Neuromuscular Disorders

Titel Veröffentlichungsdatum Sprache Zitate
ACTIVLIM: A Rasch-built measure of activity limitations in children and adults with neuromuscular disorders2007/06/01English82
Statin myotoxicity: A review of genetic susceptibility factors2014/01/01English82
Paranodal lesions in chronic inflammatory demyelinating polyneuropathy associated with anti-Neurofascin 155 antibodies2017/03/01English82
Streptomycin reduces stretch-induced membrane permeability in muscles from mdx mice2006/12/01English81
Current status of the congenital myasthenic syndromes2012/02/01English81
Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies2011/06/01English81
Quantitative muscle MRI: A powerful surrogate outcome measure in Duchenne muscular dystrophy2015/09/01English81
Dysregulation and cellular mislocalization of specific miRNAs in myotonic dystrophy type 12011/02/01English81
Passive avoidance behaviour deficit in the mdx mouse1991/01/01English81
Towards harmonization of protocols for MRI outcome measures in skeletal muscle studies: Consensus recommendations from two TREAT-NMD NMR workshops, 2 May 2010, Stockholm, Sweden, 1–2 October 2009, Paris, France2012/10/01English81
Inclusion body myositis2010/02/01English80
Spinal muscular atrophy: A changing phenotype beyond the clinical trials2017/10/01English79
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene2007/04/01English79
Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease2009/02/01English78
196th ENMC international workshop: Outcome measures in inflammatory peripheral neuropathies 8–10 February 2013, Naarden, The Netherlands2013/11/01English78
Myasthenia triggered by immune checkpoint inhibitors: New case and literature review2017/03/01English78
Epidemiology of myasthenia gravis in Ontario, Canada2016/01/01English77
Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease2008/06/01English77
Marked efficacy of a therapeutic strategy associating prednisone and plasma exchange followed by rituximab in two patients with refractory myopathy associated with antibodies to the signal recognition particle (SRP)2006/05/01English77
Predictors of severe chest infections in pediatric neuromuscular disorders2006/05/01English77
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation2010/07/01English77
Distal myopathies – New genetic entities expand diagnostic challenge2012/01/01English77
TREAT-NMD workshop: Pattern recognition in genetic muscle diseases using muscle MRI2012/10/01English76
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy2010/04/01English76
Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; Report of three expert workshops: TREAT-NMD/ENMC Workshop on outcome measures, 12th–13th May 2007, Naarden, The Netherlands; TREAT-NMD Workshop on outcome measures in experimental trials for DMD, 30th June–1st July 2007, Naarden, The Netherlands; Conjoint Institute of Myology TREAT-NMD Meeting on physical activity monitoring in neuromuscular disorders, 11th July 2007, Paris, France2008/11/01English76
Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy2014/03/01English76
Idebenone as a novel, therapeutic approach for Duchenne muscular dystrophy: Results from a 12 month, double-blind, randomized placebo-controlled trial2011/06/01English75
Targeted next-generation sequencing assay for detection of mutations in primary myopathies2016/01/01English75
Longitudinal pulmonary function testing outcome measures in Duchenne muscular dystrophy: Long-term natural history with and without glucocorticoids2018/11/01English75
Relationships of thigh muscle contractile and non-contractile tissue with function, strength, and age in boys with Duchenne muscular dystrophy2012/01/01English75