Title	Publication Date	Language	Citations
Quantitative skeletal muscle ultrasound: Diagnostic value in childhood neuromuscular disease	2007/07/01	English	152
Diagnostic criteria for facioscapulohumeral muscular dystrophy	1991/01/01	English	152
Reliability of the North Star Ambulatory Assessment in a multicentric setting	2009/07/01	English	149
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis	2013/07/01	English	147
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy	2010/11/01	English	147
Myofibrillar myopathies	2011/03/01	English	140
239th ENMC International Workshop: Classification of dermatomyositis, Amsterdam, the Netherlands, 14–16 December 2018	2020/01/01	English	139
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials	2016/02/01	English	136
First test of a “high-density injection” protocol for myogenic cell transplantation throughout large volumes of muscles in a Duchenne muscular dystrophy patient: eighteen months follow-up	2007/01/01	English	136
Mitochondrial DNA depletion syndromes – Many genes, common mechanisms	2010/07/01	English	134
Mammalian animal models for Duchenne muscular dystrophy	2009/04/01	English	133
Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations	2010/04/01	English	127
The diagnosis of mitochondrial muscle disease	2004/04/01	English	127
Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial	2005/01/01	English	126
Cognitive impairment in Duchenne muscular dystrophy	1994/07/01	English	122
Quantitative MRI and strength measurements in the assessment of muscle quality in Duchenne muscular dystrophy	2014/05/01	English	119
Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns	2011/11/01	English	118
Histological effects of givinostat in boys with Duchenne muscular dystrophy	2016/10/01	English	118
Hereditary muscular dystrophies and the heart	2010/08/01	English	117
Corticosteroid treatment retards development of ventricular dysfunction in Duchenne muscular dystrophy	2008/05/01	English	117
RNA pathogenesis of the myotonic dystrophies	2005/01/01	English	115
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker–Warburg syndrome (WWS) caused by a mutation in the POMT1 gene	2005/04/01	English	114
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human	2007/12/01	English	114
Lysosomal myopathies: An excessive build-up in autophagosomes is too much to handle	2008/07/01	English	113
Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD)	2011/08/01	English	113
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy	2005/04/01	English	113
Clinical and genetic characterization of manifesting carriers of DMD mutations	2010/08/01	English	112
European Medicines Agency review of ataluren for the treatment of ambulant patients aged 5 years and older with Duchenne muscular dystrophy resulting from a nonsense mutation in the dystrophin gene	2015/01/01	English	111
Up-regulation of leukaemia inhibitory factor and interleukin-6 in transected sciatic nerve and muscle following denervation	1996/03/01	English	109
Age-related changes in collagen gene expression in the muscles of mdx dystrophic and normal mice	1994/05/01	English	109