SYT1-associated neurodevelopmental disorder: A case series

Kate Baker; Sarah L. Gordon; Holly Melland; Fabian Bumbak; Daniel J. Scott; Tess J. Jiang; David Owen; Bradley J. Turner; Stewart G. Boyd; Mari Rossi; Mohammed Al-Raqad; Orly Elpeleg; Dawn Peck; Grazia M.S. Mancini; Martina Wilke; Marcella Zollino; Giuseppe Marangi; Heike Weigand; Ingo Borggraefe; Tobias Haack; Zornitza Stark; Simon Sadedin; Mendelian Genomics; Tiong Yang Tan; Yunyun Jiang; Richard A. Gibbs; Sara Ellingwood; Michelle Amaral; Whitley Kelley; Manju A. Kurian; Michael A. Cousin; F. Lucy Raymond

doi:10.1093/brain/awy209

SYT1-associated neurodevelopmental disorder: A case series

Kate Baker, Sarah L. Gordon, Holly Melland, Fabian Bumbak, Daniel J. Scott, Tess J. Jiang, David Owen, Bradley J. Turner, Stewart G. Boyd, Mari Rossi, Mohammed Al-Raqad, Orly Elpeleg, Dawn Peck, Grazia M.S. Mancini, Martina Wilke, Marcella Zollino, Giuseppe Marangi, Heike Weigand, Ingo Borggraefe, Tobias HaackZornitza Stark, Simon Sadedin, Mendelian Genomics, Tiong Yang Tan, Yunyun Jiang, Richard A. Gibbs, Sara Ellingwood, Michelle Amaral, Whitley Kelley, Manju A. Kurian, Michael A. Cousin, F. Lucy Raymond

科研成果: 期刊稿件 › 文章 › 同行评审

91 引用（Scopus）

源语言	英语
页（从-至）	2576-2591
页数	16
期刊	Brain
卷	141
期	9
DOI	https://doi.org/10.1093/brain/awy209
出版状态	已出版 - 9月 1 2018
已对外发布	是

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临床神经病学

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Baker, K., Gordon, S. L., Melland, H., Bumbak, F., Scott, D. J., Jiang, T. J., Owen, D., Turner, B. J., Boyd, S. G., Rossi, M., Al-Raqad, M., Elpeleg, O., Peck, D., Mancini, G. M. S., Wilke, M., Zollino, M., Marangi, G., Weigand, H., Borggraefe, I., ... Raymond, F. L. (2018). SYT1-associated neurodevelopmental disorder: A case series. Brain, 141(9), 2576-2591. https://doi.org/10.1093/brain/awy209

Baker, K, Gordon, SL, Melland, H, Bumbak, F, Scott, DJ, Jiang, TJ, Owen, D, Turner, BJ, Boyd, SG, Rossi, M, Al-Raqad, M, Elpeleg, O, Peck, D, Mancini, GMS, Wilke, M, Zollino, M, Marangi, G, Weigand, H, Borggraefe, I, Haack, T, Stark, Z, Sadedin, S, Genomics, M, Tan, TY, Jiang, Y, Gibbs, RA, Ellingwood, S, Amaral, M, Kelley, W, Kurian, MA, Cousin, MA & Raymond, FL 2018, 'SYT1-associated neurodevelopmental disorder: A case series', Brain, 卷 141, 号码 9, 页码 2576-2591. https://doi.org/10.1093/brain/awy209

@article{4dc506ed919d4ee6942842363a77f16e,

title = "SYT1-associated neurodevelopmental disorder: A case series",

keywords = "SYT1, intellectual disability, movement disorder, synaptic vesicle, synaptotagmin 1",

author = "Kate Baker and Gordon, {Sarah L.} and Holly Melland and Fabian Bumbak and Scott, {Daniel J.} and Jiang, {Tess J.} and David Owen and Turner, {Bradley J.} and Boyd, {Stewart G.} and Mari Rossi and Mohammed Al-Raqad and Orly Elpeleg and Dawn Peck and Mancini, {Grazia M.S.} and Martina Wilke and Marcella Zollino and Giuseppe Marangi and Heike Weigand and Ingo Borggraefe and Tobias Haack and Zornitza Stark and Simon Sadedin and Mendelian Genomics and Tan, {Tiong Yang} and Yunyun Jiang and Gibbs, {Richard A.} and Sara Ellingwood and Michelle Amaral and Whitley Kelley and Kurian, {Manju A.} and Cousin, {Michael A.} and Raymond, {F. Lucy}",

note = "Publisher Copyright: {\textcopyright} The Author(s) (2018).",

year = "2018",

month = sep,

day = "1",

doi = "10.1093/brain/awy209",

language = "English",

volume = "141",

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journal = "Brain",

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TY - JOUR

T1 - SYT1-associated neurodevelopmental disorder

T2 - A case series

AU - Baker, Kate

AU - Gordon, Sarah L.

AU - Melland, Holly

AU - Bumbak, Fabian

AU - Scott, Daniel J.

AU - Jiang, Tess J.

AU - Owen, David

AU - Turner, Bradley J.

AU - Boyd, Stewart G.

AU - Rossi, Mari

AU - Al-Raqad, Mohammed

AU - Elpeleg, Orly

AU - Peck, Dawn

AU - Mancini, Grazia M.S.

AU - Wilke, Martina

AU - Zollino, Marcella

AU - Marangi, Giuseppe

AU - Weigand, Heike

AU - Borggraefe, Ingo

AU - Haack, Tobias

AU - Stark, Zornitza

AU - Sadedin, Simon

AU - Genomics, Mendelian

AU - Tan, Tiong Yang

AU - Jiang, Yunyun

AU - Gibbs, Richard A.

AU - Ellingwood, Sara

AU - Amaral, Michelle

AU - Kelley, Whitley

AU - Kurian, Manju A.

AU - Cousin, Michael A.

AU - Raymond, F. Lucy

PY - 2018/9/1

Y1 - 2018/9/1

KW - SYT1

KW - intellectual disability

KW - movement disorder

KW - synaptic vesicle

KW - synaptotagmin 1

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M3 - Article

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AN - SCOPUS:85058731148

SN - 0006-8950

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SP - 2576

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JO - Brain

JF - Brain

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SYT1-associated neurodevelopmental disorder: A case series

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