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; Minttu Marttila; Ulla Werlauff; Nathalie Streichenberger; Alan Pestronk; Ingrid Mazanti; Jason R. Pinner; Carole Vuillerot; Carla Grosmann; Ana Camacho; Payam Mohassel; Meganne E. Leach; A. Reghan Foley; Diana Bharucha-Goebel; James Collins; Anne M. Connolly; Heather R. Gilbreath; Susan T. Iannaccone; Diana Castro; Beryl B. Cummings; Richard I. Webster; Leila Lazaro; John Vissing; Sandra Coppens; Nicolas Deconinck; Ho-Ming Luk; Neil H. Thomas; Nicola C. Foulds; Marjorie A. Illingworth; Sian Ellard; Catriona A. McLean; Rahul Phadke; Gianina Ravenscroft; Nanna Witting; Peter Hackman; Isabelle Richard; Sandra T. Cooper; Erik-Jan Kamsteeg; Eric P. Hoffman; Kate Bushby; Volker Straub; Bjarne Udd; Ana Ferreiro; Kathryn N. North; Nigel F. Clarke; Monkol Lek; Alan H. Beggs; Carsten G. Boennemann; Daniel G. MacArthur; Henk Granzier; Mark R. Davis; Nigel G. Laing

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, Minttu Marttila, Ulla Werlauff, Nathalie Streichenberger, Alan Pestronk, Ingrid Mazanti, Jason R. Pinner, Carole Vuillerot, Carla Grosmann, Ana Camacho, Payam Mohassel, Meganne E. Leach, A. Reghan Foley, Diana Bharucha-Goebel, James Collins, Anne M. Connolly, Heather R. Gilbreath, Susan T. Iannaccone, Diana Castro, Beryl B. Cummings, Richard I. Webster, Leila Lazaro, John Vissing, Sandra Coppens, Nicolas Deconinck, Ho-Ming Luk, Neil H. Thomas, Nicola C. Foulds, Marjorie A. Illingworth, Sian Ellard, Catriona A. McLean, Rahul Phadke, Gianina Ravenscroft, Nanna Witting, Peter Hackman, Isabelle Richard, Sandra T. Cooper, Erik-Jan Kamsteeg, Eric P. Hoffman, Kate Bushby, Volker Straub, Bjarne Udd, Ana Ferreiro, Kathryn N. North, Nigel F. Clarke, Monkol Lek, Alan H. Beggs, Carsten G. Boennemann, Daniel G. MacArthur, Henk Granzier, Mark R. Davis, Nigel G. Laing

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Artikelnummer	29691892
Tidskrift	Annals of Neurology
Volym	83
Nummer	6
Sidor (från-till)	1105-1124
Antal sidor	20
ISSN	0364-5134
DOI	https://doi.org/10.1002/ana.25241 https://doi.org/10.1002/ana.25241
Status	Publicerad - juni 2018
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

3112 Neurovetenskaper
3124 Neurologi och psykiatri

Åtkomst av dokument

Citera det här

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., ... Laing, N. G. (2018). Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Annals of Neurology, 83(6), 1105-1124. [29691892]. https://doi.org/10.1002/ana.25241, https://doi.org/10.1002/ana.25241

@article{cfa5111fbd8f402f86e967627ef79fcd,

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

keywords = "EARLY RESPIRATORY-FAILURE, DILATED CARDIOMYOPATHY, CENTRONUCLEAR MYOPATHY, HEREDITARY MYOPATHY, MUSCULAR-DYSTROPHY, DISTAL MYOPATHY, TITIN ISOFORM, MUSCLE MRI, MUTATIONS, TTN, 3112 Neurosciences, 3124 Neurology and psychiatry",

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 Minttu Marttila and Ulla Werlauff and Nathalie Streichenberger and Alan Pestronk and Ingrid Mazanti and Pinner, {Jason R.} and Carole Vuillerot and Carla Grosmann and Ana Camacho and Payam Mohassel and Leach, {Meganne E.} and Foley, {A. Reghan} and Diana Bharucha-Goebel and James Collins and Connolly, {Anne M.} and Gilbreath, {Heather R.} and Iannaccone, {Susan T.} and Diana Castro and Cummings, {Beryl B.} and Webster, {Richard I.} and Leila Lazaro and John Vissing and Sandra Coppens and Nicolas Deconinck and Ho-Ming Luk and Thomas, {Neil H.} and Foulds, {Nicola C.} and Illingworth, {Marjorie A.} and Sian Ellard and McLean, {Catriona A.} and Rahul Phadke and Gianina Ravenscroft and Nanna Witting and Peter Hackman and Isabelle Richard and Cooper, {Sandra T.} and Erik-Jan Kamsteeg and Hoffman, {Eric P.} and Kate Bushby and Volker Straub and Bjarne Udd and Ana Ferreiro and North, {Kathryn N.} and Clarke, {Nigel F.} and Monkol Lek and Beggs, {Alan H.} and Boennemann, {Carsten G.} and MacArthur, {Daniel G.} and Henk Granzier and Davis, {Mark R.} and Laing, {Nigel G.}",

