Suominen T - Search Results

1

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

2

Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.

Muelas N, Hackman P, Luque H, Suominen T, Espinós C, Garcés-Sánchez M, Sevilla T, Azorín I, Millán JM, Udd B, Vílchez JJ. Muelas N, et al. Among authors: suominen t. Clin Genet. 2012 May;81(5):491-4. doi: 10.1111/j.1399-0004.2011.01667.x. Epub 2011 Apr 11. Clin Genet. 2012. PMID: 21395566

3

A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient.

Dubourg O, Maisonobe T, Behin A, Suominen T, Raheem O, Penttilä S, Parton M, Eymard B, Dahl A, Udd B. Dubourg O, et al. Among authors: suominen t. J Neurol. 2011 Jun;258(6):1157-63. doi: 10.1007/s00415-011-5900-9. Epub 2011 Jan 30. J Neurol. 2011. PMID: 21279644

4

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.

5

Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family.

Palmio J, Sandell S, Suominen T, Penttilä S, Raheem O, Hackman P, Huovinen S, Haapasalo H, Udd B. Palmio J, et al. Among authors: suominen t. Neuromuscul Disord. 2011 Aug;21(8):551-5. doi: 10.1016/j.nmd.2011.05.008. Neuromuscul Disord. 2011. PMID: 21684747

6

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.

Pollazzon M, Suominen T, Penttilä S, Malandrini A, Carluccio MA, Mondelli M, Marozza A, Federico A, Renieri A, Hackman P, Dotti MT, Udd B. Pollazzon M, et al. Among authors: suominen t. J Neurol. 2010 Apr;257(4):575-9. doi: 10.1007/s00415-009-5372-3. Epub 2009 Nov 13. J Neurol. 2010. PMID: 19911250

7

Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype.

Pénisson-Besnier I, Hackman P, Suominen T, Sarparanta J, Huovinen S, Richard-Crémieux I, Udd B. Pénisson-Besnier I, et al. Among authors: suominen t. J Neurol Neurosurg Psychiatry. 2010 Nov;81(11):1200-2. doi: 10.1136/jnnp.2009.178434. Epub 2010 Jun 22. J Neurol Neurosurg Psychiatry. 2010. PMID: 20571043

8

Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.

Penttilä S, Palmio J, Suominen T, Raheem O, Evilä A, Muelas Gomez N, Tasca G, Waddell LB, Clarke NF, Barboi A, Hackman P, Udd B. Penttilä S, et al. Among authors: suominen t. Neurology. 2012 Mar 20;78(12):897-903. doi: 10.1212/WNL.0b013e31824c4682. Epub 2012 Mar 7. Neurology. 2012. PMID: 22402862

9

Atypical phenotypes in titinopathies explained by second titin mutations.

Evilä A, Vihola A, Sarparanta J, Raheem O, Palmio J, Sandell S, Eymard B, Illa I, Rojas-Garcia R, Hankiewicz K, Negrão L, Löppönen T, Nokelainen P, Kärppä M, Penttilä S, Screen M, Suominen T, Richard I, Hackman P, Udd B. Evilä A, et al. Among authors: suominen t. Ann Neurol. 2014 Feb;75(2):230-40. doi: 10.1002/ana.24102. Epub 2014 Feb 24. Ann Neurol. 2014. PMID: 24395473

10

Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy.

Rudolf G, Suominen T, Penttilä S, Hackman P, Evilä A, Lannes B, Echaniz-Laguna A, Bierry G, Tranchant C, Udd B. Rudolf G, et al. Among authors: suominen t. J Neuromuscul Dis. 2016 May 27;3(2):275-281. doi: 10.3233/JND-150143. J Neuromuscul Dis. 2016. PMID: 27854214

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