, EM England, ... Genetics in medicine 22 (9), 1478-1488, 2020 | 93 | 2020 |
| Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease. M Jedrzejowska, M Milewski, J Zimowski, J Borkowska, ... Acta Biochimica Polonica 56 (1), 2009 | 91 | 2009 |
| MuSK autoantibodies in myasthenia gravis detected by cell based assay—a multinational study AI Tsonis, P Zisimopoulou, K Lazaridis, J Tzartos, E Matsigkou, ... Journal of neuroimmunology 284, 10-17, 2015 | 88 | 2015 |
| Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation P Pruszczyk, A Kostera-Pruszczyk, A Shatunov, B Goudeau, A Dramiñska, ... International journal of cardiology 117 (2), 244-253, 2007 | 85 | 2007 |
| European cross-sectional survey of current care practices for Duchenne muscular dystrophy reveals regional and age-dependent differences J Vry, K Gramsch, S Rodger, R Thompson, BF Steffensen, J Rahbek, ... Journal of neuromuscular diseases 3 (4), 517-527, 2016 | 82 | 2016 |
| Antititin antibody in early‐and late‐onset myasthenia gravis P Szczudlik, B Szyluk, M Lipowska, B Ryniewicz, J Kubiszewska, ... Acta Neurologica Scandinavica 130 (4), 229-233, 2014 | 82 | 2014 |
| Unaffected patients with a homozygous absence of the SMN1 gene M Jędrzejowska, J Borkowska, J Zimowski, A Kostera-Pruszczyk, ... European journal of human genetics 16 (8), 930-934, 2008 | 81 | 2008 |
| Titin antibodies in “seronegative” myasthenia gravis—a new role for an old antigen C Stergiou, K Lazaridis, V Zouvelou, J Tzartos, R Mantegazza, C Antozzi, ... Journal of neuroimmunology 292, 108-115, 2016 | 78 | 2016 |
Prof. Dr. med. Janbernd KirschnerDept. for Neuropediatrics and Muscle Disorders, Faculty of Medicine, University of FreiburgEmail được xác minh tại uniklinik-freiburg.de