Search Results - "Padberg, G. W."

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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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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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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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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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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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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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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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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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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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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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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D4F104S1 deletion in facioscapulohumeral muscular dystrophy: Phenotype, size, and detection by LEMMERS, R. J. L. F, OSBORN, M, HAAF, T, ROGERS, M, FRANTS, R. R, PADBERG, G. W, COOPER, D. N, VAN DER MAAREL, S. M, UPADHYAYA, M

“…The facioscapulohumeral muscular dystrophy (FSHD) locus maps to 4q35 where it is closely linked to D4F104S1 (p13E-11), a probe that recognizes the…”
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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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Germline Mutations in the PTEN/MMAC1 Gene in Patients With Cowden Disease by Nelen, Marcel R., van Staveren, Wilma C. G., Peeters, Els A. J., Ben Hassel, Mohammed, Gorlin, Robert J., Hamm, Henning, Lindboe, Christian F., Fryns, Jean-Pierre, Sijmons, Rolf H., Woods, D. Geoffrey, Mariman, Edwin C. M., Padberg, George W., Kremer, Hannie

“…Cowden disease, also known as multiple hamartoma syndrome, is an autosomal dominant cancer syndrome with a high risk of breast and thyroid cancer. The gene…”
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A Second Gene for Autosomal Dominant Möbius Syndrome Is Localized to Chromosome 10q, in a Dutch Family by Verzijl, H.T.F.M., van den Helm, B., Veldman, B., Hamel, B.C.J., Kuyt, L.P., Padberg, G.W., Kremer, H.

“…Möbius syndrome (MIM 157900) consists of a congenital paresis or paralysis of the VIIth (facial) cranial nerve, frequently accompanied by dysfunction of other…”
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High specificity of myositis specific autoantibodies for myositis compared with other neuromuscular disorders by HENGSTMAN, G. J. D, VAN BRENK, L, VREE EGBERTS, W. T. M, VAN DER KOOI, E. L, BORM, G. F, PADBERG, G. W. A. M, VAN VENROOIJ, W. J, VAN ENGELEN, B. G. M

“…Myositis specific autoantibodies (MSAs) are proven to be specific for myositis compared with other inflammatory connective tissue diseases. Their specificity…”
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Treatment of single brain metastasis: radiotherapy alone or combined with neurosurgery? by Vecht, C J, Haaxma-Reiche, H, Noordijk, E M, Padberg, G W, Voormolen, J H, Hoekstra, F H, Tans, J T, Lambooij, N, Metsaars, J A, Wattendorff, A R

“…Most patients treated for single or multiple brain metastases die from progression of extracranial tumor activity. This makes it uncertain whether the…”
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The choice of treatment of single brain metastasis should be based on extracranial tumor activity and age by Noordijk, E M, Vecht, C J, Haaxma-Reiche, H, Padberg, G W, Voormolen, J H, Hoekstra, F H, Tans, J T, Lambooij, N, Metsaars, J A, Wattendorff, A R

“…To determine if in patients with single brain metastasis the addition of neurosurgery to radiotherapy leads to lengthening of survival or to better quality of…”
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Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles by WOHLGEMUTH, M, LEMMERS, R. J, VAN DER KOOI, E. L, VAN DER WIELEN, M. J, VAN OVERVELD, P. G, DAUWERSE, H, BAKKER, E, FRANTS, R. R, PADBERG, G. W, VAN DER MAAREL, S. M

“…Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is associated with a contraction of the D4Z4 repeat array on chromosome 4. So far,…”
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Cognitive evaluation in adult patients with Möbius syndrome by VERZIJL, H. T. F. M, VAN ES, N, BERGER, H. J. C, PADBERG, G. W, VAN SPAENDONCK, K. P. M

“…To establish the occurrence of mental retardation in a group of patients with Möbius syndrome and subsequently, if mental retardation is absent, to screen…”
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