KNAW

Back to search results
Person

Prof.dr. G.W.A.M. Padberg

Pagina-navigatie:
filter results
Type
Date
Accessibility
Institution

11-20 out of 67 results by:date

Save search results

  • Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy. (2009)

    Authors:Kan, H.E.; Scheenen, T.W.J.; Wohlgemuth, M.; Klomp, D.W.J.; Loosbroek-Wagemans, I.C.W.; Padberg, G.W.A.M.; Heerschap, A.
    In:Neuromuscular Disorders, 19, 357 - 362. ISSN 0960-8966.

    Abstract:

    The purpose of this study was to implement a quantitative MR imaging method for the determination of muscular and fat content in individual skeletal muscles of patients with facioscapulohumeral muscular dystrophy (FSHD). Turbo Inversion Recovery Magnitude (TIRM) and multiecho MR images were acquired

  • Facioscapulohumeral muscular dystrophy. (2007)

    Authors:Maarel, S.M. van der; Frants, R.R.; Padberg, G.W.A.M.
    In:Biochimica et biophysica acta. Molecular basis of disease, 1772, 186 - 194. ISSN 0925-4439.

    Abstract:

    Facioscapulohumeral muscular dystrophy (FSHD) is caused by a cascade of epigenetic events following contraction of the polymorphic macrosatellite repeat D4Z4 in the subtelomere of chromosome 4q. Currently, the central issue is whether immediate downstream effects are local (i.e., at chromosome 4q) o

  • Effects of training and albuterol on pain and fatigue in facioscapulohumeral muscular dystrophy. (2007)

    Authors:Kooi, E.L. van der; Kalkman, J.S.; Lindeman, E.; Hendriks, J.C.M.; Engelen, B.G.M. van; Bleijenberg, G.; Padberg, G.W.A.M.
    In:Journal of Neurology, 254, 931 - 940. ISSN 0340-5354.

    Abstract:

    BACKGROUND : We recently reported a randomised controlled trial on the efficacy of strength training and the beta2-adrenergic agonist albuterol in patients with facioscapulohumeral muscular dystrophy (FSHD). Strength training and albuterol appeared safe interventions with limited positive effect on

  • Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families. (2007)

    Authors:Kooi, A.J. van der; Frankhuizen, W.S.; Barth, P.G.; Howeler, C.J.; Padberg, G.W.A.M.; Spaans, F.; Wintzen, A.R.; Wokke, J.H.J.; Ommen, G.J.B. van
    In:Neurology, 68, 2125 - 2128. ISSN 0028-3878.

    Abstract:

    Pheno- and genotype correlation is attempted in a Dutch cross-sectional study on limb- girdle muscular dystrophy. Sarcoglycans, caveolin-3, calpain-3, and dysferlin were analyzed on muscle tissue. Mutation analysis of the calpain-3, caveolin-3, and fukutin-related protein gene was executed in succes

  • Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD. (2007)

    Authors:Greef, J.C. de; Wohlgemuth, M.; Chan, O.A.; Hansson, K.B.; Smeets, D.F.C.M.; Frants, R.R.; Weemaes, C.M.R.; Padberg, G.W.A.M.; Maarel, S.M. van der
    In:Neurology, 69, 1018 - 1026. ISSN 0028-3878.

    Abstract:

    BACKGROUND: Patients with facioscapulohumeral muscular dystrophy (FSHD) show a contraction of the D4Z4 repeat array in the subtelomere of chromosome 4q. This D4Z4 contraction is associated with significant allele-specific hypomethylation of the repeat. Hypomethylation of D4Z4 is also observed in pat

  • Pushing the genetic frontier with facioscapulohumeral muscular dystrophy. (2007)

    Authors:Greenberg, S.A.; Padberg, G.W.A.M.
    In:Neurology, 68, 544 - 545. ISSN 0028-3878.

  • Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. (2007)

    Authors:Lemmers, R.J.L.F.; Wohlgemuth, M.; Gaag, K.J. van der; Vliet, P. van der; Teijlingen, C.M. van; Knijff, P. de; Padberg, G.W.A.M.; Frants, R.R.; Maarel, S.M. van der
    In:American journal of human genetics, 81, 884 - 894. ISSN 0002-9297.

    Abstract:

    Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is mainly characterized by progressive wasting and weakness of the facial, shoulder, and upper-arm muscles. FSHD is caused by contraction of the macrosatellite repeat D4Z4 on chromosome 4q35. The D4Z4 repeat is very polymorphic in leng

  • No effect of folic acid and methionine supplementation on D4Z4 methylation in patients with facioscapulohumeral muscular dystrophy. (2006)

    Authors:Kooi, E.L. van der; Greef, J.C. de; Wohlgemuth, M.; Frants, R.R.; Asseldonk, R.J. van; Blom, H.J.; Engelen, B.G.M. van; Maarel, S.M. van der; Padberg, G.W.A.M.
    In:Neuromuscular Disorders, 16, 766 - 769. ISSN 0960-8966.

    Abstract:

    Facioscapulohumeral muscular dystrophy (FSHD) is associated with a contraction of the D4Z4 allele on chromosome 4qter. There is also marked DNA hypomethylation of the D4Z4 allele. The DNA hypomethylation may have a central role in the pathogenesis of FSHD. Supplemental folic acid can boost DNA methy

  • Dysphagia in facioscapulohumeral muscular dystrophy. (2006)

    Authors:Wohlgemuth, M.; Swart, B.J.M. de; Kalf, J.G.; Joosten, F.B.M.; Vliet, A.M. van der; Padberg, G.W.A.M.
    In:Neurology, 66, 1926 - 1928. ISSN 0028-3878.

    Abstract:

    Dysphagia is not considered a symptom of facioscapulohumeral muscular dystrophy (FSHD). In this study, the authors found that dysphagia does occur in patients with advanced FSHD showing mild involvement of the jaw and lingual muscles. Dysphagia is seldom life threatening in these patients. The autho

  • Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes. (2006)

    Authors:Michielse, C.B.; Bhat, M.; Brady, A.; Jafrid, H.; Hurk, J.A.J.M. van den; Raashid, Y.; Brunner, H.G.; Bokhoven, J.H.L.M. van; Padberg, G.W.A.M.
    In:European Journal of Human Genetics, 14, 1306 - 1312. ISSN 1018-4813.

    Abstract:

    Hereditary congenital facial palsy (HCFP) is an autosomal-dominant disorder consisting of paresis or paralysis of the VIIth (facial) cranial nerve. Genetic heterogeneity for this disorder has been suggested based on linkage analysis in two large Dutch families. Two loci have been identified, one on

Pages:

 < 1 2 3 4 5 6 7 > 

Go to page top
Go back to contents
Go back to site navigation