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Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, Gooding R, Jungbluth H, Muelas N, Palmio J, Penttilä S, Schmedding E, Suominen T, Straub V, Staples C, Van den Bergh PY, Vilchez JJ, Wagner KR, Wheeler PG, Wraige E, Laing NG. Lamont PJ, et al. Among authors: suominen t. Hum Mutat. 2014 Jul;35(7):868-79. doi: 10.1002/humu.22553. Epub 2014 May 21. Hum Mutat. 2014. PMID: 24664454 Free PMC article.
MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy.
Muelas N, Hackman P, Luque H, Garcés-Sánchez M, Azorín I, Suominen T, Sevilla T, Mayordomo F, Gómez L, Martí P, María Millán J, Udd B, Vílchez JJ. Muelas N, et al. Among authors: suominen t. Neurology. 2010 Aug 24;75(8):732-41. doi: 10.1212/WNL.0b013e3181eee4d5. Neurology. 2010. PMID: 20733148
Distal myopathies in Finnish patients.
Palmio J, Jokela M, Sandell S, Suominen T, Penttilä S, Udd B. Palmio J, et al. Among authors: suominen t. Duodecim. 2016;132(18):1635-44. Duodecim. 2016. PMID: 29188941 Review.
Camptocormia as presenting sign in myofibrillar myopathy.
Renard D, Castelnovo G, Fernandez C, De Paula AM, Penttilä S, Suominen T, Udd B. Renard D, et al. Among authors: suominen t. Neuromuscul Disord. 2012 Nov;22(11):987-9. doi: 10.1016/j.nmd.2012.06.004. Epub 2012 Jun 28. Neuromuscul Disord. 2012. PMID: 22749474
TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.
Lee Y, Jonson PH, Sarparanta J, Palmio J, Sarkar M, Vihola A, Evilä A, Suominen T, Penttilä S, Savarese M, Johari M, Minot MC, 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. Lee Y, et al. Among authors: suominen t. J Clin Invest. 2018 Mar 1;128(3):1164-1177. doi: 10.1172/JCI97103. Epub 2018 Feb 19. J Clin Invest. 2018. PMID: 29457785 Free PMC article.
213 results