year = "2018",

month = jun,

doi = "10.1002/ana.25241",

language = "English",

volume = "83",

pages = "1105--1124",

journal = "Annals of Neurology",

issn = "0364-5134",

publisher = "Wiley",

number = "6",

}

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, Marttila, M, Werlauff, U, Streichenberger, N, Pestronk, A, Mazanti, I, Pinner, JR, Vuillerot, C, Grosmann, C, Camacho, A, Mohassel, P, Leach, ME, Foley, AR, Bharucha-Goebel, D, Collins, J, Connolly, AM, Gilbreath, HR, Iannaccone, ST, Castro, D, Cummings, BB, Webster, RI, Lazaro, L, Vissing, J, Coppens, S, Deconinck, N, Luk, H-M, Thomas, NH, Foulds, NC, Illingworth, MA, Ellard, S, McLean, CA, Phadke, R, Ravenscroft, G, Witting, N, Hackman, P, Richard, I, Cooper, ST, Kamsteeg, E-J, Hoffman, EP, Bushby, K, Straub, V, Udd, B, Ferreiro, A, North, KN, Clarke, NF, Lek, M, Beggs, AH, Boennemann, CG, MacArthur, DG, Granzier, H, Davis, MR & Laing, NG 2018, 'Congenital Titinopathy: Comprehensive characterization and pathogenic insights', Annals of Neurology, vol. 83, nr. 6, 29691892, s. 1105-1124. https://doi.org/10.1002/ana.25241, https://doi.org/10.1002/ana.25241

TY - JOUR

T1 - Congenital Titinopathy

T2 - 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 - Marttila, Minttu

AU - Werlauff, Ulla

AU - Streichenberger, Nathalie

AU - Pestronk, Alan

AU - Mazanti, Ingrid

AU - Pinner, Jason R.

AU - Vuillerot, Carole

AU - Grosmann, Carla

AU - Camacho, Ana

AU - Mohassel, Payam

AU - Leach, Meganne E.

AU - Foley, A. Reghan

AU - Bharucha-Goebel, Diana

AU - Collins, James

AU - Connolly, Anne M.

AU - Gilbreath, Heather R.

AU - Iannaccone, Susan T.

AU - Castro, Diana

AU - Cummings, Beryl B.

AU - Webster, Richard I.

AU - Lazaro, Leila

AU - Vissing, John

AU - Coppens, Sandra

AU - Deconinck, Nicolas

AU - Luk, Ho-Ming

AU - Thomas, Neil H.

AU - Foulds, Nicola C.

AU - Illingworth, Marjorie A.

AU - Ellard, Sian

AU - McLean, Catriona A.

AU - Phadke, Rahul

AU - Ravenscroft, Gianina

AU - Witting, Nanna

AU - Hackman, Peter

AU - Richard, Isabelle

AU - Cooper, Sandra T.

AU - Kamsteeg, Erik-Jan

AU - Hoffman, Eric P.

AU - Bushby, Kate

AU - Straub, Volker

AU - Udd, Bjarne

AU - Ferreiro, Ana

AU - North, Kathryn N.

AU - Clarke, Nigel F.

AU - Lek, Monkol

AU - Beggs, Alan H.

AU - Boennemann, Carsten G.

AU - MacArthur, Daniel G.

AU - Granzier, Henk

AU - Davis, Mark R.

AU - Laing, Nigel G.

PY - 2018/6

Y1 - 2018/6

KW - EARLY RESPIRATORY-FAILURE

KW - DILATED CARDIOMYOPATHY

KW - CENTRONUCLEAR MYOPATHY

KW - HEREDITARY MYOPATHY

KW - MUSCULAR-DYSTROPHY

KW - DISTAL MYOPATHY

KW - TITIN ISOFORM

KW - MUSCLE MRI

KW - MUTATIONS

KW - TTN

KW - 3112 Neurosciences

KW - 3124 Neurology and psychiatry

U2 - 10.1002/ana.25241

DO - 10.1002/ana.25241

M3 - Article

VL - 83

SP - 1105

EP - 1124

JO - Annals of Neurology

JF - Annals of Neurology

SN - 0364-5134

IS - 6

M1 - 29691892

ER -