A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20

Melanie A Knight; Dena Hernandez; Scott J Diede; Hans G Dauwerse; Ian Rafferty; Joyce van de Leemput; Susan M Forrest; R J M Gardner; Elsdon Storey; Gert-Jan B van Ommen; Stephen J Tapscott; Kenneth H Fischbeck; Andrew B Singleton

doi:10.1093/hmg/ddn283.

A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20

Melanie A Knight, Dena Hernandez, Scott J Diede, Hans G Dauwerse, Ian Rafferty, Joyce van de Leemput, Susan M Forrest, R J M Gardner, Elsdon Storey, Gert-Jan B van Ommen, Stephen J Tapscott, Kenneth H Fischbeck, Andrew B Singleton

Department of Neuroscience

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

50 Citations (Scopus)

Original language	English
Pages (from-to)	3847 - 3853
Number of pages	7
Journal	Human Molecular Genetics
Volume	17
Issue number	24
DOIs	https://doi.org/10.1093/hmg/ddn283.
Publication status	Published - 2008

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Knight, M. A., Hernandez, D., Diede, S. J., Dauwerse, H. G., Rafferty, I., van de Leemput, J., Forrest, S. M., Gardner, R. J. M., Storey, E., van Ommen, G.-J. B., Tapscott, S. J., Fischbeck, K. H., & Singleton, A. B. (2008). A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20. Human Molecular Genetics, 17(24), 3847 - 3853. https://doi.org/10.1093/hmg/ddn283.

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title = "A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20",

author = "Knight, {Melanie A} and Dena Hernandez and Diede, {Scott J} and Dauwerse, {Hans G} and Ian Rafferty and {van de Leemput}, Joyce and Forrest, {Susan M} and Gardner, {R J M} and Elsdon Storey and {van Ommen}, {Gert-Jan B} and Tapscott, {Stephen J} and Fischbeck, {Kenneth H} and Singleton, {Andrew B}",

year = "2008",

doi = "10.1093/hmg/ddn283.",

language = "English",

volume = "17",

pages = "3847 -- 3853",

journal = "Human Molecular Genetics",

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publisher = "Oxford University Press",

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Knight, MA, Hernandez, D, Diede, SJ, Dauwerse, HG, Rafferty, I, van de Leemput, J, Forrest, SM, Gardner, RJM, Storey, E, van Ommen, G-JB, Tapscott, SJ, Fischbeck, KH & Singleton, AB 2008, 'A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20', Human Molecular Genetics, vol. 17, no. 24, pp. 3847 - 3853. https://doi.org/10.1093/hmg/ddn283.

TY - JOUR

T1 - A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20

AU - Knight, Melanie A

AU - Hernandez, Dena

AU - Diede, Scott J

AU - Dauwerse, Hans G

AU - Rafferty, Ian

AU - van de Leemput, Joyce

AU - Forrest, Susan M

AU - Gardner, R J M

AU - Storey, Elsdon

AU - van Ommen, Gert-Jan B

AU - Tapscott, Stephen J

AU - Fischbeck, Kenneth H

AU - Singleton, Andrew B

PY - 2008

Y1 - 2008

UR - http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2588641

U2 - 10.1093/hmg/ddn283.

DO - 10.1093/hmg/ddn283.

M3 - Article

SN - 0964-6906

VL - 17

SP - 3847

EP - 3853

JO - Human Molecular Genetics

JF - Human Molecular Genetics

IS - 24

ER -

A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20

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