Search Results - "PADBERG, G"

Characterizing the face in facioscapulohumeral muscular dystrophy by Loonen, T. G. J., Horlings, C. G. C., Vincenten, S. C. C., Beurskens, C. H. G., Knuijt, S., Padberg, G. W. A. M., Statland, J. M., Voermans, N. C., Maal, T. J. J., van Engelen, B. G. M., Mul, K.

“…Objective To evaluate facial weakness in patients with FSHD to better define clinical signs, and pilot a facial weakness severity score. Methods 87 FSHD…”
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Experienced fatigue in facioscapulohumeral dystrophy, myotonic dystrophy, and HMSN-I by Kalkman, J S, Schillings, M L, van der Werf, S P, Padberg, G W, Zwarts, M J, van Engelen, B G M, Bleijenberg, G

“…Objective: To assess the prevalence of severe fatigue and its relation to functional impairment in daily life in patients with relatively common types of…”
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Clinical features of facioscapulohumeral muscular dystrophy 2 by DE GREEF, J. C, LEMMERS, R. J. L. F, DESNUELLE, C, SPULER, S, TARNOPOLSKY, M, VENANCE, S. L, FRANTS, R. R, VAN DER MAAREL, S. M, TAWIL, R, CAMANO, P, DAY, J. W, SACCONI, S, DUNAND, M, VAN ENGELEN, B. G. M, KIURU-ENARI, S, PADBERG, G. W, ROSA, A. L

“…In some 5% of patients with facioscapulohumeral muscular dystrophy (FSHD), no D4Z4 repeat contraction on chromosome 4q35 is observed. Such patients, termed…”
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Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations by 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.

“…Objective To study scapular winging or other forms of scapular dyskinesis (condition of alteration of the normal position and motion of the scapula) in…”
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1st FSHD European Trial Network workshop:Working towards trial readiness across Europe by Voermans, N.C., Vriens-Munoz Bravo, M., Padberg, G.W., Laforêt, P., van Alfen, N., Attarian, S., Badrising, U.A., Bugiardini, E., González, P. Camano, Carlier, R.Y., Desguerre, I., Diaz-Manera, J., Dumonceaux, J., van Engelen, B.G., Evangelista, T., Khosla, S., de Munain, A. López, van der Maarel, S.M., Mejat, A., Monforte, M., Montagnese, F., Mul, K., Oflazer, P., Porter, B., Quijano-Roy, S., Ricci, E., Sacconi, S., Sansone, V.A., Schoser, B., Statland, J., Stumpe, E., Tasca, G., Tawil, R., Turner, C., Vissing, J.

“…•The FSHD European Trial Network (FSHD ETN) will have an open membership.•There will be four working groups (WG) on clinical and genetic diagnosis (WG 1),…”
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Ventilatory support in facioscapulohumeral muscular dystrophy by WOHLGEMUTH, M, VAN DER KOOI, E. L, VAN KESTEREN, R. G, VAN DER MAAREL, S. M, PADBERG, G. W

“…Respiratory insufficiency due to respiratory muscle weakness is a common complication of many neuromuscular diseases. The prevalence of respiratory failure in…”
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Strength training and albuterol in facioscapulohumeral muscular dystrophy by VAN DER KOOI, E. L, VOGELS, O. J. M, VAN ASSELDONK, R. J. G. P, LINDEMAN, E, HENDRIKS, J. C. M, WOHLGEMUTH, M, VAN DER MAAREL, S. M, PADBERG, G. W

“…In animals and healthy volunteers beta2-adrenergic agonists increase muscle strength and mass, in particular when combined with strength training. In patients…”
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Facioscapulohumeral Disease as a myodevelopmental disease: Applying Ockham's razor to its various features by Padberg, G W, van Engelen, B G M, Voermans, N C

“… Facioscapulohumeral muscular dystrophy (FSHD) is an exclusively human neuromuscular disease. In the last decades the cause of FSHD was identified: the loss of…”
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Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD by DE GREEF, J. C, WOHLGEMUTH, M, CHAN, O. A, HANSSON, K. B, SMEETS, D, FRANTS, R. R, WEEMAES, C. M, PADBERG, G. W, VAN DER MAAREL, S. M

“…Patients with facioscapulohumeral muscular dystrophy (FSHD) show a contraction of the D4Z4 repeat array in the subtelomere of chromosome 4q. This D4Z4…”
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Epidemiology and pathophysiology of falls in facioscapulohumeral disease by Horlings, C G C, Munneke, M, Bickerstaffe, A, Laverman, L, Allum, J H J, Padberg, G W A M, Bloem, B R, van Engelen, B G M

