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Prof.dr. B.G.M. van Engelen Persoon

Prof.dr. B.G.M. van Engelen

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  • Coffee and muscle cramps. (2011)

    Auteurs:Voermans, N.C.; Engelen, B.G.M. van
    In:Neuromuscular Disorders, 21, 832 - 832. ISSN 0960-8966.

  • Accelerated skeletal muscle ageing is a molecular signature in OPMD. (2011)

    Auteurs:Venema, A.; Anvar, S.A.; Hoen, P.A.C. 't; Sluijs, B.M. van der; Engelen, B.G. van; Maarel, S.M. van der; Raz, V.
    In:Neuromuscular Disorders, 21, 673 - 673. ISSN 0960-8966.

  • Causes and consequences of cerebral small vessel disease. The RUN DMC study: a prospective cohort study. Study rationale and protocol (2011)Open access

    Auteurs:Norden, A.G.W. van; Laat, K.F. de; Gons, R.A.R.; Uden, I.W.M. van; Dijk, E.J. van; Oudheusden, L.J. van; Esselink, R.A.J.; Bloem, B.R.; Engelen, B.G. van; Zwarts, M.J.; Tendolkar, I.; Olde-Rikkert, M.G.M.; Vlugt, M.J. van der; Zwiers, M.P.; Norris, D.G.; Leeuw, F.E. de
    In:BMC Neurology, 11, 29 - 29. ISSN 1471-2377.

    Samenvatting:

    BACKGROUND: Cerebral small vessel disease (SVD) is a frequent finding on CT and MRI scans of elderly people and is related to vascular risk factors and cognitive and motor impairment, ultimately leading to dementia or parkinsonism in some. In general, the relations are weak, and not all subjects wit

  • Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype (2011)

    Auteurs:Coenen, M.J.H.; Tieleman, A.A.; Schijvenaars, M.M.V.A.P.; Leferink, M.; Ranum, L.P.; Scheffer, H.; Engelen, B.G. van
    In:European Journal of Human Genetics, 19, 567 - 570. ISSN 1018-4813.

    Samenvatting:

    Myotonic dystrophy type 2 (DM2) is a progressive multisystem disease with muscle weakness and myotonia as main characteristics. The disease is caused by a repeat expansion in the zinc-finger protein 9 (ZNF9) gene on chromosome 3q21. Several reports show that patients from European ancestry share an

  • Effects of shared medical appointments on quality of life and cost-effectiveness for patients with a chronic neuromuscular disease. Study protocol of a randomized controlled trial (2011)Open access

    Auteurs:Seesing, F.M.; Drost, G.; Wilt, G.J. van der; Engelen, B.G.M. van
    In:BMC Neurology, 11, 106 - 106. ISSN 1471-2377.

    Samenvatting:

    BACKGROUND: Shared medical appointments are a series of one-to-one doctor-patient contacts, in presence of a group of 6-10 fellow patients. This group visits substitute the annual control visits of patients with the neurologist. The same items attended to in a one-to-one appointment are addressed. T

  • Mild muscular features in tenascin-x knockout mice, a model of ehlers-danlos syndrome (2011)

    Auteurs:Voermans, N.C.; Verrijp, K.; Eshuis, L.; Balemans, M.C.M.; Egging, D.F.; Sterrenburg, E.; Rooij, I.A. van; Laak, J.A.W.M. van der; Schalkwijk, J.; Maarel, S. van der; Lammens, M.M.Y.; Engelen, B.G. van
    In:Connective Tissue Research, 52, 422 - 432. ISSN 0300-8207.

    Samenvatting:

    INTRODUCTION: Tenascin-X (TNX) is an extracellular matrix (ECM) glycoprotein, the absence of which in humans leads to a recessive form of Ehlers-Danlos syndrome (EDS), a group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility

  • Rituximab treatment in patients with refractory inflammatory myopathies (2011)

    Auteurs:Mahler, E.A.; Blom, M.; Voermans, N.C.; Engelen, B.G. van; Riel, P.L. van; Vonk, M.C.
    In:Rheumatology, 50, 2206 - 2213. ISSN 1462-0324.

    Samenvatting:

    Objective. To assess the efficacy of rituximab on disease activity and muscle strength in patients with inflammatory myopathies refractory to conventional therapy. Methods. Thirteen patients were treated with rituximab 1000 mg i.v., twice, with a 2-week interval and followed for a median of 27 month

  • Diagnostic yield of muscle fibre conduction velocity in myopathies (2011)

    Auteurs:Blijham, P.J.; Engelen, B.G. van; Drost, G.; Stegeman, D.F.; Schelhaas, H.J.; Zwarts, M.J.
    In:Journal of the Neurological Sciences, 309, 40 - 44. ISSN 0022-510x.

    Samenvatting:

    We prospectively assessed diagnostic yield of muscle fiber conduction velocity (MFCV) studies in patients with signs and symptoms suggestive of a myopathy. Results were analysed with respect to the final diagnosis, and compared to the reference standard, which was qualitative electromyography (EMG),

  • Disease impact in chronic progressive external ophthalmoplegia: more than meets the eye (2011)

    Auteurs:Smits, B.W.; Fermont, J.; Delnooz, C.C.S.; Kalkman, J.S.; Bleijenberg, G.; Engelen, B.G.M. van
    In:Neuromuscular Disorders, 21, 272 - 278. ISSN 0960-8966.

    Samenvatting:

    We determined the extent of disease impact in 28 patients with genetically confirmed chronic progressive external ophthalmoplegia (CPEO) and compared the outcomes to those of matched myotonic dystrophy type I patients. CPEO patients reported a high frequency of severe fatigue (67.9%), pain (96.2%),

  • Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. (2011)

    Auteurs:Sambuughin, N.; Yau, K.S.; Duff, R.M.; Bayarsaikhan, M.; Lu, S.J.; Gonzalez-Mera, L.; Sivadorai, P.; Nowak, K.J.; Ravenscroft, G.; Mastaglia, F.L.; North, K.N.; Ilkovski, B.; Kremer, H.; Lammens, M.M.; Engelen, B.G.M. van; Fabian, V.; Lamont, P.; Davis, M.R.; Laing, N.G.; Goldfarb, L.G.
    In:American Journal of Human Genetics, 87, 842 - 842. ISSN 0002-9297.

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