Titel	Veröffentlichungsdatum	Sprache	Zitate
Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy	2009/05/01	English	109
Longitudinal measurements of MRI-T2 in boys with Duchenne muscular dystrophy: Effects of age and disease progression	2014/05/01	English	107
Quantitative muscle ultrasound is a promising longitudinal follow-up tool in Duchenne muscular dystrophy	2012/04/01	English	107
Report on the 124th ENMC International Workshop. Treatment of Duchenne muscular dystrophy; defining the gold standards of management in the use of corticosteroids 2–4 April 2004, Naarden, The Netherlands	2004/09/01	English	106
Dystrophin-deficient cardiomyopathy in mouse: Expression of Nox4 and Lox are associated with fibrosis and altered functional parameters in the heart	2008/05/01	English	106
The PedsQL™ in pediatric patients with Spinal Muscular Atrophy: Feasibility, reliability, and validity of the Pediatric Quality of Life Inventory™ Generic Core Scales and Neuromuscular Module	2009/12/01	English	106
Deficiency of a skeletal muscle isoform of α-actinin (α-actinin-3) in merosin-positive congenital muscular dystrophy	1996/08/01	English	103
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures	2005/02/01	English	103
Prevention of muscle fibrosis and improvement in muscle performance in the mdx mouse by halofuginone	2008/11/01	English	102
Cardiac and respiratory involvement in advanced stage Duchenne muscular dystrophy	1996/10/01	English	101
Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD)	2004/01/01	English	100
30th and 31st ENMC international workshops, Naarden, The Netherlands, Held 6–8 January 1995	1995/07/01	English	99
Calpain 3, the “gatekeeper” of proper sarcomere assembly, turnover and maintenance	2008/12/01	English	98
P525L FUS mutation is consistently associated with a severe form of juvenile Amyotrophic Lateral Sclerosis	2012/01/01	English	97
Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders	2005/10/01	English	96
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency	2009/03/01	English	96
Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go	2021/06/01	English	94
205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies Part II 28–30 March 2014, Naarden, The Netherlands	2015/03/01	English	94
A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology	2012/03/01	English	93
Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations	2004/12/01	English	92
Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom	2013/03/01	English	91
The function of Myostatin and strategies of Myostatin blockade—new hope for therapies aimed at promoting growth of skeletal muscle	2005/02/01	English	90
Whole body muscle MRI protocol: Pattern recognition in early onset NM disorders	2012/10/01	English	89
Hereditary myosin myopathies	2007/05/01	English	89
Mitochondrial encephalomyopathies: an update	2005/04/01	English	88
Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy	2006/12/01	English	88
Developmental milestones in type I spinal muscular atrophy	2016/11/01	English	86
Pilot trial of phenylbutyrate in spinal muscular atrophy	2004/02/01	English	86
A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy	2018/01/01	English	84
Low bone mineral density and decreased bone turnover in Duchenne muscular dystrophy	2007/12/01	English	83