Prognostic relevance of MOG antibodies in children with an acquired demyelinating syndrome EM Hennes, M Baumann, K Schanda, B Anlar, B Bajer-Kornek, ... Neurology 89 (9), 900-908, 2017 | 329 | 2017 |
Risdiplam in type 1 spinal muscular atrophy G Baranello, BT Darras, JW Day, N Deconinck, A Klein, R Masson, ... New England Journal of Medicine 384 (10), 915-923, 2021 | 305 | 2021 |
Negative pressure wound therapy to prevent seromas and treat surgical incisions after total hip arthroplasty M Pachowsky, J Gusinde, A Klein, S Lehrl, S Schulz-Drost, P Schlechtweg, ... International orthopaedics 36, 719-722, 2012 | 242 | 2012 |
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation E Clement, E Mercuri, C Godfrey, J Smith, S Robb, M Kinali, V Straub, ... Annals of Neurology: Official Journal of the American Neurological …, 2008 | 176 | 2008 |
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene‐associated myopathies A Klein, S Lillis, I Munteanu, M Scoto, H Zhou, R Quinlivan, V Straub, ... Human mutation 33 (6), 981-988, 2012 | 172 | 2012 |
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 | 163 | 2017 |
Congenital myopathies–clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom L Maggi, M Scoto, S Cirak, SA Robb, A Klein, S Lillis, T Cullup, L Feng, ... Neuromuscular Disorders 23 (3), 195-205, 2013 | 153 | 2013 |
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy M Scoto, AM Rossor, MB Harms, S Cirak, M Calissano, S Robb, ... Neurology 84 (7), 668-679, 2015 | 135 | 2015 |
Quantitative MRI and loss of free ambulation in Duchenne muscular dystrophy A Fischmann, P Hafner, M Gloor, M Schmid, A Klein, U Pohlman, T Waltz, ... Journal of neurology 260, 969-974, 2013 | 129 | 2013 |
Quantitative muscle MRI: a powerful surrogate outcome measure in Duchenne muscular dystrophy U Bonati, P Hafner, S Schädelin, M Schmid, AN Devasia, J Schroeder, ... Neuromuscular Disorders 25 (9), 679-685, 2015 | 127 | 2015 |
Antibodies to MOG and AQP4 in children with neuromyelitis optica and limited forms of the disease C Lechner, M Baumann, EM Hennes, K Schanda, K Marquard, ... Journal of Neurology, Neurosurgery & Psychiatry 87 (8), 897-905, 2016 | 121 | 2016 |
Spontaneous pregnancy outcome after prenatal diagnosis of anencephaly M Jaquier, A Klein, E Boltshauser BJOG: An International Journal of Obstetrics & Gynaecology 113 (8), 951-953, 2006 | 121 | 2006 |
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 | 109 | 2014 |
CRIM-negative infantile Pompe disease: 42-month treatment outcome M Rohrbach, A Klein, A Köhli-Wiesner, D Veraguth, I Scheer, C Balmer, ... Journal of inherited metabolic disease 33, 751-757, 2010 | 98 | 2010 |
Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations A Klein, H Jungbluth, E Clement, S Lillis, S Abbs, P Munot, M Pane, ... Archives of neurology 68 (9), 1171-1179, 2011 | 96 | 2011 |
Long-term outcome of ten children with opsoclonus-myoclonus syndrome A Klein, B Schmitt, E Boltshauser European journal of pediatrics 166, 359-363, 2007 | 75 | 2007 |
Episodic ataxia type 1 with distal weakness: a novel manifestation of a potassium channelopathy A Klein, E Boltshauser, J Jen, RW Baloh Neuropediatrics 35 (02), 147-149, 2004 | 75 | 2004 |
Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations G Burke, A Hiscock, A Klein, EH Niks, M Main, AY Manzur, J Ng, C de Vile, ... Neuromuscular disorders 23 (2), 170-175, 2013 | 70 | 2013 |
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study SM Papuc, L Abela, K Steindl, A Begemann, TL Simmons, B Schmitt, ... European journal of human genetics 27 (3), 408-421, 2019 | 66 | 2019 |
Prolonged hemiplegic episodes in children due to mutations in ATP1A2 JC Jen, A Klein, E Boltshauser, MS Cartwright, ES Roach, H Mamsa, ... Journal of Neurology, Neurosurgery & Psychiatry 78 (5), 523-526, 2007 | 60 | 2007 |