Facing facial weakness: psychosocial outcomes of facial weakness and reduced facial function in facioscapulohumeral muscular dystrophy

Authors: van de Geest-Buit, W. A., Rasing, N. B., Mul, K., Deenen, J. C. W., Vincenten, S. C. C., Siemann, I., Lanser, A., Groothuis, J. T., van Engelen, B. G., Custers, J. A. E., Voermans, N. C.

Source: Disability and rehabilitation. 45(15):2507-2516

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100186151295.0x000001&indx=1&recIds=ETOCvdc_100186151295.0x000001

Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations

Authors: Voermans, N. C., van der Bilt, R. C., IJspeert, J., Hogrel, J. Y., Jeanpierre, M., Behin, A., Laforet, P., Stojkovic, T., van Engelen, B. G., Padberg, G. W., Sacconi, S., Lemmers, R. J. L. F., van der Maarel, S. M., Eymard, B., Bassez, G.

Source: Journal of neurology. 266(12):2987-2996

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100141522838.0x000001&indx=1&recIds=ETOCvdc_100141522838.0x000001

Fatigue, not self-rated motor symptom severity, affects quality of life in functional motor disorders

Authors: Gelauff, J. M., Kingma, E. M., Kalkman, J. S., Bezemer, R., van Engelen, B. G. M., Stone, J., Tijssen, M. A. J., Rosmalen, J. G. M.

Source: Journal of neurology. 265(8):1803-1809

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100141523276.0x000001&indx=1&recIds=ETOCvdc_100141523276.0x000001

Repeatability and reliability of muscle relaxation properties induced by motor cortical stimulation

Authors: Molenaar, J. P., Voermans, N. C., de Jong, L. A., Stegeman, D. F., Doorduin, J., van Engelen, B. G.

Source: Journal of applied physiology. 124(6):1597-1604

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN616592062&indx=1&recIds=ETOCRN616592062

Adding quantitative muscle MRI to the FSHD clinical trial toolbox

Authors: Mul, K., Vincenten, S. C. C., Voermans, N. C., Lemmers, R. J. L. F., van der Vliet, P. J., van der Maarel, S. M., Padberg, G. W., Horlings, C. G. C., van Engelen, B. G. M.

Source: Neurology. 89(20):2057-2065

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN613732729&indx=1&recIds=ETOCRN613732729

Brain imaging in myotonic dystrophy type 1: A systematic review

Authors: Okkersen, K., Monckton, D. G., Le, N., Tuladhar, A. M., Raaphorst, J., van Engelen, B. G. M.

Source: Neurology. 89(9):960-969

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN612671710&indx=1&recIds=ETOCRN612671710

Lower extremity muscle pathology in myotonic dystrophy type 1 assessed by quantitative MRI

Authors: Heskamp, L., van Nimwegen, M., Ploegmakers, M. J., Bassez, G., Deux, J.-F., Cumming, S. A., Monckton, D. G., van Engelen, B. G. M., Heerschap, A.

Source: Neurology. 92(24):1140-1142

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN620461520&indx=1&recIds=ETOCRN620461520

Patients with SSc/polymyositis Overlap Have a Worse Survival Rate Than Patients Without It

Authors: Bhansing, K. J., van Riel, P. L., van Engelen, B. G., Fransen, J., Vonk, M. C.

Source: Journal of rheumatology. 43(10):1838-1843

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN608268453&indx=1&recIds=ETOCRN608268453

Genetic defects in the hexosamine and sialic acid biosynthesis pathway

Authors: Willems, A. P., van Engelen, B. G., Lefeber, D. J.

Source: BIOCHIMICA ET BIOPHYSICA ACTA. 1860(8):1640-1654

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN378837170&indx=1&recIds=ETOCRN378837170

No relevant excess prevalence of myotonic dystrophy type 2 in patients with suspected fibromyalgia syndrome

Authors: van Vliet, J., Verrips, A., Tieleman, A. A., Scheffer, H., Cats, H. A., den Broeder, A. A., van Engelen, B. G.

