Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

Haicui Wang; Claire G. Salter; Osama Refai; Holly Hardy; Katy E.S. Barwick; Ugur Akpulat; Malin Kvarnung; Barry A. Chioza; Gaurav Harlalka; Fulya Taylan; Thomas Sejersen; Jane Wright; Holly H. Zimmerman; Mert Karakaya; Burkhardt Stüve; Joachim Weis; Ulrike Schara; Mark A. Russell; Omar A. Abdul-Rahman; John Chilton; Randy D. Blakely; Emma L. Baple; Sebahattin Cirak; Andrew H. Crosby

doi:10.1093/brain/awx249

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

Haicui Wang, Claire G. Salter, Osama Refai, Holly Hardy, Katy E.S. Barwick, Ugur Akpulat, Malin Kvarnung, Barry A. Chioza, Gaurav Harlalka, Fulya Taylan, Thomas Sejersen, Jane Wright, Holly H. Zimmerman, Mert Karakaya, Burkhardt Stüve, Joachim Weis, Ulrike Schara, Mark A. Russell, Omar A. Abdul-Rahman, John ChiltonRandy D. Blakely, Emma L. Baple, Sebahattin Cirak^*, Andrew H. Crosby

^*Corresponding author for this work

Peninsula Medical School

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

Original language	English
Pages (from-to)	2838-2850
Number of pages	0
Journal	Brain
Volume	140
Issue number	11
Early online date	27 Oct 2017
DOIs	https://doi.org/10.1093/brain/awx249
Publication status	Published - 1 Nov 2017

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10.1093/brain/awx249

Cite this

Wang, H., Salter, C. G., Refai, O., Hardy, H., Barwick, K. E. S., Akpulat, U., Kvarnung, M., Chioza, B. A., Harlalka, G., Taylan, F., Sejersen, T., Wright, J., Zimmerman, H. H., Karakaya, M., Stüve, B., Weis, J., Schara, U., Russell, M. A., Abdul-Rahman, O. A., ... Crosby, A. H. (2017). Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization. Brain, 140(11), 2838-2850. https://doi.org/10.1093/brain/awx249

@article{3734132c278d4ffeb3f4e42a74b6c954,

title = "Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization",

author = "Haicui Wang and Salter, {Claire G.} and Osama Refai and Holly Hardy and Barwick, {Katy E.S.} and Ugur Akpulat and Malin Kvarnung and Chioza, {Barry A.} and Gaurav Harlalka and Fulya Taylan and Thomas Sejersen and Jane Wright and Zimmerman, {Holly H.} and Mert Karakaya and Burkhardt St{\"u}ve and Joachim Weis and Ulrike Schara and Russell, {Mark A.} and Abdul-Rahman, {Omar A.} and John Chilton and Blakely, {Randy D.} and Baple, {Emma L.} and Sebahattin Cirak and Crosby, {Andrew H.}",

year = "2017",

month = nov,

day = "1",

doi = "10.1093/brain/awx249",

language = "English",

volume = "140",

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journal = "Brain",

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Wang, H, Salter, CG, Refai, O, Hardy, H, Barwick, KES, Akpulat, U, Kvarnung, M, Chioza, BA, Harlalka, G, Taylan, F, Sejersen, T, Wright, J, Zimmerman, HH, Karakaya, M, Stüve, B, Weis, J, Schara, U, Russell, MA, Abdul-Rahman, OA, Chilton, J, Blakely, RD, Baple, EL, Cirak, S & Crosby, AH 2017, 'Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization', Brain, vol. 140, no. 11, pp. 2838-2850. https://doi.org/10.1093/brain/awx249

TY - JOUR

T1 - Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

AU - Wang, Haicui

AU - Salter, Claire G.

AU - Refai, Osama

AU - Hardy, Holly

AU - Barwick, Katy E.S.

AU - Akpulat, Ugur

AU - Kvarnung, Malin

AU - Chioza, Barry A.

AU - Harlalka, Gaurav

AU - Taylan, Fulya

AU - Sejersen, Thomas

AU - Wright, Jane

AU - Zimmerman, Holly H.

AU - Karakaya, Mert

AU - Stüve, Burkhardt

AU - Weis, Joachim

AU - Schara, Ulrike

AU - Russell, Mark A.

AU - Abdul-Rahman, Omar A.

AU - Chilton, John

AU - Blakely, Randy D.

AU - Baple, Emma L.

AU - Cirak, Sebahattin

AU - Crosby, Andrew H.

PY - 2017/11/1

Y1 - 2017/11/1

U2 - 10.1093/brain/awx249

DO - 10.1093/brain/awx249

M3 - Article

SN - 0006-8950

VL - 140

SP - 2838

EP - 2850

JO - Brain

JF - Brain

IS - 11

ER -