EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

V. Boczonadi; J.S. Müller; A. Pyle; J. Munkley; T. Dor; J. Quartararo; I. Ferrero; V. Karcagi; M. Giunta; T. Polvikoski; D. Birchall; A. Princzinger; Y. Cinnamon; S. Lützkendorf; H. Piko; M. Reza; Laura Florez; M. Santibanez-Koref; H. Griffin; M. Schuelke; O. Elpeleg; Luba Kalaydjieva; H. Lochmüller; D.J., Elliott; P.F. Chinnery; S. Edvardson; R. Horvath

doi:10.1038/ncomms5287

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

V. Boczonadi, J.S. Müller, A. Pyle, J. Munkley, T. Dor, J. Quartararo, I. Ferrero, V. Karcagi, M. Giunta, T. Polvikoski, D. Birchall, A. Princzinger, Y. Cinnamon, S. Lützkendorf, H. Piko, M. Reza, Laura Florez, M. Santibanez-Koref, H. Griffin, M. SchuelkeO. Elpeleg, Luba Kalaydjieva, H. Lochmüller, D.J., Elliott, P.F. Chinnery, S. Edvardson, R. Horvath

UWA Centre for Medical Research (affiliated with the Harry Perkins Institute of Medical Research)

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

99 Citations (Scopus)

Original language	English
Pages (from-to)	1-13
Journal	Nature Communications
Volume	5
DOIs	https://doi.org/10.1038/ncomms5287
Publication status	Published - 2014

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10.1038/ncomms5287

Cite this

Boczonadi, V., Müller, J. S., Pyle, A., Munkley, J., Dor, T., Quartararo, J., Ferrero, I., Karcagi, V., Giunta, M., Polvikoski, T., Birchall, D., Princzinger, A., Cinnamon, Y., Lützkendorf, S., Piko, H., Reza, M., Florez, L., Santibanez-Koref, M., Griffin, H., ... Horvath, R. (2014). EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. Nature Communications, 5, 1-13. https://doi.org/10.1038/ncomms5287

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title = "EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia",

author = "V. Boczonadi and J.S. M{\"u}ller and A. Pyle and J. Munkley and T. Dor and J. Quartararo and I. Ferrero and V. Karcagi and M. Giunta and T. Polvikoski and D. Birchall and A. Princzinger and Y. Cinnamon and S. L{\"u}tzkendorf and H. Piko and M. Reza and Laura Florez and M. Santibanez-Koref and H. Griffin and M. Schuelke and O. Elpeleg and Luba Kalaydjieva and H. Lochm{\"u}ller and D.J., Elliott and P.F. Chinnery and S. Edvardson and R. Horvath",

year = "2014",

doi = "10.1038/ncomms5287",

language = "English",

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pages = "1--13",

journal = "Nature Communications",

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Boczonadi, V, Müller, JS, Pyle, A, Munkley, J, Dor, T, Quartararo, J, Ferrero, I, Karcagi, V, Giunta, M, Polvikoski, T, Birchall, D, Princzinger, A, Cinnamon, Y, Lützkendorf, S, Piko, H, Reza, M, Florez, L, Santibanez-Koref, M, Griffin, H, Schuelke, M, Elpeleg, O, Kalaydjieva, L, Lochmüller, H, Elliott, DJ, Chinnery, PF, Edvardson, S & Horvath, R 2014, 'EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia', Nature Communications, vol. 5, pp. 1-13. https://doi.org/10.1038/ncomms5287

TY - JOUR

T1 - EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

AU - Boczonadi, V.

AU - Müller, J.S.

AU - Pyle, A.

AU - Munkley, J.

AU - Dor, T.

AU - Quartararo, J.

AU - Ferrero, I.

AU - Karcagi, V.

AU - Giunta, M.

AU - Polvikoski, T.

AU - Birchall, D.

AU - Princzinger, A.

AU - Cinnamon, Y.

AU - Lützkendorf, S.

AU - Piko, H.

AU - Reza, M.

AU - Florez, Laura

AU - Santibanez-Koref, M.

AU - Griffin, H.

AU - Schuelke, M.

AU - Elpeleg, O.

AU - Kalaydjieva, Luba

AU - Lochmüller, H.

AU - Elliott, D.J.,

AU - Chinnery, P.F.

AU - Edvardson, S.

AU - Horvath, R.

PY - 2014

Y1 - 2014

U2 - 10.1038/ncomms5287

DO - 10.1038/ncomms5287

M3 - Article

C2 - 24989451

SN - 2041-1723

VL - 5

SP - 1

EP - 13

JO - Nature Communications

JF - Nature Communications

ER -