Title	Publication Date	Language	Citations
119th ENMC international workshop: Trial design in adult idiopathic inflammatory myopathies, with the exception of inclusion body myositis, 10–12 October 2003, Naarden, The Netherlands	2004/05/01	English	628
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care	2018/02/01	English	518
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study	2019/11/01	English	360
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics	2018/03/01	English	352
Histological parameters for the quantitative assessment of muscular dystrophy in the mdx-mouse	2004/10/01	English	302
A motor function measure scale for neuromuscular diseases. Construction and validation study	2005/07/01	English	302
A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy	2014/06/01	English	298
224th ENMC International Workshop:	2018/01/01	English	283
Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases	2018/03/01	English	256
Long-term benefits of deflazacort treatment for boys with Duchenne muscular dystrophy in their second decade	2006/04/01	English	252
188th ENMC International Workshop: Inclusion Body Myositis, 2–4 December 2011, Naarden, The Netherlands	2013/12/01	English	246
The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein	2007/08/01	English	237
Rhabdomyolysis: Review of the literature	2014/08/01	English	229
MELAS: An original case and clinical criteria for diagnosis	1992/01/01	English	222
229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017	2018/08/01	English	221
The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test development and reliability	2010/03/01	English	221
An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients	2007/10/01	English	220
Managing Duchenne muscular dystrophy – The additive effect of spinal surgery and home nocturnal ventilation in improving survival	2007/06/01	English	212
Evolution of the mdx mouse cardiomyopathy: physiological and morphological findings	2004/09/01	English	211
Diagnostic approach to the congenital muscular dystrophies	2014/04/01	English	202
Duchenne muscular dystrophy: Survival by cardio-respiratory interventions	2011/01/01	English	185
Approach to the diagnosis of congenital myopathies	2014/02/01	English	181
Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients	2007/10/01	English	172
A systematic review of diagnostic studies in myasthenia gravis	2006/07/01	English	172
Centronuclear myopathies: A widening concept	2010/04/01	English	170
Reduced necrosis of dystrophic muscle by depletion of host neutrophils, or blocking TNFα function with Etanercept in mdx mice	2006/10/01	English	169
Progressive myopathy with up-regulation of MHC-I associated with statin therapy	2007/02/01	English	167
Valosin-containing protein disease: Inclusion body myopathy with Paget’s disease of the bone and fronto-temporal dementia	2009/05/01	English	160
The congenital muscular dystrophies in 2004: a century of exciting progress	2004/10/01	English	155
209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7–9 November 2014, Heemskerk, The Netherlands	2015/07/01	English	154