Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

M. Yuen; S.A. Sandaradura; J.J. Dowling; A.S. Kostyukova; N. Moroz; K.G. Quinlan; V.L. Lehtokari; G. Ravenscroft; E.J. Todd; O. Ceyhan-Birsoy; D.S. Gokhin; J. Maluenda; M. Lek; F. Nolent; C.T. Pappas; S.M. Novak; A. D'Amico; E. Malfatti; B.P. Thomas; S.B. Gabriel; N. Gupta; M. J. Daly; B. Ilkovski; P.J. Houweling; A.E. Davidson; L.C. Swanson; C.A. Brownstein; V.A. Gupta; L. Medne; P. Shannon; N. Martin; D.P. Bick; A. Flisberg; E. Holmberg; P. van den Bergh; P. Lapunzina; L.B. Waddell; D.D. Sioboda; E. Bertini; D. Chitayat; W.R. Telfer; A. Laquerriere; C.C. Gregorio; C.A.C. Ottenheijm; c.g. Bonnemann; K. Pelin; A.H. Beggs; Y.K. Hayashi; N.B. Romero; N.G. Laing; I. Nishino; C. Wallgren-Pettersson; J. Melki; V.M. Fowler; D.G. MacArthur; K.N. North; N.F. Clarke

doi:10.1172/JCI75199

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

M. Yuen, S.A. Sandaradura, J.J. Dowling, A.S. Kostyukova, N. Moroz, K.G. Quinlan, V.L. Lehtokari, G. Ravenscroft, E.J. Todd, O. Ceyhan-Birsoy, D.S. Gokhin, J. Maluenda, M. Lek, F. Nolent, C.T. Pappas, S.M. Novak, A. D'Amico, E. Malfatti, B.P. Thomas, S.B. GabrielN. Gupta, M. J. Daly, B. Ilkovski, P.J. Houweling, A.E. Davidson, L.C. Swanson, C.A. Brownstein, V.A. Gupta, L. Medne, P. Shannon, N. Martin, D.P. Bick, A. Flisberg, E. Holmberg, P. van den Bergh, P. Lapunzina, L.B. Waddell, D.D. Sioboda, E. Bertini, D. Chitayat, W.R. Telfer, A. Laquerriere, C.C. Gregorio, C.A.C. Ottenheijm, c.g. Bonnemann, K. Pelin, A.H. Beggs, Y.K. Hayashi, N.B. Romero, N.G. Laing, I. Nishino, C. Wallgren-Pettersson, J. Melki, V.M. Fowler, D.G. MacArthur, K.N. North, N.F. Clarke

Physiology

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

Original language	Undefined/Unknown
Pages (from-to)	4693-4708
Journal	Journal of Clinical Investigation
Volume	124
Issue number	11
DOIs	https://doi.org/10.1172/JCI75199
Publication status	Published - 2014

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10.1172/JCI75199

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Yuen, M., Sandaradura, S. A., Dowling, J. J., Kostyukova, A. S., Moroz, N., Quinlan, K. G., Lehtokari, V. L., Ravenscroft, G., Todd, E. J., Ceyhan-Birsoy, O., Gokhin, D. S., Maluenda, J., Lek, M., Nolent, F., Pappas, C. T., Novak, S. M., D'Amico, A., Malfatti, E., Thomas, B. P., ... Clarke, N. F. (2014). Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. Journal of Clinical Investigation, 124(11), 4693-4708. https://doi.org/10.1172/JCI75199

@article{3c042b022e92439885b45ec89870e352,

title = "Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy",

author = "M. Yuen and S.A. Sandaradura and J.J. Dowling and A.S. Kostyukova and N. Moroz and K.G. Quinlan and V.L. Lehtokari and G. Ravenscroft and E.J. Todd and O. Ceyhan-Birsoy and D.S. Gokhin and J. Maluenda and M. Lek and F. Nolent and C.T. Pappas and S.M. Novak and A. D'Amico and E. Malfatti and B.P. Thomas and S.B. Gabriel and N. Gupta and Daly, {M. J.} and B. Ilkovski and P.J. Houweling and A.E. Davidson and L.C. Swanson and C.A. Brownstein and V.A. Gupta and L. Medne and P. Shannon and N. Martin and D.P. Bick and A. Flisberg and E. Holmberg and {van den Bergh}, P. and P. Lapunzina and L.B. Waddell and D.D. Sioboda and E. Bertini and D. Chitayat and W.R. Telfer and A. Laquerriere and C.C. Gregorio and C.A.C. Ottenheijm and c.g. Bonnemann and K. Pelin and A.H. Beggs and Y.K. Hayashi and N.B. Romero and N.G. Laing and I. Nishino and C. Wallgren-Pettersson and J. Melki and V.M. Fowler and D.G. MacArthur and K.N. North and N.F. Clarke",

