Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway

S. Edvardson; G. Tian; Hayley Cullen; Hannah Vanyai; Linh Ngo; Saiuj Bhat; A. Aran; M. Daana; N. Da'amseh; B. Abu-Libdeh; N.J. J. Cowan; Julian I.T. Heng; O. Elpeleg

doi:10.1093/hmg/ddw292

Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway

S. Edvardson, G. Tian, Hayley Cullen, Hannah Vanyai, Linh Ngo, Saiuj Bhat, A. Aran, M. Daana, N. Da'amseh, B. Abu-Libdeh, N.J. J. Cowan, Julian I.T. Heng, O. Elpeleg

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

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

25 Citations (Scopus)

Original language	English
Pages (from-to)	4635-4638
Number of pages	4
Journal	Human Molecular Genetics
Volume	25
Issue number	21
DOIs	https://doi.org/10.1093/hmg/ddw292
Publication status	Published - 2016

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10.1093/hmg/ddw292

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Edvardson, S., Tian, G., Cullen, H., Vanyai, H., Ngo, L., Bhat, S., Aran, A., Daana, M., Da'amseh, N., Abu-Libdeh, B., Cowan, N. J. J., Heng, J. I. T., & Elpeleg, O. (2016). Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway. Human Molecular Genetics, 25(21), 4635-4638. https://doi.org/10.1093/hmg/ddw292

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title = "Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway",

author = "S. Edvardson and G. Tian and Hayley Cullen and Hannah Vanyai and Linh Ngo and Saiuj Bhat and A. Aran and M. Daana and N. Da'amseh and B. Abu-Libdeh and Cowan, {N.J. J.} and Heng, {Julian I.T.} and O. Elpeleg",

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Edvardson, S, Tian, G, Cullen, H, Vanyai, H, Ngo, L, Bhat, S, Aran, A, Daana, M, Da'amseh, N, Abu-Libdeh, B, Cowan, NJJ, Heng, JIT & Elpeleg, O 2016, 'Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway', Human Molecular Genetics, vol. 25, no. 21, pp. 4635-4638. https://doi.org/10.1093/hmg/ddw292

TY - JOUR

T1 - Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway

AU - Edvardson, S.

AU - Tian, G.

AU - Cullen, Hayley

AU - Vanyai, Hannah

AU - Ngo, Linh

AU - Bhat, Saiuj

AU - Aran, A.

AU - Daana, M.

AU - Da'amseh, N.

AU - Abu-Libdeh, B.

AU - Cowan, N.J. J.

AU - Heng, Julian I.T.

AU - Elpeleg, O.

PY - 2016

Y1 - 2016

U2 - 10.1093/hmg/ddw292

DO - 10.1093/hmg/ddw292

M3 - Article

C2 - 28158450

VL - 25

SP - 4635

EP - 4638

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

IS - 21

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