Evilä A - Search Results

1

Targeted next-generation sequencing assay for detection of mutations in primary myopathies.

Evilä A, Arumilli M, Udd B, Hackman P. Evilä A, et al. Neuromuscul Disord. 2016 Jan;26(1):7-15. doi: 10.1016/j.nmd.2015.10.003. Epub 2015 Nov 25. Neuromuscul Disord. 2016. PMID: 26627873

2

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene.

Kiiski KJ, Lehtokari VL, Vihola AK, Laitila JM, Huovinen S, Sagath LJ, Evilä AE, Paetau AE, Sewry CA, Hackman PB, Pelin KB, Wallgren-Pettersson C, Udd B. Kiiski KJ, et al. Among authors: evila ae. Neuromuscul Disord. 2019 Feb;29(2):97-107. doi: 10.1016/j.nmd.2018.12.007. Epub 2018 Dec 20. Neuromuscul Disord. 2019. PMID: 30679003

3

Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy 2L.

Tasca G, Evilä A, Pane M, Monforte M, Graziano A, Hackman P, Mercuri E, Udd B. Tasca G, et al. Among authors: evila a. Neuromuscul Disord. 2014 Dec;24(12):1118-9. doi: 10.1016/j.nmd.2014.06.442. Epub 2014 Jul 9. Neuromuscul Disord. 2014. PMID: 25149668 No abstract available.

4

Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease.

Palmio J, Jonson PH, Evilä A, Auranen M, Straub V, Bushby K, Sarkozy A, Kiuru-Enari S, Sandell S, Pihko H, Hackman P, Udd B. Palmio J, et al. Among authors: evila a. Neuromuscul Disord. 2015 Nov;25(11):835-42. doi: 10.1016/j.nmd.2015.07.014. Epub 2015 Jul 27. Neuromuscul Disord. 2015. PMID: 26338452

5

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.

Evilä A, Palmio J, Vihola A, Savarese M, Tasca G, Penttilä S, Lehtinen S, Jonson PH, De Bleecker J, Rainer P, Auer-Grumbach M, Pouget J, Salort-Campana E, Vilchez JJ, Muelas N, Olive M, Hackman P, Udd B. Evilä A, et al. Mol Neurobiol. 2017 Nov;54(9):7212-7223. doi: 10.1007/s12035-016-0242-3. Epub 2016 Oct 29. Mol Neurobiol. 2017. PMID: 27796757

6

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: evila a. J Neuromuscul Dis. 2016 May 27;3(2):275-281. doi: 10.3233/JND-150143. J Neuromuscul Dis. 2016. PMID: 27854214

7

A 'second truncation' in TTN causes early onset recessive muscular dystrophy.

Harris E, Töpf A, Vihola A, Evilä A, Barresi R, Hudson J, Hackman P, Herron B, MacArthur D, Lochmüller H, Bushby K, Udd B, Straub V. Harris E, et al. Among authors: evila a. Neuromuscul Disord. 2017 Nov;27(11):1009-1017. doi: 10.1016/j.nmd.2017.06.013. Epub 2017 Jun 22. Neuromuscul Disord. 2017. PMID: 28716623

8

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1.

Hackman P, Sarparanta J, Lehtinen S, Vihola A, Evilä A, Jonson PH, Luque H, Kere J, Screen M, Chinnery PF, Åhlberg G, Edström L, Udd B. Hackman P, et al. Among authors: evila a. Ann Neurol. 2013 Apr;73(4):500-9. doi: 10.1002/ana.23831. Epub 2013 Feb 11. Ann Neurol. 2013. PMID: 23401021

9

Hereditary myopathy with early respiratory failure: occurrence in various populations.

Palmio J, Evilä A, Chapon F, Tasca G, Xiang F, Brådvik B, Eymard B, Echaniz-Laguna A, Laporte J, Kärppä M, Mahjneh I, Quinlivan R, Laforêt P, Damian M, Berardo A, Taratuto AL, Bueri JA, Tommiska J, Raivio T, Tuerk M, Gölitz P, Chevessier F, Sewry C, Norwood F, Hedberg C, Schröder R, Edström L, Oldfors A, Hackman P, Udd B. Palmio J, et al. Among authors: evila a. J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):345-53. doi: 10.1136/jnnp-2013-304965. Epub 2013 Apr 19. J Neurol Neurosurg Psychiatry. 2014. PMID: 23606733

10

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. Ann Neurol. 2014 Feb;75(2):230-40. doi: 10.1002/ana.24102. Epub 2014 Feb 24. Ann Neurol. 2014. PMID: 24395473

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