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 & 18 others 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

Research output: Contribution to journalArticleAcademicpeer-review

Original languageUndefined/Unknown
Pages (from-to)1113-1118
JournalNature Genetics
Volume40
Issue number9
DOIs
Publication statusPublished - 2008

Cite this

Budde, B. S., Namavar, Y., Barth, P. G., Poll-The, B., Nurnberg, G., Becker, C., ... 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 journalArticleAcademicpeer-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

VL - 40

SP - 1113

EP - 1118

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 9

ER -

Budde BS, Namavar Y, Barth PG, Poll-The B, Nurnberg G, Becker C et al. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nature Genetics. 2008;40(9):1113-1118. https://doi.org/10.1038/ng.204