year = "2014",

doi = "10.1172/JCI75199",

language = "Undefined/Unknown",

volume = "124",

pages = "4693--4708",

journal = "Journal of Clinical Investigation",

issn = "0021-9738",

publisher = "The American Society for Clinical Investigation",

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Yuen, M, Sandaradura, SA, Dowling, JJ, Kostyukova, AS, Moroz, N, Quinlan, KG, Lehtokari, VL, Ravenscroft, G, Todd, EJ, Ceyhan-Birsoy, O, Gokhin, DS, Maluenda, J, Lek, M, Nolent, F, Pappas, CT, Novak, SM, D'Amico, A, Malfatti, E, Thomas, BP, Gabriel, SB, Gupta, N, Daly, MJ, Ilkovski, B, Houweling, PJ, Davidson, AE, Swanson, LC, Brownstein, CA, Gupta, VA, Medne, L, Shannon, P, Martin, N, Bick, DP, Flisberg, A, Holmberg, E, van den Bergh, P, Lapunzina, P, Waddell, LB, Sioboda, DD, Bertini, E, Chitayat, D, Telfer, WR, Laquerriere, A, Gregorio, CC, Ottenheijm, CAC, Bonnemann, CG, Pelin, K, Beggs, AH, Hayashi, YK, Romero, NB, Laing, NG, Nishino, I, Wallgren-Pettersson, C, Melki, J, Fowler, VM, MacArthur, DG, North, KN & Clarke, NF 2014, 'Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy', Journal of Clinical Investigation, vol. 124, no. 11, pp. 4693-4708. https://doi.org/10.1172/JCI75199

TY - JOUR

T1 - Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

AU - Yuen, M.

AU - Sandaradura, S.A.

AU - Dowling, J.J.

AU - Kostyukova, A.S.

AU - Moroz, N.

AU - Quinlan, K.G.

AU - Lehtokari, V.L.

AU - Ravenscroft, G.

AU - Todd, E.J.

AU - Ceyhan-Birsoy, O.

AU - Gokhin, D.S.

AU - Maluenda, J.

AU - Lek, M.

AU - Nolent, F.

AU - Pappas, C.T.

AU - Novak, S.M.

AU - D'Amico, A.

AU - Malfatti, E.

AU - Thomas, B.P.

AU - Gabriel, S.B.

AU - Gupta, N.

AU - Daly, M. J.

AU - Ilkovski, B.

AU - Houweling, P.J.

AU - Davidson, A.E.

AU - Swanson, L.C.

AU - Brownstein, C.A.

AU - Gupta, V.A.

AU - Medne, L.

AU - Shannon, P.

AU - Martin, N.

AU - Bick, D.P.

AU - Flisberg, A.

AU - Holmberg, E.

AU - van den Bergh, P.

AU - Lapunzina, P.

AU - Waddell, L.B.

AU - Sioboda, D.D.

AU - Bertini, E.

AU - Chitayat, D.

AU - Telfer, W.R.

AU - Laquerriere, A.

AU - Gregorio, C.C.

AU - Ottenheijm, C.A.C.

AU - Bonnemann, c.g.

AU - Pelin, K.

AU - Beggs, A.H.

AU - Hayashi, Y.K.

AU - Romero, N.B.

AU - Laing, N.G.

AU - Nishino, I.

AU - Wallgren-Pettersson, C.

AU - Melki, J.

AU - Fowler, V.M.

AU - MacArthur, D.G.

AU - North, K.N.

AU - Clarke, N.F.

PY - 2014

Y1 - 2014

U2 - 10.1172/JCI75199

DO - 10.1172/JCI75199

M3 - Article

C2 - 25250574

VL - 124

SP - 4693

EP - 4708

JO - Journal of Clinical Investigation

JF - Journal of Clinical Investigation

SN - 0021-9738

IS - 11

ER -