Search Results - "Penttila, S"

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    Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families by Jonson, P. H., Palmio, J., Johari, M., Penttilä, S., Evilä, A., Nelson, I., Bonne, G., Wiart, N., Meyer, V., Boland, A., Deleuze, J.‐F., Masson, C., Stojkovic, T., Chapon, F., Romero, N. B., Solé, G., Ferrer, X., Ferreiro, A., Hackman, P., Richard, I., Udd, B.

    Published in European journal of neurology (01-05-2018)
    “…Background and purpose The aim was to determine the genetic background of unknown muscular dystrophy in five French families. Methods Twelve patients with limb…”
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    The implementation of a super mirror polarizer at the SNS fundamental neutron physics beamline by Balascuta, S., Alarcon, R., Baeβler, S., Greene, G., Mietke, A., Crawford, C., Milburn, R., Penttila, S., Prince, J., Schädler, J.

    “…A new bender supermirror polarizer is used to polarize the cold neutron beam at the Fundamental Neutron Physics Beamline at the Spallation Neutron Source. We…”
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    Effect of surface modification on the corrosion resistance of austenitic stainless steel 316L in supercritical water conditions by Penttilä, S., Toivonen, A., Li, J., Zheng, W., Novotny, R.

    Published in The Journal of supercritical fluids (01-09-2013)
    “…⿢General corrosion tests in SCW were carried out at 650°C/25MPa up to 3000h for four 316L tube samples with different surface finishes.⿢The corrosion behavior…”
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    The reproducibility of corrosion testing in supercritical water—Results of a second international interlaboratory comparison exercise by Edwards, M., Rousseau, S., Novotný, R., Gong, B., Fulger, M., Penttilä, S., Toivonen, A., Sàez-Maderuelo, A., Zhang, L., Guzonas, D., Huang, X.

    Published in Journal of nuclear materials (01-07-2022)
    “…•Unilateral sample preparation and control of oxygen did not reduce scatter.•Oxide deposition was observed in some facilities while others reported oxide…”
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    P.3.11 Atypical phenotypes in titinopathies explained by second titin mutations and compound heterozygosity by Evila, A, Vihola, A, Sarparanta, J, Raheem, O, Sandell, S, Eymard, B, Illa, I, Rojas-Garcia, R, Hankiewicz, K, Negrao, L, Lopponen, T, Nokelainen, P, Karppa, M, Penttila, S, Screen, M, Suominen, T, Richard, I, Hackman, P, Udd, B

    Published in Neuromuscular disorders : NMD (01-10-2013)
    “…Several patients with previously reported titin gene ( TTN ) mutations causing tibial muscular dystrophy (TMD) have more complex, severe or unusual phenotypes…”
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    Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5 by Penttilä, S, Palmio, J, Suominen, T, Raheem, O, Evilä, A, Muelas Gomez, N, Tasca, G, Waddell, L B, Clarke, N F, Barboi, A, Hackman, P, Udd, B

    Published in Neurology (20-03-2012)
    “…Description of 8 new ANO5 mutations and significant expansion of the clinical phenotype spectrum associated with previously known and unknown mutations to…”
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    Neutron-detected tomography of impurity-seeded superfluid helium by HAYDEN, M. E, ARCHIBALD, G, LEI, C, MAREK, L. J, PENG, J.-C, PENTTILA, S. I, BARNES, P. D, BUTTLER, W. T, CLARK, D. J, COOPER, M. D, ESPY, M, GOLUB, R, GREENE, G. L, LAMOREAUX, S. K

    Published in Physical review letters (03-09-2004)
    “…We describe a neutron radiography technique that can be used to map the distribution of 3He impurities in liquid 4He, providing direct and quantitative access…”
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    The reproducibility of corrosion testing in supercritical water—Results of an international interlaboratory comparison exercise by Guzonas, D., Penttilä, S., Cook, W., Zheng, W., Novotny, R., Sáez-Maderuelo, A., Kaneda, J.

    Published in Corrosion science (01-05-2016)
    “…•Round robin testing of corrosion (weight change) of three stainless steels in supercritical water.•Results show small scatter within the same laboratory but…”
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    Microstructure stability of candidate stainless steels for Gen-IV SCWR fuel cladding application by Li, Jian, Zheng, W., Penttilä, S., Liu, P., Woo, O.T., Guzonas, D.

    Published in Journal of nuclear materials (01-11-2014)
    “…In the past few years, significant progress has been made in materials selection for Gen-IV SCWR fuel cladding applications. Current studies indicate that…”
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