A De Novo Mutation in the beta-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

C. Simons; N.I. Wolf; N. McNeil; L. Caldovic; J.M. Devaney; A. Takanohashi; J. Crawford; K.L. Ru; S.M. Grimmond; D. Miller; D. Tonduti; J.L. Schmidt; R.S. Chudnow; R. van Coster; L. Lagae; J. Kisler; J. Sperner; M.S. van der Knaap; R. Schiffmann; R.J. Taft; A. Vanderver

doi:10.1016/j.ajhg.2013.03.018

A De Novo Mutation in the beta-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

C. Simons, N.I. Wolf, N. McNeil, L. Caldovic, J.M. Devaney, A. Takanohashi, J. Crawford, K.L. Ru, S.M. Grimmond, D. Miller, D. Tonduti, J.L. Schmidt, R.S. Chudnow, R. van Coster, L. Lagae, J. Kisler, J. Sperner, M.S. van der Knaap, R. Schiffmann, R.J. TaftA. Vanderver

Pediatric surgery

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

Original language	Undefined/Unknown
Pages (from-to)	767-773
Journal	American journal of human genetics
Volume	92
Issue number	5
DOIs	https://doi.org/10.1016/j.ajhg.2013.03.018
Publication status	Published - 2013

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10.1016/j.ajhg.2013.03.018

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Simons, C., Wolf, N. I., McNeil, N., Caldovic, L., Devaney, J. M., Takanohashi, A., Crawford, J., Ru, K. L., Grimmond, S. M., Miller, D., Tonduti, D., Schmidt, J. L., Chudnow, R. S., van Coster, R., Lagae, L., Kisler, J., Sperner, J., van der Knaap, M. S., Schiffmann, R., ... Vanderver, A. (2013). A De Novo Mutation in the beta-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum. American journal of human genetics, 92(5), 767-773. https://doi.org/10.1016/j.ajhg.2013.03.018

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title = "A De Novo Mutation in the beta-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum",

author = "C. Simons and N.I. Wolf and N. McNeil and L. Caldovic and J.M. Devaney and A. Takanohashi and J. Crawford and K.L. Ru and S.M. Grimmond and D. Miller and D. Tonduti and J.L. Schmidt and R.S. Chudnow and {van Coster}, R. and L. Lagae and J. Kisler and J. Sperner and {van der Knaap}, M.S. and R. Schiffmann and R.J. Taft and A. Vanderver",

year = "2013",

doi = "10.1016/j.ajhg.2013.03.018",

language = "Undefined/Unknown",

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pages = "767--773",

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Simons, C, Wolf, NI, McNeil, N, Caldovic, L, Devaney, JM, Takanohashi, A, Crawford, J, Ru, KL, Grimmond, SM, Miller, D, Tonduti, D, Schmidt, JL, Chudnow, RS, van Coster, R, Lagae, L, Kisler, J, Sperner, J, van der Knaap, MS, Schiffmann, R, Taft, RJ & Vanderver, A 2013, 'A De Novo Mutation in the beta-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum', American journal of human genetics, vol. 92, no. 5, pp. 767-773. https://doi.org/10.1016/j.ajhg.2013.03.018

TY - JOUR

T1 - A De Novo Mutation in the beta-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

AU - Simons, C.

AU - Wolf, N.I.

AU - McNeil, N.

AU - Caldovic, L.

AU - Devaney, J.M.

AU - Takanohashi, A.

AU - Crawford, J.

AU - Ru, K.L.

AU - Grimmond, S.M.

AU - Miller, D.

AU - Tonduti, D.

AU - Schmidt, J.L.

AU - Chudnow, R.S.

AU - van Coster, R.

AU - Lagae, L.

AU - Kisler, J.

AU - Sperner, J.

AU - van der Knaap, M.S.

AU - Schiffmann, R.

AU - Taft, R.J.

AU - Vanderver, A.

PY - 2013

Y1 - 2013

U2 - 10.1016/j.ajhg.2013.03.018

DO - 10.1016/j.ajhg.2013.03.018

M3 - Article

C2 - 23582646

VL - 92

SP - 767

EP - 773

JO - American journal of human genetics

JF - American journal of human genetics

SN - 0002-9297

IS - 5

ER -