Source: NEUROMUSCULAR DISORDERS. 26(6):370-373

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN377912640&indx=1&recIds=ETOCRN377912640

Characterization of sarcoplasmic reticulum Ca2+ ATPase pumps in muscle of patients with myotonic dystrophy and with hypothyroid myopathy

Authors: Guglielmi, V., Oosterhof, A., Voermans, N. C., Cardani, R., Molenaar, J. P., van Kuppevelt, T. H., Meola, G., van Engelen, B. G., Tomelleri, G., Vattemi, G.

Source: NEUROMUSCULAR DISORDERS. 26(6):378-385

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN377912663&indx=1&recIds=ETOCRN377912663

The Dutch patients' perspective on oculopharyngeal muscular dystrophy: A questionnaire study on fatigue, pain and impairments

Authors: van der Sluijs, B. M., Knoop, H., Bleijenberg, G., van Engelen, B. G., Voermans, N. C.

Source: NEUROMUSCULAR DISORDERS. 26(3):221-226

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN376268042&indx=1&recIds=ETOCRN376268042

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2

Authors: van den Boogaard, M. L., JFL Lemmers, R., Camano, P., van der Vliet, P. J., Voermans, N., van Engelen, B. G., Lopez de Munain, A., Tapscott, S. J., van der Stoep, N., Tawil, R.

Source: EUROPEAN JOURNAL OF HUMAN GENETICS. 24(1):78-85

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN373402847&indx=1&recIds=ETOCRN373402847

NIR spectroscopic measurement of local muscle metabolism during rhythmic, sustained, and intermittent handgrip exercise [5138-09]
Photon migration and diffuse-light imaging

Authors: van Beekvelt, M. C. P., Orbon, K., van Engelen, B. G. M., Wevers, R. A., Colier, W. N. J. M.

Source: PROCEEDINGS- SPIE THE INTERNATIONAL SOCIETY FOR OPTICAL ENGINEERING. 5138:35-45

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCCN050565154&indx=1&recIds=ETOCCN050565154

Evaluation of blood gene expression levels in facioscapulohumeral muscular dystrophy patients

Authors: Signorelli, M., Mason, A. G., Mul, K., Evangelista, T., Mei, H., Voermans, N., Tapscott, S. J., Tsonaka, R., van Engelen, B. G. M., van der Maarel, S. M., Spitali, P.

Source: Scientific reports. 10(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100175962742.0x000001&indx=1&recIds=ETOCvdc_100175962742.0x000001

Quantitative Measurement of Oxygen Consumption and Forearm Blood Flow in Patients with Mitochondrial Myopathies
International Society on Oxygen Transport to Tissue; Oxygen transport to tissue XXI

Authors: Van Beekvelt, M. C. P., Colier, W. N. J. M., Wevers, R. A., Van Engelen, B. G. M.

Source: ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY. 471:313-320

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCCN036628900&indx=1&recIds=ETOCCN036628900

Increased fascial thickness of the deltoid muscle in dermatomyositis and polymyositis: An ultrasound study

Authors: Bhansing, K. J., Van Rosmalen, M. H., Van Engelen, B. G., Vonk, M. C., Van Riel, P. L., Pillen, S.

Source: MUSCLE AND NERVE. 52(4):534-539

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN381769110&indx=1&recIds=ETOCRN381769110

Cost-effectiveness of shared medical appointments for neuromuscular patients

Authors: Seesing, F. M., Groenewoud, H. J., Drost, G., van Engelen, B. G. M., van der Wilt, G. J.

Source: Neurology. 85(7):619-625

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN602593792&indx=1&recIds=ETOCRN602593792

Clinical Functional Capacity Testing in Patients With Facioscapulohumeral Muscular Dystrophy: Construct Validity and Interrater Reliability of Antigravity Tests

Authors: Rijken, N. H., van Engelen, B. G., Weerdesteyn, V., Geurts, A. C.

Source: ARCHIVES OF PHYSICAL MEDICINE AND REHABILITATION. 96(12):2201-2206

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN373231792&indx=1&recIds=ETOCRN373231792

Dynamic stability during level walking and obstacle crossing in persons with facioscapulohumeral muscular dystrophy

Authors: Rijken, N. H., van Engelen, B. G., Geurts, A. C., Weerdesteyn, V.

Source: GAIT AND POSTURE. 42(3):295-300

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN372653527&indx=1&recIds=ETOCRN372653527