tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

B.S. Budde; Y. Namavar; P.G. Barth; B. Poll-The; G. Nurnberg; C. Becker; F. van Ruissen; M.A.J. Weterman; K. Fluiter; E.T.T. Beek; E. Aronica; M.S. van der Knaap; W. Hohne; M.R. Toliat; Y.J. Crow; M. Steinlin; T. Voit; F. Roelens; W. Brussel; K. Brockmann; M. Kyllerman; E. Boltshauser; G. Hammersen; M. Willemsen; L. Basel-Vanagaite; I. Krageloh-Mann; L.S. de Vries; L. Sztriha; F. Muntoni; C.D. Ferrie; R. Battini; R.C.M. Hennekam; E. Grillo; F.A. Beemer; L.M.E. Stoets; B. Wollnik; P. Nurnberg; F. Baas

doi:10.1038/ng.204

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

B.S. Budde, Y. Namavar, P.G. Barth, B. Poll-The, G. Nurnberg, C. Becker, F. van Ruissen, M.A.J. Weterman, K. Fluiter, E.T.T. Beek, E. Aronica, M.S. van der Knaap, W. Hohne, M.R. Toliat, Y.J. Crow, M. Steinlin, T. Voit, F. Roelens, W. Brussel, K. BrockmannM. Kyllerman, E. Boltshauser, G. Hammersen, M. Willemsen, L. Basel-Vanagaite, I. Krageloh-Mann, L.S. de Vries, L. Sztriha, F. Muntoni, C.D. Ferrie, R. Battini, R.C.M. Hennekam, E. Grillo, F.A. Beemer, L.M.E. Stoets, B. Wollnik, P. Nurnberg, F. Baas

Pediatrics

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

Original language	Undefined/Unknown
Pages (from-to)	1113-1118
Journal	Nature Genetics
Volume	40
Issue number	9
DOIs	https://doi.org/10.1038/ng.204
Publication status	Published - 2008

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10.1038/ng.204

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Budde, B. S., Namavar, Y., Barth, P. G., Poll-The, B., Nurnberg, G., Becker, C., van Ruissen, F., Weterman, M. A. J., Fluiter, K., Beek, E. T. T., Aronica, E., van der Knaap, M. S., Hohne, W., Toliat, M. R., Crow, Y. J., Steinlin, M., Voit, T., Roelens, F., Brussel, W., ... Baas, F. (2008). tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nature Genetics, 40(9), 1113-1118. https://doi.org/10.1038/ng.204

Budde, B.S. ; Namavar, Y. ; Barth, P.G. ; Poll-The, B. ; Nurnberg, G. ; Becker, C. ; van Ruissen, F. ; Weterman, M.A.J. ; Fluiter, K. ; Beek, E.T.T. ; Aronica, E. ; van der Knaap, M.S. ; Hohne, W. ; Toliat, M.R. ; Crow, Y.J. ; Steinlin, M. ; Voit, T. ; Roelens, F. ; Brussel, W. ; Brockmann, K. ; Kyllerman, M. ; Boltshauser, E. ; Hammersen, G. ; Willemsen, M. ; Basel-Vanagaite, L. ; Krageloh-Mann, I. ; de Vries, L.S. ; Sztriha, L. ; Muntoni, F. ; Ferrie, C.D. ; Battini, R. ; Hennekam, R.C.M. ; Grillo, E. ; Beemer, F.A. ; Stoets, L.M.E. ; Wollnik, B. ; Nurnberg, P. ; Baas, F. / tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. In: Nature Genetics. 2008 ; Vol. 40, No. 9. pp. 1113-1118.

