Abnormal eyeblink conditioning is an early marker of cerebellar dysfunction in preclinical SCA3 mutation carriers
van Gaalen, J., Maas, R. P. P. W. M., Ippel, E. F., Elting, M. W., van Spaendonck-Zwarts, K. Y., Vermeer, S., Verschuuren-Bemelmans, C., Timmann, D., van de Warrenburg, Bart P.
Published in Experimental brain research (01.02.2019)
Published in Experimental brain research (01.02.2019)
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Clinical and genetic heterogeneity in benign hereditary chorea
Breedveld, G J, Percy, A K, MacDonald, M E, de Vries, B B A, Yapijakis, C, Dure, L S, Ippel, E F, Sandkuijl, L A, Heutink, P, Arts, W F M
Published in Neurology (27.08.2002)
Published in Neurology (27.08.2002)
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Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome
MUENKE, M, BONE, L. J, TESSIER-LAVIGNE, M, PATTERSON, D, MITCHELL, H. F, HART, I, WALTON, K, HALL-JOHNSON, K, IPPEL, E. F, DIETZ-BAND, J, KVALØY, K, CHEN-MING FAN
Published in American journal of human genetics (01.11.1995)
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Published in American journal of human genetics (01.11.1995)
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Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D
van Spaendonck-Zwarts, K. Y., van der Kooi, A. J., van den Berg, M. P., Ippel, E. F., Boven, L. G., Yee, W.-C., van den Wijngaard, A., Brusse, E., Hoogendijk, J. E., Doevendans, P. A., de Visser, M., Jongbloed, J. D. H., van Tintelen, J. P.
Published in Netherlands heart journal (01.05.2012)
Published in Netherlands heart journal (01.05.2012)
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Genotype-phenotype correlation in adult-onset acid maltase deficiency
Wokke, J H, Ausems, M G, van den Boogaard, M J, Ippel, E F, van Diggelene, O, Kroos, M A, Boer, M, Jennekens, F G, Reuser, A J, Ploos van Amstel, H K
Published in Annals of neurology (01.09.1995)
Published in Annals of neurology (01.09.1995)
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Genetic heterogeneity of hereditary motor and sensory neuropathy type VI
Ippel, E F, Wittebol-Post, D, Jennekens, F G, Bijlsma, J B
Published in Journal of child neurology (01.11.1995)
Published in Journal of child neurology (01.11.1995)
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Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 6: A Study of 24 Dutch Families
Sinke, Richard J, Ippel, Elly F, Diepstraten, Conny M, Beemer, Frits A, Wokke, John H. J, van Hilten, Bob J, Knoers, Nine V. A. M, van Amstel, Hans Kristian Ploos, Kremer, H. P. H
Published in Archives of neurology (Chicago) (01.11.2001)
Published in Archives of neurology (Chicago) (01.11.2001)
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Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21
VERBEEK, Dineke S, SCHELHAAS, Jurgen H, IPPEL, Elly F, BEEMER, Frits A, PEARSON, Peter L, SINKE, Richard J
Published in Human genetics (01.10.2002)
Published in Human genetics (01.10.2002)
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