Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study

M.M.M. Verhagen; J.I. Last; F.B.L. Hogervorst; D.F.C.M. Smeets; N. Roeleveld; F. Verheijen; C.E. Catsman-Berrevoets; NM Wulffraat; J.M. Cobben; J. Hiel; E.R. Brunt; E.A.J. Peeters; E.B.G. Garcia; M.S. van der Knaap; C.R. Lincke; L.A.E.M. Laan; M.A.J. Tijssen; M.A. van Rijn; D. Majoor-Krakauer; M. Visser; L.J. van 't Veer; W.J. Kleijer; B.P.C. van de Warrenburg; A. Warris; I.J.M. de Groot; R. de Groot; A. Broeks; F. Preijers; B.H.P.H. Kremer; C.M.R. Weemaes; M.A.M.R. Taylor; M. van Deuren; M.A.A.P. Willemsen

doi:10.1002/humu.22016

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study

M.M.M. Verhagen, J.I. Last, F.B.L. Hogervorst, D.F.C.M. Smeets, N. Roeleveld, F. Verheijen, C.E. Catsman-Berrevoets, NM Wulffraat, J.M. Cobben, J. Hiel, E.R. Brunt, E.A.J. Peeters, E.B.G. Garcia, M.S. van der Knaap, C.R. Lincke, L.A.E.M. Laan, M.A.J. Tijssen, M.A. van Rijn, D. Majoor-Krakauer, M. VisserL.J. van 't Veer, W.J. Kleijer, B.P.C. van de Warrenburg, A. Warris, I.J.M. de Groot, R. de Groot, A. Broeks, F. Preijers, B.H.P.H. Kremer, C.M.R. Weemaes, M.A.M.R. Taylor, M. van Deuren, M.A.A.P. Willemsen

Research output: Contribution to journal › Article › Academic › peer-review

Original language	Undefined/Unknown
Pages (from-to)	561-571
Journal	Human Mutation
Volume	33
Issue number	3
DOIs	https://doi.org/10.1002/humu.22016
Publication status	Published - 2012

Access to Document

10.1002/humu.22016

Cite this

Verhagen, M. M. M., Last, J. I., Hogervorst, F. B. L., Smeets, D. F. C. M., Roeleveld, N., Verheijen, F., Catsman-Berrevoets, C. E., Wulffraat, NM., Cobben, J. M., Hiel, J., Brunt, E. R., Peeters, E. A. J., Garcia, E. B. G., van der Knaap, M. S., Lincke, C. R., Laan, L. A. E. M., Tijssen, M. A. J., van Rijn, M. A., Majoor-Krakauer, D., ... Willemsen, M. A. A. P. (2012). Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study. Human Mutation, 33(3), 561-571. https://doi.org/10.1002/humu.22016

@article{7e297b1ea8cb4259baa3edef7f75816b,

title = "Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study",

author = "M.M.M. Verhagen and J.I. Last and F.B.L. Hogervorst and D.F.C.M. Smeets and N. Roeleveld and F. Verheijen and C.E. Catsman-Berrevoets and NM Wulffraat and J.M. Cobben and J. Hiel and E.R. Brunt and E.A.J. Peeters and E.B.G. Garcia and {van der Knaap}, M.S. and C.R. Lincke and L.A.E.M. Laan and M.A.J. Tijssen and {van Rijn}, M.A. and D. Majoor-Krakauer and M. Visser and {van 't Veer}, L.J. and W.J. Kleijer and {van de Warrenburg}, B.P.C. and A. Warris and {de Groot}, I.J.M. and {de Groot}, R. and A. Broeks and F. Preijers and B.H.P.H. Kremer and C.M.R. Weemaes and M.A.M.R. Taylor and {van Deuren}, M. and M.A.A.P. Willemsen",

year = "2012",

doi = "10.1002/humu.22016",

language = "Undefined/Unknown",

volume = "33",

pages = "561--571",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "Wiley-Liss Inc.",

number = "3",

}

Verhagen, MMM, Last, JI, Hogervorst, FBL, Smeets, DFCM, Roeleveld, N, Verheijen, F, Catsman-Berrevoets, CE, Wulffraat, NM, Cobben, JM, Hiel, J, Brunt, ER, Peeters, EAJ, Garcia, EBG, van der Knaap, MS, Lincke, CR, Laan, LAEM, Tijssen, MAJ, van Rijn, MA, Majoor-Krakauer, D, Visser, M, van 't Veer, LJ, Kleijer, WJ, van de Warrenburg, BPC, Warris, A, de Groot, IJM, de Groot, R, Broeks, A, Preijers, F, Kremer, BHPH, Weemaes, CMR, Taylor, MAMR, van Deuren, M & Willemsen, MAAP 2012, 'Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study', Human Mutation, vol. 33, no. 3, pp. 561-571. https://doi.org/10.1002/humu.22016

TY - JOUR

T1 - Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study

AU - Verhagen, M.M.M.

AU - Last, J.I.

AU - Hogervorst, F.B.L.

AU - Smeets, D.F.C.M.

AU - Roeleveld, N.

AU - Verheijen, F.

AU - Catsman-Berrevoets, C.E.

AU - Wulffraat, NM

AU - Cobben, J.M.

AU - Hiel, J.

AU - Brunt, E.R.

AU - Peeters, E.A.J.

AU - Garcia, E.B.G.

AU - van der Knaap, M.S.

AU - Lincke, C.R.

AU - Laan, L.A.E.M.

AU - Tijssen, M.A.J.

AU - van Rijn, M.A.

AU - Majoor-Krakauer, D.

AU - Visser, M.

AU - van 't Veer, L.J.

AU - Kleijer, W.J.

AU - van de Warrenburg, B.P.C.

AU - Warris, A.

AU - de Groot, I.J.M.

AU - de Groot, R.

AU - Broeks, A.

AU - Preijers, F.

AU - Kremer, B.H.P.H.

AU - Weemaes, C.M.R.

AU - Taylor, M.A.M.R.

AU - van Deuren, M.

AU - Willemsen, M.A.A.P.

PY - 2012

Y1 - 2012

U2 - 10.1002/humu.22016

DO - 10.1002/humu.22016

M3 - Article

C2 - 22213089

VL - 33

SP - 561

EP - 571

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 3

ER -