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title = "tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia",

author = "B.S. Budde and Y. Namavar and P.G. Barth and B. Poll-The and G. Nurnberg and C. Becker and {van Ruissen}, F. and M.A.J. Weterman and K. Fluiter and E.T.T. Beek and E. Aronica and {van der Knaap}, M.S. and W. Hohne and M.R. Toliat and Y.J. Crow and M. Steinlin and T. Voit and F. Roelens and W. Brussel and K. Brockmann and M. Kyllerman and E. Boltshauser and G. Hammersen and M. Willemsen and L. Basel-Vanagaite and I. Krageloh-Mann and {de Vries}, L.S. and L. Sztriha and F. Muntoni and C.D. Ferrie and R. Battini and R.C.M. Hennekam and E. Grillo and F.A. Beemer and L.M.E. Stoets and B. Wollnik and P. Nurnberg and F. Baas",

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Budde, BS, Namavar, Y, Barth, PG, Poll-The, B, Nurnberg, G, Becker, C, van Ruissen, F, Weterman, MAJ, Fluiter, K, Beek, ETT, Aronica, E, van der Knaap, MS, Hohne, W, Toliat, MR, Crow, YJ, Steinlin, M, Voit, T, Roelens, F, Brussel, W, Brockmann, K, Kyllerman, M, Boltshauser, E, Hammersen, G, Willemsen, M, Basel-Vanagaite, L, Krageloh-Mann, I, de Vries, LS, Sztriha, L, Muntoni, F, Ferrie, CD, Battini, R, Hennekam, RCM, Grillo, E, Beemer, FA, Stoets, LME, Wollnik, B, Nurnberg, P & Baas, F 2008, 'tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia', Nature Genetics, vol. 40, no. 9, pp. 1113-1118. https://doi.org/10.1038/ng.204

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. / Budde, B.S.; Namavar, Y.; Barth, P.G.; Poll-The, B.; Nurnberg, G.; Becker, C.; van Ruissen, F.; Weterman, M.A.J.; Fluiter, K.; Beek, E.T.T.; Aronica, E.; van der Knaap, M.S.; Hohne, W.; Toliat, M.R.; Crow, Y.J.; Steinlin, M.; Voit, T.; Roelens, F.; Brussel, W.; Brockmann, K.; Kyllerman, M.; Boltshauser, E.; Hammersen, G.; Willemsen, M.; Basel-Vanagaite, L.; Krageloh-Mann, I.; de Vries, L.S.; Sztriha, L.; Muntoni, F.; Ferrie, C.D.; Battini, R.; Hennekam, R.C.M.; Grillo, E.; Beemer, F.A.; Stoets, L.M.E.; Wollnik, B.; Nurnberg, P.; Baas, F.

In: Nature Genetics, Vol. 40, No. 9, 2008, p. 1113-1118.

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

TY - JOUR

T1 - tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

AU - Budde, B.S.

AU - Namavar, Y.

AU - Barth, P.G.

AU - Poll-The, B.

AU - Nurnberg, G.

AU - Becker, C.

AU - van Ruissen, F.

AU - Weterman, M.A.J.

AU - Fluiter, K.

AU - Beek, E.T.T.

AU - Aronica, E.

AU - van der Knaap, M.S.

AU - Hohne, W.

AU - Toliat, M.R.

AU - Crow, Y.J.

AU - Steinlin, M.

AU - Voit, T.

AU - Roelens, F.

AU - Brussel, W.

AU - Brockmann, K.

AU - Kyllerman, M.

AU - Boltshauser, E.

AU - Hammersen, G.

AU - Willemsen, M.

AU - Basel-Vanagaite, L.

AU - Krageloh-Mann, I.

AU - de Vries, L.S.

AU - Sztriha, L.

AU - Muntoni, F.

AU - Ferrie, C.D.

AU - Battini, R.

AU - Hennekam, R.C.M.

AU - Grillo, E.

AU - Beemer, F.A.

AU - Stoets, L.M.E.

AU - Wollnik, B.

AU - Nurnberg, P.

AU - Baas, F.

PY - 2008

Y1 - 2008

U2 - 10.1038/ng.204

DO - 10.1038/ng.204

M3 - Article

C2 - 18711368

VL - 40

SP - 1113

EP - 1118

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 9

ER -