Baziel G.M. van Engelen

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

Richard J.L.F. Lemmers, Rabi Tawil, Lisa M. Petek et al. · Nature Genetics · 2012 · 641 citations · Full text

Rare Diseases, Developmental Biology, Mendelian Disorder +10

The clinical spectrum of neuralgic amyotrophy in 246 cases

Nens van Alfen, Baziel G.M. van Engelen · Brain · 2005 · 630 citations · Full text

Neurological Disorder, Pain Medicine, Clinical Neurology +19

Skeletal Muscle Ultrasound: Correlation Between Fibrous Tissue and Echo Intensity

Sigrid Pillen, Ramon O. Tak, Machiel J. Zwarts et al. · Ultrasound in Medicine & Biology · 2008 · 597 citations · Full text

Medical Ultrasound, Engineering, Medical Imaging +11

Performance of near-infrared spectroscopy in measuring local O₂ consumption and blood flow in skeletal muscle

Mireille C. P. Van Beekvelt, Willy N. J. M. Colier, Ron A. Wevers et al. · Journal of Applied Physiology · 2001 · 512 citations

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Willemijn G. Leen, Jörg Klepper, Marcel M. Verbeek et al. · Brain · 2010 · 406 citations · Full text