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Items: 47

1.

A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy.

Jokela M, Lehtinen S, Palmio J, Saukkonen AM, Huovinen S, Vihola A, Udd B.

J Neurol. 2019 Jul;266(7):1649-1654. doi: 10.1007/s00415-019-09307-y. Epub 2019 Apr 8.

2.

An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy.

Jokela M, Tasca G, Vihola A, Mercuri E, Jonson PH, Lehtinen S, Välipakka S, Pane M, Donati M, Johari M, Savarese M, Huovinen S, Isohanni P, Palmio J, Hartikainen P, Udd B.

Neurology. 2019 Apr 2;92(14):e1600-e1609. doi: 10.1212/WNL.0000000000007246. Epub 2019 Mar 6.

PMID:
30842289
3.

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.

Neuromuscul Disord. 2019 Feb;29(2):97-107. doi: 10.1016/j.nmd.2018.12.007. Epub 2018 Dec 20.

PMID:
30679003
4.

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.

Sainio MT, Välipakka S, Rinaldi B, Lapatto H, Paetau A, Ojanen S, Brilhante V, Jokela M, Huovinen S, Auranen M, Palmio J, Friant S, Ylikallio E, Udd B, Tyynismaa H.

J Neurol. 2019 Feb;266(2):353-360. doi: 10.1007/s00415-018-9137-8. Epub 2018 Dec 4.

5.

Homozygous Nonsense Mutation p.Q274X in TRIM63 (MuRF1) in a Patient with Mild Skeletal Myopathy and Cardiac Hypertrophy.

Jokela M, Baumann P, Huovinen S, Penttilä S, Udd B.

J Neuromuscul Dis. 2019;6(1):143-146. doi: 10.3233/JND-180350.

PMID:
30372688
6.

The complexity of titin splicing pattern in human adult skeletal muscles.

Savarese M, Jonson PH, Huovinen S, Paulin L, Auvinen P, Udd B, Hackman P.

Skelet Muscle. 2018 Mar 29;8(1):11. doi: 10.1186/s13395-018-0156-z.

7.

Gluteus maximus hypertrophy: A diagnostic clue in four and a half LIM domain 1-mutated reducing body myopathy.

Jokela M, Huovinen S, Palmio J, Saukkonen AM, Penttilä S, Udd B.

Neuromuscul Disord. 2017 Oct;27(10):962-963. doi: 10.1016/j.nmd.2017.06.014. Epub 2017 Jun 23. No abstract available.

PMID:
28694073
8.

Cranioplasty with Adipose-Derived Stem Cells, Beta-Tricalcium Phosphate Granules and Supporting Mesh: Six-Year Clinical Follow-Up Results.

Thesleff T, Lehtimäki K, Niskakangas T, Huovinen S, Mannerström B, Miettinen S, Seppänen-Kaijansinkko R, Öhman J.

Stem Cells Transl Med. 2017 Jul;6(7):1576-1582. doi: 10.1002/sctm.16-0410. Epub 2017 May 15.

9.

PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry.

Auranen M, Palmio J, Ylikallio E, Huovinen S, Paetau A, Sandell S, Haapasalo H, Viitaniemi K, Piirilä P, Tyynismaa H, Udd B.

Neurol Genet. 2015 Jun 4;1(1):e7. doi: 10.1212/NXG.0000000000000007. eCollection 2015 Jun.

10.

Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders.

Jokela M, Huovinen S, Raheem O, Lindfors M, Palmio J, Penttilä S, Udd B.

PLoS One. 2016 Mar 21;11(3):e0151376. doi: 10.1371/journal.pone.0151376. eCollection 2016.

11.

Myxoinflammatory fibroblastic sarcoma of the nose: First reported case at an unusual location (nasal dorsum), with a review of the literature.

Numminen J, Bizaki A, Kujansivu J, Huovinen S, Rautiainen M.

Ear Nose Throat J. 2016 Mar;95(3):E32-5. Review.

PMID:
26991227
12.

Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D.

Sandell S, Huovinen S, Palmio J, Raheem O, Lindfors M, Zhao F, Haapasalo H, Udd B.

Acta Neuropathol Commun. 2016 Feb 5;4:9. doi: 10.1186/s40478-016-0276-9.

13.

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

Ghaoui R, Palmio J, Brewer J, Lek M, Needham M, Evilä A, Hackman P, Jonson PH, Penttilä S, Vihola A, Huovinen S, Lindfors M, Davis RL, Waddell L, Kaur S, Yiannikas C, North K, Clarke N, MacArthur DG, Sue CM, Udd B.

