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

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  • A unifying genetic model for facioscapulohumeral muscular dystrophy. (2010)

    Auteurs:Lemmers, R.J.; Vliet, P.J.C. Van; Klooster, R.; Sacconi, S.; Camano, P.; Dauwerse, J.G.; Snider, L.; Straasheijm, K.R.; Ommen, G.J.B. van; Padberg, G.W.A.M.; Miller, D.G.; Tapscott, S.J.; Tawil, R.; Frants, R.R.; Maarel, S.M. van der
    In:Science, 329, 1650 - 1653. ISSN 0036-8075.

    Samenvatting:

    Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy in adults that is foremost characterized by progressive wasting of muscles in the upper body. FSHD is associated with contraction of D4Z4 macrosatellite repeats on chromosome 4q35, but this contraction is pathogenic

  • Facioscapulohumerale spierdystrofie (2010)

    Auteurs:Wilbers, J.; Frants, R.R.; Engelen, B.G.M. van; Padberg, G.W.A.M.; Maarel, S.M. van der
    In:Nederlands Tijdschrift voor Tandheelkunde, 117, 11 - 14. ISSN 0028-2200.

    Samenvatting:

    Facioscapulohumeral muscular dystrophy is clinically mainly characterized by progressive weakness of the facial, shoulder and upper arm muscles. It is an autosomal dominant heriditary disease, caused by a contraction of a repetitive DNA element at the end of the long arm of chromosome 4. This contra

  • Clinical features of facioscapulohumeral muscular dystrophy 2. (2010)

    Auteurs:Greef, J.C. de; Lemmers, R.J.; Camano, P.; Day, J.W.; Sacconi, S.; Dunand, M.; Engelen, B.G.M. van; Kiuru-Enari, S.; Padberg, G.W.A.M.; Rosa, A.L.; Desnuelle, C.; Spuler, S.; Tarnopolsky, M.; Venance, S.L.; Frants, R.R.; Maarel, S.M. van der; Tawil, R.
    In:Neurology, 75, 1548 - 1554. ISSN 0028-3878.

    Samenvatting:

    OBJECTIVE: In some 5% of patients with facioscapulohumeral muscular dystrophy (FSHD), no D4Z4 repeat contraction on chromosome 4q35 is observed. Such patients, termed patients with FSHD2, show loss of DNA methylation and heterochromatin markers at the D4Z4 repeat that are similar to patients with D4

  • Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy. (2010)

    Auteurs:Voermans, N.C.; Guillard, M.; Doedee, R.; Lammens, M.M.Y.; Huizing, M.; Padberg, G.W.A.M.; Wevers, R.A.; Engelen, B.G.M. van; Lefeber, D.J.
    In:Clinical Neuropathology, 29, 71 - 77. ISSN 0722-5091.

    Samenvatting:

    We present a comprehensive report of two siblings with hereditary inclusion body myopathy (HIBM). The clinical features and histological characteristics of the muscle biopsies showed the typical pattern of predominantly distal vacuolar myopathy with quadriceps sparing. This was confirmed by muscle M

  • Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. (2010)

    Auteurs:Auer-Grumbach, M.; Olschewski, A.; Papic, L.; Kremer, J.M.J.; McEntagart, M.E.; Uhrig, S.; Fischer, C.; Frohlich, E.; Balint, Z.; Tang, B.; Strohmaier, H.; Lochmuller, H.; Schlotter-Weigel, B.; Senderek, J.; Krebs, A.; Dick, K.J.; Petty, R.; Longman, C.; Anderson, N.E.; Padberg, G.W.A.M.; Schelhaas, H.J.; Ravenswaaij-Arts, C.M.A. van; Pieber, T.R.; Crosby, A.H.; Guelly, C.
    In:Nature Genetics, 42, 160 - 164. ISSN 1061-4036.

    Samenvatting:

    Spinal muscular atrophies (SMA, also known as hereditary motor neuropathies) and hereditary motor and sensory neuropathies (HMSN) are clinically and genetically heterogeneous disorders of the peripheral nervous system. Here we report that mutations in the TRPV4 gene cause congenital distal SMA, scap

  • Effect of aerobic exercise training and cognitive behavioural therapy on reduction of chronic fatigue in patients with facioscapulohumeral dystrophy: protocol of the FACTS-2-FSHD trial. (2010)

    Auteurs:Voet, N.B.M.; Bleijenberg, G.; Padberg, G.W.A.M.; Engelen, B.G.M. van; Geurts, A.C.H.
    In:BMC Neurology, 10, 56 - 56. ISSN 1471-2377.

    Samenvatting:

    BACKGROUND: In facioscapulohumeral dystrophy (FSHD) muscle function is impaired and declines over time. Currently there is no effective treatment available to slow down this decline. We have previously reported that loss of muscle strength contributes to chronic fatigue through a decreased level of

  • 171st ENMC international workshop: Standards of care and management of facioscapulohumeral muscular dystrophy. (2010)

    Auteurs:Tawil, R.; Maarel, S. van der; Padberg, G.W.A.M.; Engelen, B.G.M. van
    In:Neuromuscular Disorders, 20, 471 - 475. ISSN 0960-8966.

  • Only fat infiltrated muscles in resting lower leg of FSHD patients show disturbed energy metabolism. (2010)

    Auteurs:Kan, H.E.; Klomp, D.W.J.; Wohlgemuth, M.; Loosbroek-Wagemans, I.C.W.; Engelen, B.G.M. van; Padberg, G.W.A.M.; Heerschap, A.
    In:NMR in Biomedicine, 23, 563 - 568. ISSN 0952-3480.

    Samenvatting:

    Facioscapulohumeral muscular dystrophy (FSHD) is characterized by asymmetric dysfunctioning of individual muscles. Currently, it is unknown why specific muscles are affected before others and more particularly what pathophysiology is causing this differential progression. The aim of our study was to

  • Facioscapulohumeral muscular dystrophy. (2009)

    Auteurs:Padberg, G.W.A.M.; Engelen, B.G.M. van
    In:Current Opinion in Neurology, 22, 539 - 542. ISSN 1350-7540.

    Samenvatting:

    PURPOSE OF REVIEW: Knowledge of the pathogenetic mechanisms in facioscapulohumeral muscular dystrophy is still scattered, but has recently been advanced through novel developments on the genetic scientific front. RECENT FINDINGS: The present brief review highlights some recent studies on the pathoge

  • Epidemiology and pathophysiology of falls in facioscapulohumeral disease. (2009)

    Auteurs:Horlings, C.G.; Munneke, M.; Bickerstaffe, A.; Laverman, L.; Allum, J.H.J.; Padberg, G.W.A.M.; Bloem, B.R.; Engelen, B.G.M. van
    In:Journal of Neurology Neurosurgery and Psychiatry, 80, 1357 - 1363. ISSN 0022-3050.

    Samenvatting:

    BACKGROUND AND AIMS: Muscle weakness is a potentially important, yet poorly studied, risk factor for falls. Detailed studies of patients with specific myopathies may shed new light on the relation between muscle weakness and falls. Here falls in patients with facioscapulohumeral disease (FSHD) who s

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