N. M. van der Beek

Modifying the Medical Research Council grading system through Rasch analyses

Alan Tennant, Giuseppe Lauria, L. H. van den Berg, 2011, Brain : a journal of neurology.

PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease

W. Hop, A. T. van der Ploeg, A. Beishuizen, 2010, Journal of Inherited Metabolic Disease.

Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.

D. Rizopoulos, T. Mongini, M. Kruijshaar, 2021, The Lancet. Child & adolescent health.

Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.

K. Claeys, D. Pareyson, T. Mongini, 2022, Journal of neuromuscular diseases.

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

S. Marie, W. Robberecht, B. Engelen, 2012, Human mutation.

A new diagnostic assay for glycogen storage disease type II in mixed leukocytes.

A. Reuser, M. Kroos, H. Takeuchi, 2006, Molecular genetics and metabolism.

A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy

Robert W. Taylor, H. Smeets, G. Falkous, 2019, Neuromuscular Disorders.