Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Emily C Oates; Kristi J Jones; Sandra Donkervoort; Amanda Charlton; Susan Brammah; John E Smith; James S Ware; Kyle S Yau; Lindsay C Swanson; Nicola Whiffin; Anthony J Peduto; Adam Bournazos; Leigh B Waddell; Michelle A Farrar; Hugo A Sampaio; Hooi Ling Teoh; Phillipa J Lamont; David Mowat; Robin B Fitzsimons; Alastair J Corbett; Monique M Ryan; Gina L O'Grady; Sarah A Sandaradura; Roula Ghaoui; Himanshu Joshi; Jamie L Marshall; Melinda A Nolan; Simranpreet Kaur; Jaya Punetha; Ana Toepf; Elizabeth Harris; Madhura Bakshi; Casie A Genetti; Bjarne Udd

doi:10.1002/ana.25241

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Emily C Oates, Kristi J Jones, Sandra Donkervoort, Amanda Charlton, Susan Brammah, John E Smith, James S Ware, Kyle S Yau, Lindsay C Swanson, Nicola Whiffin, Anthony J Peduto, Adam Bournazos, Leigh B Waddell, Michelle A Farrar, Hugo A Sampaio, Hooi Ling Teoh, Phillipa J Lamont, David Mowat, Robin B Fitzsimons, Alastair J CorbettMonique M Ryan, Gina L O'Grady, Sarah A Sandaradura, Roula Ghaoui, Himanshu Joshi, Jamie L Marshall, Melinda A Nolan, Simranpreet Kaur, Jaya Punetha, Ana Toepf, Elizabeth Harris, Madhura Bakshi, Casie A Genetti, Bjarne Udd

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

94 Citations (Scopus)

Original language	English
Pages (from-to)	1105-1124
Journal	ANNALS OF NEUROLOGY
Volume	83
Issue number	6
DOIs	https://doi.org/10.1002/ana.25241
Publication status	Published - 2018
Publication type	A1 Journal article-refereed

Publication forum classification

Publication forum level 3

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10.1002/ana.25241

Cite this

Oates, E. C., Jones, K. J., Donkervoort, S., Charlton, A., Brammah, S., Smith, J. E., Ware, J. S., Yau, K. S., Swanson, L. C., Whiffin, N., Peduto, A. J., Bournazos, A., Waddell, L. B., Farrar, M. A., Sampaio, H. A., Teoh, H. L., Lamont, P. J., Mowat, D., Fitzsimons, R. B., ... Udd, B. (2018). Congenital Titinopathy: Comprehensive characterization and pathogenic insights. ANNALS OF NEUROLOGY, 83(6), 1105-1124. https://doi.org/10.1002/ana.25241

@article{e4de3aecd6d14754a98d35302e94f547,

title = "Congenital Titinopathy: Comprehensive characterization and pathogenic insights",

author = "Oates, {Emily C} and Jones, {Kristi J} and Sandra Donkervoort and Amanda Charlton and Susan Brammah and Smith, {John E} and Ware, {James S} and Yau, {Kyle S} and Swanson, {Lindsay C} and Nicola Whiffin and Peduto, {Anthony J} and Adam Bournazos and Waddell, {Leigh B} and Farrar, {Michelle A} and Sampaio, {Hugo A} and Teoh, {Hooi Ling} and Lamont, {Phillipa J} and David Mowat and Fitzsimons, {Robin B} and Corbett, {Alastair J} and Ryan, {Monique M} and O'Grady, {Gina L} and Sandaradura, {Sarah A} and Roula Ghaoui and Himanshu Joshi and Marshall, {Jamie L} and Nolan, {Melinda A} and Simranpreet Kaur and Jaya Punetha and Ana Toepf and Elizabeth Harris and Madhura Bakshi and Genetti, {Casie A} and Bjarne Udd",

year = "2018",

doi = "10.1002/ana.25241",

language = "English",

volume = "83",

pages = "1105--1124",

journal = "ANNALS OF NEUROLOGY",

issn = "0364-5134",

publisher = "Wiley",

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}

Oates, EC, Jones, KJ, Donkervoort, S, Charlton, A, Brammah, S, Smith, JE, Ware, JS, Yau, KS, Swanson, LC, Whiffin, N, Peduto, AJ, Bournazos, A, Waddell, LB, Farrar, MA, Sampaio, HA, Teoh, HL, Lamont, PJ, Mowat, D, Fitzsimons, RB, Corbett, AJ, Ryan, MM, O'Grady, GL, Sandaradura, SA, Ghaoui, R, Joshi, H, Marshall, JL, Nolan, MA, Kaur, S, Punetha, J, Toepf, A, Harris, E, Bakshi, M, Genetti, CA & Udd, B 2018, 'Congenital Titinopathy: Comprehensive characterization and pathogenic insights', ANNALS OF NEUROLOGY, vol. 83, no. 6, pp. 1105-1124. https://doi.org/10.1002/ana.25241

TY - JOUR

T1 - Congenital Titinopathy: Comprehensive characterization and pathogenic insights

AU - Oates, Emily C

AU - Jones, Kristi J

AU - Donkervoort, Sandra

AU - Charlton, Amanda

AU - Brammah, Susan

AU - Smith, John E

AU - Ware, James S

AU - Yau, Kyle S

AU - Swanson, Lindsay C

AU - Whiffin, Nicola

AU - Peduto, Anthony J

AU - Bournazos, Adam

AU - Waddell, Leigh B

AU - Farrar, Michelle A

AU - Sampaio, Hugo A

AU - Teoh, Hooi Ling

AU - Lamont, Phillipa J

AU - Mowat, David

AU - Fitzsimons, Robin B

AU - Corbett, Alastair J

AU - Ryan, Monique M

AU - O'Grady, Gina L

AU - Sandaradura, Sarah A

AU - Ghaoui, Roula

AU - Joshi, Himanshu

AU - Marshall, Jamie L

AU - Nolan, Melinda A

AU - Kaur, Simranpreet

AU - Punetha, Jaya

AU - Toepf, Ana

AU - Harris, Elizabeth

AU - Bakshi, Madhura

AU - Genetti, Casie A

AU - Udd, Bjarne

PY - 2018

Y1 - 2018

U2 - 10.1002/ana.25241

DO - 10.1002/ana.25241

M3 - Article

SN - 0364-5134

VL - 83

SP - 1105

EP - 1124

JO - ANNALS OF NEUROLOGY

JF - ANNALS OF NEUROLOGY

IS - 6

ER -