Congenital titinopathy: Comprehensive characterization and pathogenic insights

Authors

Emily C. Oates, University of Sydney, Australia
Alan Pestronk, Washington University School of Medicine in St. Louis
Anne M. Connolly, Washington University School of Medicine in St. Louis
et al

Journal

Annals of Neurology

Publication Date

2018

Volume

83

Issue

6

First Page

1105

Last Page

1124

Document Type

Open Access Publication

DOI

10.1002/ana.25241

Rights and Permissions

Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, 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, Töpf 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 HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG. Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Ann Neurol. 2018 Jun;83(6):1105-1124. doi:10.1002/ana.25241. © 2018 The Authors. Annals of Neurology published by Wiley Periodicals, Inc. on behalf of American Neurological Association. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Recommended Citation

Oates, Emily C.; Pestronk, Alan; Connolly, Anne M.; and et al, "Congenital titinopathy: Comprehensive characterization and pathogenic insights." Annals of Neurology. 83, 6. 1105 - 1124. (2018).
https://digitalcommons.wustl.edu/open_access_pubs/8355