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scopus: 7006620354

Visser, M. de

(Marianne de Visser)


patient mutation disease study symptom muscle spg 7 mutation neurology radiculopathy carrier region bulbar family phenotype spg 4 netherland journal weakness onset syndrome month university van der ploeg treatment pompe enzyme replacement therapy table involvement center department muscle strength pompe disease therapy diagnosis range right p.s 13f spine position bulbar region symptoms sumscore index patients analysis spastic reuser aj cohort result van doorn pa root compression erasmus mc university course cause function value sclerosis heart van den berg index compression lems patients spastic paraplegia myopathy group follow-up motor strength p.n 342d disorder enzyme mrc sumscore spastic paraparesis orphanet journal neurol percentage – folate characteristic bulbar region involvement lactic acidosis bg adult trial




7 Most Recent Publications

ANO5 mutations in the Dutch limb girdle muscular dystrophy population (Article)
Kooi, A.J. van der Dam, L. ten Frankhuizen, W.S. Straathof, C.S.M. Doorn, P.A. van Visser, M. de Ginjaar, I.B.
2013-04-22
Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: An open-label single-center study (Article)
Vries, J.M. de Beek, N.A.M.E. van der Faber, C.G. Verschuuren, J.J. Kruijshaar, M.E. Reuser, A.J.J. Doorn, P.A. van Ploeg, A.T. van der Hop, W.C.J. Karstens, F.P. Wokke, J.H.J. Visser, M. de Engelen, B.G. van Kuks, J.B.M. Kooi, A.J. van der Notermans, N.C.
2012-09-28
Recurrent and founder mutations in the Netherlands: The cardiac phenotype of DES founder mutations p.S13F and p.N342D (Article)
Spaendonck-Zwarts, K.Y. van Kooi, A.J. van der Visser, M. de Jongbloed, J.D.H. Tintelen, J.P. van Berg, M.P. van den Ippel, E.F. Boven, L.G. Yee, W.C. Wijngaard, A. van den Brusse, E. Hoogendijk, J.E. Doevendans, P.A.
2012-05-01
Differentiation of hereditary spastic paraparesis from primary lateral sclerosis in sporadic adult-onset upper motor neuron syndromes (Article)
Brugman, F. Veldink, J.H. Bruyn, R.P.M. Kuks, J.B.M. Robberecht, W. Wokke, J.H.J. Berg, L.H. van den Franssen, H. Visser, M. de Vianney de Jong, J.M.B. Faber, C.G. Kremer, B.H.P. Schelhaaspieter, J. Doorn, V. Verschuuren, J.J.
2009-04-01
Degenerative cervical radiculopathy: Diagnosis and conservative treatment. A review (Article)
Kuijper, B. Tans, J.T.J. Schimsheimer, R.J. Kallen, B.F.W. van der Beelen, A. Nollet, F. Visser, M. de
2009-01-01
The Lambert-Eaton myasthenic syndrome 1988-2008: A clinical picture in 97 patients (Article)
Titulaer, M.J. Wirtz, P.W. Kuks, J.B.M. Schelhaas, H.J. Kooi, A.J. van der Faber, C.G. Pol, W.L. van der Visser, M. de Smitt, P.A. Verschuuren, J.J.
2008-09-15
Extension of the clinical spectrum of Danon disease (Article)
Kooi, A.J. van der Langen, I.M. van Visser, M. de Aronica, E. Doorn, P.A. van Wokke, J.H.J. Brusse, E. Langerhorst, C.T. Bergin, P. Dekker, L.R.C. Lekanne Dit Deprez, R.H.
2008-04-01