Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan

T. Roscioli; E.J. Kamsteeg; K. Buysse; I. Maystadt; J. van Reeuwijk; C. van den Elzen; E. van Beusekom; M. Riemersma; R. Pfundt; L.E.L.M. Vissers; M. Schraders; U. Altunoglu; M.F. Buckley; H.G. Brunner; B. Grisart; H.Q. Zhou; J.A. Veltman; C. Gilissen; G.M.S. Mancini; P. Delree; M.A. Willemsen; D.P. Ramadza; D. Chitayat; C. Bennett; E. Sheridan; E.A.J. Peeters; M.B. Tan-Sindhunata; C.E. de Die-Smulders; K. Devriendt; H. Kayserili; O.A. El-Hashash; D.L. Stemple; D.J. Lefeber; Y.Y. Lin; H. van Bokhoven

doi:https://doi.org/10.1038/ng.2253

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan

T. Roscioli, E.J. Kamsteeg, K. Buysse, I. Maystadt, J. van Reeuwijk, C. van den Elzen, E. van Beusekom, M. Riemersma, R. Pfundt, L.E.L.M. Vissers, M. Schraders, U. Altunoglu, M.F. Buckley, H.G. Brunner, B. Grisart, H.Q. Zhou, J.A. Veltman, C. Gilissen, G.M.S. Mancini, P. DelreeM.A. Willemsen, D.P. Ramadza, D. Chitayat, C. Bennett, E. Sheridan, E.A.J. Peeters, M.B. Tan-Sindhunata, C.E. de Die-Smulders, K. Devriendt, H. Kayserili, O.A. El-Hashash, D.L. Stemple, D.J. Lefeber, Y.Y. Lin, H. van Bokhoven

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

175 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	581-585
Journal	Nature Genetics
Volume	44
Issue number	5
DOIs	https://doi.org/10.1038/ng.2253
Publication status	Published - 2012

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Roscioli, T., Kamsteeg, E. J., Buysse, K., Maystadt, I., van Reeuwijk, J., van den Elzen, C., van Beusekom, E., Riemersma, M., Pfundt, R., Vissers, L. E. L. M., Schraders, M., Altunoglu, U., Buckley, M. F., Brunner, H. G., Grisart, B., Zhou, H. Q., Veltman, J. A., Gilissen, C., Mancini, G. M. S., ... van Bokhoven, H. (2012). Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. Nature Genetics, 44(5), 581-585. https://doi.org/10.1038/ng.2253

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title = "Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan",

author = "T. Roscioli and E.J. Kamsteeg and K. Buysse and I. Maystadt and {van Reeuwijk}, J. and {van den Elzen}, C. and {van Beusekom}, E. and M. Riemersma and R. Pfundt and L.E.L.M. Vissers and M. Schraders and U. Altunoglu and M.F. Buckley and H.G. Brunner and B. Grisart and H.Q. Zhou and J.A. Veltman and C. Gilissen and G.M.S. Mancini and P. Delree and M.A. Willemsen and D.P. Ramadza and D. Chitayat and C. Bennett and E. Sheridan and E.A.J. Peeters and M.B. Tan-Sindhunata and {de Die-Smulders}, C.E. and K. Devriendt and H. Kayserili and O.A. El-Hashash and D.L. Stemple and D.J. Lefeber and Y.Y. Lin and {van Bokhoven}, H.",

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Roscioli, T, Kamsteeg, EJ, Buysse, K, Maystadt, I, van Reeuwijk, J, van den Elzen, C, van Beusekom, E, Riemersma, M, Pfundt, R, Vissers, LELM, Schraders, M, Altunoglu, U, Buckley, MF, Brunner, HG, Grisart, B, Zhou, HQ, Veltman, JA, Gilissen, C, Mancini, GMS, Delree, P, Willemsen, MA, Ramadza, DP, Chitayat, D, Bennett, C, Sheridan, E, Peeters, EAJ, Tan-Sindhunata, MB, de Die-Smulders, CE, Devriendt, K, Kayserili, H, El-Hashash, OA, Stemple, DL, Lefeber, DJ, Lin, YY & van Bokhoven, H 2012, 'Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan', Nature Genetics, vol. 44, no. 5, pp. 581-585. https://doi.org/10.1038/ng.2253

TY - JOUR

T1 - Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan

AU - Roscioli, T.

AU - Kamsteeg, E.J.

AU - Buysse, K.

AU - Maystadt, I.

AU - van Reeuwijk, J.

AU - van den Elzen, C.

AU - van Beusekom, E.

AU - Riemersma, M.

AU - Pfundt, R.

AU - Vissers, L.E.L.M.

AU - Schraders, M.

AU - Altunoglu, U.

AU - Buckley, M.F.

AU - Brunner, H.G.

AU - Grisart, B.

AU - Zhou, H.Q.

AU - Veltman, J.A.

AU - Gilissen, C.

AU - Mancini, G.M.S.

AU - Delree, P.

AU - Willemsen, M.A.

AU - Ramadza, D.P.

AU - Chitayat, D.

AU - Bennett, C.

AU - Sheridan, E.

AU - Peeters, E.A.J.

AU - Tan-Sindhunata, M.B.

AU - de Die-Smulders, C.E.

AU - Devriendt, K.

AU - Kayserili, H.

AU - El-Hashash, O.A.

AU - Stemple, D.L.

AU - Lefeber, D.J.

AU - Lin, Y.Y.

AU - van Bokhoven, H.

PY - 2012

Y1 - 2012

U2 - https://doi.org/10.1038/ng.2253

DO - https://doi.org/10.1038/ng.2253

M3 - Article

C2 - 22522421

SN - 1061-4036

VL - 44

SP - 581

EP - 585

JO - Nature Genetics

JF - Nature Genetics

IS - 5

ER -