Neurology. 2016 Jan 26;86(4):391-8. doi: 10.1212/WNL.0000000000002324. Epub 2015 Dec 30. Erratum in: Neurology. 2016 Mar 15;86(11):1077.

14.

Differential isoform expression and selective muscle involvement in muscular dystrophies.

Huovinen S, Penttilä S, Somervuo P, Keto J, Auvinen P, Vihola A, Huovinen S, Pelin K, Raheem O, Salenius J, Suominen T, Hackman P, Udd B.

Am J Pathol. 2015 Oct;185(10):2833-42. doi: 10.1016/j.ajpath.2015.06.018. Epub 2015 Aug 9.

PMID:
26269091
15.

Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family.

Palmio J, Evilä A, Bashir A, Norwood F, Viitaniemi K, Vihola A, Huovinen S, Straub V, Hackman P, Hirano M, Bushby K, Udd B.

J Neurol Neurosurg Psychiatry. 2016 Apr;87(4):448-50. doi: 10.1136/jnnp-2014-309349. Epub 2015 May 7. No abstract available.

PMID:
25952333
16.

No cardiomyopathy in X-linked myopathy with excessive autophagy.

Saraste A, Koskenvuo JW, Airaksinen J, Ramachandran N, Munteanu I, Udd B, Huovinen S, Kalimo H, Minassian BA.

Neuromuscul Disord. 2015 Jun;25(6):485-7. doi: 10.1016/j.nmd.2015.03.003. Epub 2015 Mar 17.

PMID:
25845477
17.

Length of prostate biopsies is not necessarily compromised by pooling multiple cores in one paraffin block: an observational study.

Tolonen TT, Isola J, Kaipia A, Riikonen J, Koivusalo L, Huovinen S, Laurila M, Porre S, Tirkkonen M, Kujala P.

BMC Clin Pathol. 2015 Mar 8;15:4. doi: 10.1186/s12907-015-0001-9. eCollection 2015.

18.

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.

PLoS One. 2014 Mar 11;9(3):e90819. doi: 10.1371/journal.pone.0090819. eCollection 2014.

19.

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.

Neuromuscul Disord. 2014 Mar;24(3):259-68. doi: 10.1016/j.nmd.2013.11.010. Epub 2013 Nov 26.

PMID:
24360573
20.

An unusual phenotype of late-onset desminopathy.

Palmio J, Penttilä S, Huovinen S, Haapasalo H, Udd B.

Neuromuscul Disord. 2013 Nov;23(11):922-3. doi: 10.1016/j.nmd.2013.06.374. Epub 2013 Jul 30. No abstract available.

PMID:
23911073
21.

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.

Muscle Nerve. 2012 Nov;46(5):730-7. doi: 10.1002/mus.23380. Epub 2012 Aug 31.

PMID:
22941678
22.

Diazoxide may protect endothelial glycocalyx integrity during coronary artery bypass grafting.

Mennander AA, Shalaby A, Oksala N, Leppänen T, Hämäläinen M, Huovinen S, Zhao F, Moilanen E, Tarkka M.

Scand Cardiovasc J. 2012 Dec;46(6):339-44. doi: 10.3109/14017431.2012.717303. Epub 2012 Aug 31.

PMID:
22845420
23.

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.

Nat Genet. 2012 Feb 26;44(4):450-5, S1-2. doi: 10.1038/ng.1103.

24.

Late-onset lower motor neuronopathy: a new autosomal dominant disorder.

Jokela M, Penttilä S, Huovinen S, Hackman P, Saukkonen AM, Toivanen J, Udd B.

Neurology. 2011 Jul 26;77(4):334-40. doi: 10.1212/WNL.0b013e3182267b71. Epub 2011 Jun 29.

PMID:
21715705
25.

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.

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

PMID:
21684747
26.

Pediatric Cushing's disease due to pituitary hyperplasia.

Mustila T, Keskinen P, Terho M, Huovinen S, Saha MT.

J Pediatr Endocrinol Metab. 2011;24(3-4):191-2. No abstract available.

PMID:
21648290
27.

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.

Neuromuscul Disord. 2011 May;21(5):338-44. doi: 10.1016/j.nmd.2011.02.008. Epub 2011 Mar 3.

PMID:
21376592
28.

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.

J Neurol Neurosurg Psychiatry. 2010 Aug;81(8):834-9. doi: 10.1136/jnnp.2009.192351.

PMID:
20682716
29.

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.

J Neurol Neurosurg Psychiatry. 2010 Nov;81(11):1200-2. doi: 10.1136/jnnp.2009.178434. Epub 2010 Jun 22.

