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Year Number of Results
1985 1
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1996 1
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53 results

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Page 1
Sequence of PSE-2 beta-lactamase.
Huovinen P, Huovinen S, Jacoby GA. Huovinen P, et al. Among authors: huovinen s. Antimicrob Agents Chemother. 1988 Jan;32(1):134-6. doi: 10.1128/AAC.32.1.134. Antimicrob Agents Chemother. 1988. PMID: 3126705 Free PMC article.
A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.
Lehtokari VL, Sagath L, Davis M, Ho D, Kiiski K, Kettunen K, Demczko M, Stein R, Vatta M, Winder TL, Shohet A, Orenstein N, Krcho P, Bohuš P, Huovinen S, Udd B, Pelin K, Laing NG, Wallgren-Pettersson C. Lehtokari VL, et al. Among authors: huovinen s. Neuromuscul Disord. 2024 Jan;34:32-40. doi: 10.1016/j.nmd.2023.11.009. Epub 2023 Nov 30. Neuromuscul Disord. 2024. PMID: 38142473 Free article.
An unusual phenotype of late-onset desminopathy.
Palmio J, Penttilä S, Huovinen S, Haapasalo H, Udd B. Palmio J, et al. Among authors: huovinen s. 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.
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. Sainio MT, et al. Among authors: huovinen s. J Neurol. 2019 Feb;266(2):353-360. doi: 10.1007/s00415-018-9137-8. Epub 2018 Dec 4. J Neurol. 2019. PMID: 30515627 Free PMC article.
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.
Johari M, Sarparanta J, Vihola A, Jonson PH, Savarese M, Jokela M, Torella A, Piluso G, Said E, Vella N, Cauchi M, Magot A, Magri F, Mauri E, Kornblum C, Reimann J, Stojkovic T, Romero NB, Luque H, Huovinen S, Lahermo P, Donner K, Comi GP, Nigro V, Hackman P, Udd B. Johari M, et al. Among authors: huovinen s. Acta Neuropathol. 2021 Aug;142(2):375-393. doi: 10.1007/s00401-021-02319-x. Epub 2021 May 11. Acta Neuropathol. 2021. PMID: 33974137 Free PMC article.
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. Saraste A, et al. Among authors: huovinen s. Neuromuscul Disord. 2015 Jun;25(6):485-7. doi: 10.1016/j.nmd.2015.03.003. Epub 2015 Mar 17. Neuromuscul Disord. 2015. PMID: 25845477
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. Jokela M, et al. Among authors: huovinen s. Neurology. 2019 Apr 2;92(14):e1600-e1609. doi: 10.1212/WNL.0000000000007246. Epub 2019 Mar 6. Neurology. 2019. PMID: 30842289 Free article.
Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D.
Sandell S, Huovinen S, Palmio J, Raheem O, Lindfors M, Zhao F, Haapasalo H, Udd B. Sandell S, et al. Among authors: huovinen s. Acta Neuropathol Commun. 2016 Feb 5;4:9. doi: 10.1186/s40478-016-0276-9. Acta Neuropathol Commun. 2016. PMID: 26847086 Free PMC article.
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy.
Ranu N, Laitila J, Dugdale HF, Mariano J, Kolb JS, Wallgren-Pettersson C, Witting N, Vissing J, Vilchez JJ, Fiorillo C, Zanoteli E, Auranen M, Jokela M, Tasca G, Claeys KG, Voermans NC, Palmio J, Huovinen S, Moggio M, Beck TN, Kontrogianni-Konstantopoulos A, Granzier H, Ochala J. Ranu N, et al. Among authors: huovinen s. Acta Neuropathol Commun. 2022 Dec 17;10(1):185. doi: 10.1186/s40478-022-01491-9. Acta Neuropathol Commun. 2022. PMID: 36528760 Free PMC article.
53 results