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scopus: 7003728535

Hoogendijk, J.E.

( J.E. Hoogendijk)


mutation patient carrier family p.a 467t mutation polg mutations index phenotype table p.s 13f domain mitochondrial index patients variant failure netherland disease polymerase recessive heart muscle p.n 342d feature epilepsy syndrome study article genotype –phenotype correlations desmin novel alpers syndrome liver failure family details founder liver cardiomyopathy sister genet myopathy dutch university block mtdna symptom ataxia .1399g p.g 517v mutation right compound department mtdna deletions zeviani m deletion atrioventricular block sodium valproate recessive mutations p.a 467t mutations disorder p.n 342d carriers van broeckhoven c conduction alper analysis ophthalmoplegia status epilepticus parent activity abnormality sequence cardiological adult valproate haplotype analysis conduction disease jmg.bmj.com haplotype ptosi polymerase domain obligate brother




2 Most Recent Publications

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
The unfolding clinical spectrum of POLG mutations (Article)
Blok, M.J. Bosch, B.J. van den Coo, I.F.M. de Smeets, H.J. Jongen, E. Hendrickx, A. Die-Smulders, C. de Hoogendijk, J.E. Brusse, E. Visser, M. de Poll-The, B.T. Bierau, J.
2009-11-01