TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

Y. Lee; P.H. Jonson; J. Sarparanta; J. Palmio; M. Sarkar; A. Vihola; A. Evilä; T. Suominen; S. Penttilä; M. Savarese; M. Johari; M.-C. Minot; D. Hilton-Jones; P. Maddison; P. Chinnery; J. Reimann; C. Kornblum; T. Kraya; S. Zierz; C. Sue; H. Goebel; A. Azfer; S.H. Ralston; P. Hackman; R.C. Bucelli; J.P. Taylor; C.C. Weihl; B. Udd

doi:10.1172/jci97103

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

Y. Lee, P.H. Jonson, J. Sarparanta, J. Palmio, M. Sarkar, A. Vihola, A. Evilä, T. Suominen, S. Penttilä, M. Savarese, M. Johari, M.-C. Minot, D. Hilton-Jones, P. Maddison, P. Chinnery, J. Reimann, C. Kornblum, T. Kraya, S. Zierz, C. SueH. Goebel, A. Azfer, S.H. Ralston, P. Hackman, R.C. Bucelli, J.P. Taylor, C.C. Weihl, B. Udd

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78 Citations (Scopus)

Original language	English
Pages (from-to)	1164-1177
Journal	Journal of Clinical Investigation
Volume	128
Issue number	3
DOIs	https://doi.org/10.1172/jci97103
Publication status	Published - 2018
Publication type	A1 Journal article-refereed

Publication forum classification

Publication forum level 3

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10.1172/jci97103

Cite this

Lee, Y., Jonson, P. H., Sarparanta, J., Palmio, J., Sarkar, M., Vihola, A., Evilä, A., Suominen, T., Penttilä, S., Savarese, M., Johari, M., Minot, M.-C., Hilton-Jones, D., Maddison, P., Chinnery, P., Reimann, J., Kornblum, C., Kraya, T., Zierz, S., ... Udd, B. (2018). TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations. Journal of Clinical Investigation, 128(3), 1164-1177. https://doi.org/10.1172/jci97103

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title = "TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations",

author = "Y. Lee and P.H. Jonson and J. Sarparanta and J. Palmio and M. Sarkar and A. Vihola and A. Evil{\"a} and T. Suominen and S. Penttil{\"a} and M. Savarese and M. Johari and M.-C. Minot and D. Hilton-Jones and P. Maddison and P. Chinnery and J. Reimann and C. Kornblum and T. Kraya and S. Zierz and C. Sue and H. Goebel and A. Azfer and S.H. Ralston and P. Hackman and R.C. Bucelli and J.P. Taylor and C.C. Weihl and B. Udd",

year = "2018",

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Lee, Y, Jonson, PH, Sarparanta, J, Palmio, J, Sarkar, M, Vihola, A, Evilä, A, Suominen, T, Penttilä, S, Savarese, M, Johari, M, Minot, M-C, Hilton-Jones, D, Maddison, P, Chinnery, P, Reimann, J, Kornblum, C, Kraya, T, Zierz, S, Sue, C, Goebel, H, Azfer, A, Ralston, SH, Hackman, P, Bucelli, RC, Taylor, JP, Weihl, CC & Udd, B 2018, 'TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations', Journal of Clinical Investigation, vol. 128, no. 3, pp. 1164-1177. https://doi.org/10.1172/jci97103

TY - JOUR

T1 - TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

AU - Lee, Y.

AU - Jonson, P.H.

AU - Sarparanta, J.

AU - Palmio, J.

AU - Sarkar, M.

AU - Vihola, A.

AU - Evilä, A.

AU - Suominen, T.

AU - Penttilä, S.

AU - Savarese, M.

AU - Johari, M.

AU - Minot, M.-C.

AU - Hilton-Jones, D.

AU - Maddison, P.

AU - Chinnery, P.

AU - Reimann, J.

AU - Kornblum, C.

AU - Kraya, T.

AU - Zierz, S.

AU - Sue, C.

AU - Goebel, H.

AU - Azfer, A.

AU - Ralston, S.H.

AU - Hackman, P.

AU - Bucelli, R.C.

AU - Taylor, J.P.

AU - Weihl, C.C.

AU - Udd, B.

PY - 2018

Y1 - 2018

U2 - 10.1172/jci97103

DO - 10.1172/jci97103

M3 - Article

SN - 0021-9738

VL - 128

SP - 1164

EP - 1177

JO - Journal of Clinical Investigation

JF - Journal of Clinical Investigation

IS - 3

ER -