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F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle-specific chloride channel CLC-1.
Muscle Nerve. 2008 Mar;37(3):317-25. doi: 10.1002/mus.20922.
Muscle Nerve. 2008.
PMID: 17990293
Regulated sarcolemmal localization of the muscle-specific ClC-1 chloride channel.
Papponen H, Kaisto T, Myllylä VV, Myllylä R, Metsikkö K.
Papponen H, et al.
Exp Neurol. 2005 Jan;191(1):163-73. doi: 10.1016/j.expneurol.2004.07.018.
Exp Neurol. 2005.
PMID: 15589523
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Microdomains of endoplasmic reticulum within the sarcoplasmic reticulum of skeletal myofibers.
Kaakinen M, Papponen H, Metsikkö K.
Kaakinen M, et al. Among authors: papponen h.
Exp Cell Res. 2008 Jan 15;314(2):237-45. doi: 10.1016/j.yexcr.2007.10.009. Epub 2007 Oct 22.
Exp Cell Res. 2008.
PMID: 17999928
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Evidence for gamma-actin as a Z disc component in skeletal myofibers.
Papponen H, Kaisto T, Leinonen S, Kaakinen M, Metsikkö K.
Papponen H, et al.
Exp Cell Res. 2009 Jan 15;315(2):218-25. doi: 10.1016/j.yexcr.2008.10.021. Epub 2008 Oct 31.
Exp Cell Res. 2009.
PMID: 19013151
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Founder mutations and the high prevalence of myotonia congenita in northern Finland.
Papponen H, Toppinen T, Baumann P, Myllylä V, Leisti J, Kuivaniemi H, Tromp G, Myllylä R.
Papponen H, et al.
Neurology. 1999 Jul 22;53(2):297-302. doi: 10.1212/wnl.53.2.297.
Neurology. 1999.
PMID: 10430417
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Cloning and characterization of a novel human lysyl hydroxylase isoform highly expressed in pancreas and muscle.
Valtavaara M, Papponen H, Pirttilä AM, Hiltunen K, Helander H, Myllylä R.
Valtavaara M, et al. Among authors: papponen h.
J Biol Chem. 1997 Mar 14;272(11):6831-4. doi: 10.1074/jbc.272.11.6831.
J Biol Chem. 1997.
PMID: 9054364
Free article.
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A call for action: Improve reporting of research studies to increase the scientific basis for regulatory decision-making.
Ågerstrand M, Christiansen S, Hanberg A, Rudén C, Andersson L, Andersen S, Appelgren H, Bjørge C, Clausen IH, Eide DM, Hartmann NB, Husøy T, Halldórsson HP, van der Hagen M, Ingre-Khans E, Lillicrap AD, Beltoft VM, Mörk AK, Murtomaa-Hautala M, Nielsen E, Ólafsdóttir K, Palomäki J, Papponen H, Reiler EM, Stockmann-Juvala H, Suutari T, Tyle H, Beronius A.
Ågerstrand M, et al. Among authors: papponen h.
J Appl Toxicol. 2018 May;38(5):783-785. doi: 10.1002/jat.3578. Epub 2018 Jan 3.
J Appl Toxicol. 2018.
PMID: 29297199
Free PMC article.
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