PMID:
20571043
30.

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.

Acta Neuropathol. 2010 Apr;119(4):495-500. doi: 10.1007/s00401-010-0643-8. Epub 2010 Jan 28.

PMID:
20107819
31.

Peptic ulcer and Helicobacter pylori in patients with lichen planus.

Vainio E, Huovinen S, Liutu M, Uksila J, Leino R.

Acta Derm Venereol. 2000 Nov-Dec;80(6):427-9.

32.

Human onychomycosis caused by Trichophyton equinum transmitted from a racehorse.

Huovinen S, Tunnela E, Huovinen P, Kuijpers AF, Suhonen R.

Br J Dermatol. 1998 Jun;138(6):1082-4.

PMID:
9747381
33.

Increase of antimicrobial resistance of faecal aerobic gram-negative bacteria in a geriatric hospital.

Leistevuo T, Osterblad M, Toivonen P, Kuistila M, Huovinen S, Heikkilä E, Kahra A, Lehtonen A, Huovinen P.

Age Ageing. 1996 May;25(3):197-200.

PMID:
8670551
34.

Epidemiology of the colonization of inpatients and outpatients with ciprofloxacin-resistant coagulase-negative staphylococci.

Kotilainen P, Huovinen S, Järvinen H, Aro H, Huovinen P.

Clin Infect Dis. 1995 Sep;21(3):685-7.

PMID:
8527571
35.

Comparison of ciprofloxacin or trimethoprim therapy for venous leg ulcers: results of a pilot study.

Huovinen S, Kotilainen P, Järvinen H, Malanin K, Sarna S, Helander I, Huovinen P.

J Am Acad Dermatol. 1994 Aug;31(2 Pt 1):279-81. No abstract available.

PMID:
8040418
36.

Positive correlation between the age of patients and the degree of antimicrobial resistance among urinary strains of Escherichia coli.

Arstila T, Huovinen S, Lager K, Lehtonen A, Huovinen P.

J Infect. 1994 Jul;29(1):9-16.

PMID:
7963641
37.

Fine-needle aspiration biopsy, curettage, and swab samples in bacteriologic analysis of leg ulcers.

Huovinen S, Malanin G, Helander I, Järvinen H, Huovinen P.

Arch Dermatol. 1992 Jun;128(6):856-7. No abstract available.

PMID:
1599284
38.

Resistance to erythromycin in group A streptococci.

Seppälä H, Nissinen A, Järvinen H, Huovinen S, Henriksson T, Herva E, Holm SE, Jahkola M, Katila ML, Klaukka T, et al.

N Engl J Med. 1992 Jan 30;326(5):292-7.

39.

Analysis of beta-lactamase production in ampicillin-resistant Escherichia coli isolated from blood cultures 1983-1989.

Arstila T, Huovinen S, Huovinen P.

Eur J Clin Microbiol Infect Dis. 1991 Dec;10(12):1068-70.

PMID:
1802699
40.

Problems in interpretation of piperacillin susceptibility of TEM-1 producing Escherichia coli in the disk diffusion test.

Arstila T, Huovinen S, Huovinen P.

Eur J Clin Microbiol Infect Dis. 1991 Dec;10(12):1066-7.

PMID:
1802698
41.

Plasmid-mediated beta-lactamases among aminoglycoside resistant gram-negative bacilli.

Huovinen S, Klossner ML, Katila ML, Huovinen P.

Scand J Infect Dis. 1989;21(3):303-9.

PMID:
2667097
42.
43.

Evaluation of plasmid-encoded beta-lactamase resistance in Escherichia coli blood culture isolates.

Huovinen S, Huovinen P, Torniainen K, Jacoby GA.

Eur J Clin Microbiol Infect Dis. 1988 Oct;7(5):651-5.

PMID:
3143575
45.

Detection of plasmid-mediated beta-lactamases with DNA probes.

Huovinen S, Huovinén P, Jacoby GA.

Antimicrob Agents Chemother. 1988 Feb;32(2):175-9.

46.

Sequence of PSE-2 beta-lactamase.

Huovinen P, Huovinen S, Jacoby GA.

Antimicrob Agents Chemother. 1988 Jan;32(1):134-6.

47.

Emergence of trimethoprim resistance in fecal flora.

Huovinen P, Mattila T, Kiminki O, Pulkkinen L, Huovinen S, Koskela M, Sunila R, Toivanen P.

Antimicrob Agents Chemother. 1985 Aug;28(2):354-6.

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