Huovinen SP - Search Results

1

Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness.

Savarese M, Vihola A, Jokela ME, Huovinen SP, Gerevini S, Torella A, Johari M, Scarlato M, Jonson PH, Onore ME, Hackman P, Gautel M, Nigro V, Previtali SC, Udd B. Savarese M, et al. Among authors: huovinen sp. Neurol Genet. 2021 Aug 10;7(5):e619. doi: 10.1212/NXG.0000000000000619. eCollection 2021 Oct. Neurol Genet. 2021. PMID: 34386585 Free PMC article.

2

Novel myosin heavy chain immunohistochemical double staining developed for the routine diagnostic separation of I, IIA and IIX fibers.

Raheem O, Huovinen S, Suominen T, Haapasalo H, Udd B. Raheem O, et al. Acta Neuropathol. 2010 Apr;119(4):495-500. doi: 10.1007/s00401-010-0643-8. Epub 2010 Jan 28. Acta Neuropathol. 2010. PMID: 20107819

3

The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy.

Sandell S, Huovinen S, Sarparanta J, Luque H, Raheem O, Haapasalo H, Hackman P, Udd B. Sandell S, et al. J Neurol Neurosurg Psychiatry. 2010 Aug;81(8):834-9. doi: 10.1136/jnnp.2009.192351. J Neurol Neurosurg Psychiatry. 2010. PMID: 20682716

4

Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus.

Hackman P, Sandell S, Sarparanta J, Luque H, Huovinen S, Palmio J, Paetau A, Kalimo H, Mahjneh I, Udd B. Hackman P, et al. Neuromuscul Disord. 2011 May;21(5):338-44. doi: 10.1016/j.nmd.2011.02.008. Epub 2011 Mar 3. Neuromuscul Disord. 2011. PMID: 21376592

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. Neuromuscul Disord. 2011 Aug;21(8):551-5. doi: 10.1016/j.nmd.2011.05.008. Neuromuscul Disord. 2011. PMID: 21684747

6

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.

Sarparanta J, Jonson PH, Golzio C, Sandell S, Luque H, Screen M, McDonald K, Stajich JM, Mahjneh I, Vihola A, Raheem O, Penttilä S, Lehtinen S, Huovinen S, Palmio J, Tasca G, Ricci E, Hackman P, Hauser M, Katsanis N, Udd B. Sarparanta J, et al. Nat Genet. 2012 Feb 26;44(4):450-5, S1-2. doi: 10.1038/ng.1103. Nat Genet. 2012. PMID: 22366786 Free PMC article.

7

Expression of multiple nebulin isoforms in human skeletal muscle and brain.

Laitila J, Hanif M, Paetau A, Hujanen S, Keto J, Somervuo P, Huovinen S, Udd B, Wallgren-Pettersson C, Auvinen P, Hackman P, Pelin K. Laitila J, et al. Muscle Nerve. 2012 Nov;46(5):730-7. doi: 10.1002/mus.23380. Epub 2012 Aug 31. Muscle Nerve. 2012. PMID: 22941678

8

An unusual phenotype of late-onset desminopathy.

Palmio J, Penttilä S, Huovinen S, Haapasalo H, Udd B. Palmio J, et al. Neuromuscul Disord. 2013 Nov;23(11):922-3. doi: 10.1016/j.nmd.2013.06.374. Epub 2013 Jul 30. Neuromuscul Disord. 2013. PMID: 23911073 No abstract available.

9

Late-onset spinal motor neuronopathy - a common form of dominant SMA.

Penttilä S, Jokela M, Huovinen S, Saukkonen AM, Toivanen J, Lindberg C, Baumann P, Udd B. Penttilä S, et al. Neuromuscul Disord. 2014 Mar;24(3):259-68. doi: 10.1016/j.nmd.2013.11.010. Epub 2013 Nov 26. Neuromuscul Disord. 2014. PMID: 24360573

10

Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy.

Screen M, Raheem O, Holmlund-Hampf J, Jonson PH, Huovinen S, Hackman P, Udd B. Screen M, et al. PLoS One. 2014 Mar 11;9(3):e90819. doi: 10.1371/journal.pone.0090819. eCollection 2014. PLoS One. 2014. PMID: 24618559 Free PMC article.

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