Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

K. Neveling; L.A. Martinez-Carrera; I. Holker; A. Heister; A. Verrips; S.M. Hosseini-Barkooie; C. Gilissen; S. Vermeer; M.T. Pennings; R. Meijer; M. te Riele; C.J.M. Frijns; X et al; H Scheffer

Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

Translated title of the contribution: Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

K. Neveling, L.A. Martinez-Carrera, I. Holker, A. Heister, A. Verrips, S.M. Hosseini-Barkooie, C. Gilissen, S. Vermeer, M.T. Pennings, R. Meijer, M. te Riele, C.J.M. Frijns, X et al, H Scheffer

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

Translated title of the contribution	Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy
Original language	Undefined/Unknown
Pages (from-to)	946-954
Number of pages	9
Journal	American Journal of Human Genetics
Volume	92
Issue number	6
Publication status	Published - 2013

Keywords

Econometric and Statistical Methods: General
Geneeskunde (GENK)
Geneeskunde(GENK)
Medical sciences
Bescherming en bevordering van de menselijke gezondheid

Access to Document

http://www.ncbi.nlm.nih.gov/pubmed/23664116

Cite this

Neveling, K., Martinez-Carrera, L. A., Holker, I., Heister, A., Verrips, A., Hosseini-Barkooie, S. M., Gilissen, C., Vermeer, S., Pennings, M. T., Meijer, R., te Riele, M., Frijns, C. J. M., et al, X., & Scheffer, H. (2013). Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy. American Journal of Human Genetics, 92(6), 946-954. http://www.ncbi.nlm.nih.gov/pubmed/23664116

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keywords = "Econometric and Statistical Methods: General, Geneeskunde (GENK), Geneeskunde(GENK), Medical sciences, Bescherming en bevordering van de menselijke gezondheid",

author = "K. Neveling and L.A. Martinez-Carrera and I. Holker and A. Heister and A. Verrips and S.M. Hosseini-Barkooie and C. Gilissen and S. Vermeer and M.T. Pennings and R. Meijer and {te Riele}, M. and C.J.M. Frijns and {et al}, X and H Scheffer",

year = "2013",

language = "Undefined/Unknown",

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journal = "American Journal of Human Genetics",

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Neveling, K, Martinez-Carrera, LA, Holker, I, Heister, A, Verrips, A, Hosseini-Barkooie, SM, Gilissen, C, Vermeer, S, Pennings, MT, Meijer, R, te Riele, M, Frijns, CJM, et al, X & Scheffer, H 2013, 'Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy', American Journal of Human Genetics, vol. 92, no. 6, pp. 946-954. <http://www.ncbi.nlm.nih.gov/pubmed/23664116>

TY - JOUR

T1 - Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

AU - Neveling, K.

AU - Martinez-Carrera, L.A.

AU - Holker, I.

AU - Heister, A.

AU - Verrips, A.

AU - Hosseini-Barkooie, S.M.

AU - Gilissen, C.

AU - Vermeer, S.

AU - Pennings, M.T.

AU - Meijer, R.

AU - te Riele, M.

AU - Frijns, C.J.M.

AU - et al, X

AU - Scheffer, H

PY - 2013

Y1 - 2013

KW - Econometric and Statistical Methods: General

KW - Geneeskunde (GENK)

KW - Geneeskunde(GENK)

KW - Medical sciences

KW - Bescherming en bevordering van de menselijke gezondheid

M3 - Article

SN - 0002-9297

VL - 92

SP - 946

EP - 954

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 6

ER -