“…Background and aim:Muscle weakness is a potentially important, yet poorly studied, risk factor for falls. Detailed studies of patients with specific myopathies…”
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Limb-girdle muscular dystrophy in the Netherlands : Gene defect identified in half the families by VAN DER KOOI, A. J, FRANKHUIZEN, W. S, BAKKER, E, GINJAAR, H. B, BARTH, P. G, HOWELER, C. J, PADBERG, G. W, SPAANS, F, WINTZEN, A. R, WOKKE, J. H. J, VAN OMMEN, G.-J. B, DE VISSER, M

“…Pheno- and genotype correlation is attempted in a Dutch cross-sectional study on limb- girdle muscular dystrophy. Sarcoglycans, caveolin-3, calpain-3, and…”
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FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients by Rijkers, T, Deidda, G, van Koningsbruggen, S, van Geel, M, Lemmers, R J L F, van Deutekom, J C T, Figlewicz, D, Hewitt, J E, Padberg, G W, Frants, R R, van der Maarel, S M

“…Background: Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is associated with partial deletion of the subtelomeric D4Z4 repeat array on…”
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The neuropathology of hereditary congenital facial palsy vs Möbius syndrome by VERZIJL, H. T. F. M, VAN DER ZWAAG, B, LAMMENS, M, TEN DONKELAAR, H. J, PADBERG, G. W

“…To characterize the neuropathology of hereditary congenital facial palsy. The authors compared brainstem pathology of three members of one family with…”
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Genomewide scan identifies susceptibility locus for dyslexia on Xq27 in an extended Dutch family by de Kovel, C G F, Hol, F A, Heister, J G A M, Willemen, J J H T, Sandkuijl, L A, Franke, B, Padberg, G W

“…Context: Dyslexia is a common disorder with a strong genetic component, but despite significant research effort, the aetiology is still largely unknown…”
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Skeletal muscle imaging in facioscapulohumeral muscular dystrophy, pattern and asymmetry of individual muscle involvement by Rijken, N.H.M, van der Kooi, E.L, Hendriks, J.C.M, van Asseldonk, R.J.G.P, Padberg, G.W, Geurts, A.C.H, van Engelen, B.G.M

“…Highlights • We provide insight into specific muscle involvement in patients with FSHD. • Trunk muscles are frequently and severely involved in FSHD. •…”
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213th ENMC International Workshop: Outcome measures and clinical trial readiness in idiopathic inflammatory myopathies, Heemskerk, The Netherlands, 18–20 September 2015 by Benveniste, Olivier, Rider, Lisa G., Aggarwal, R., Allenbach, Y., Benveniste, O., De Bleecker, J.L., de Groot, I., Devilliers, H., Hilton-Jones, D., Hogrel, J.-Y., Lundberg, I.E., Mammen, A.L., Oakley, Oddis, C., Padberg, G., Ponce, D., Rider, L.G., Rose, M.R., Sanner, H., Selva- O'Callaghan, A., de Visser, M., Wells, A., Werth, V.P.

“…•The phenotypes of the idiopathic inflammatory myopathies (IIM) are discussed.•The inclusion criteria for future clinical trials for IIM are discussed.•The…”
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Effects of training and albuterol on pain and fatigue in facioscapulohumeral muscular dystrophy by VAN DER KOOI, E. L, KALKMAN, J. S, LINDEMAN, E, HENDRIKS, J. C. M, VAN ENGELEN, B. G. M, BLEIJENBERG, G, PADBERG, G. W

“…We recently reported a randomised controlled trial on the efficacy of strength training and the beta2-adrenergic agonist albuterol in patients with…”
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Respiratory function in facioscapulohumeral muscular dystrophy 1 by Wohlgemuth, M, Horlings, C.G.C, van der Kooi, E.L, Gilhuis, H.J, Hendriks, J.C.M, van der Maarel, S.M, van Engelen, B.G.M, Heijdra, Y.F, Padberg, G.W

“…Highlights • This is the largest study on pulmonary function in FSHD1 patients. • All ambulatory FSHD1 patients have normal pulmonary function. •…”
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Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element by Gabriëls, J, Beckers, M.-C, Ding, H, De Vriese, A, Plaisance, S, van der Maarel, S.M, Padberg, G.W, Frants, R.R, Hewitt, J.E, Collen, D, Belayew, A

“…Facioscapulohumeral muscular dystrophy (FSHD) is linked to the polymorphic D4Z4 locus on chromosome 4q35. In non-affected individuals, this locus comprises…”
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Only fat infiltrated muscles in resting lower leg of FSHD patients show disturbed energy metabolism by Kan, H. E., Klomp, D. W. J., Wohlgemuth, M., van Loosbroek-Wagemans, I., van Engelen, B. G. M., Padberg, G. W., Heerschap, A.

“…Facioscapulohumeral muscular dystrophy (FSHD) is characterized by asymmetric dysfunctioning of individual muscles. Currently, it is unknown why specific…”
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