Search Results - "Penttilae, S."

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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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    Journal Article
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    Diagnostic anoctamin‐5 protein defect in patients with ANO5‐mutated muscular dystrophy by Vihola, A., Luque, H., Savarese, M., Penttilä, S., Lindfors, M., Leturcq, F., Eymard, B., Tasca, G., Brais, B., Conte, T., Charton, K., Richard, I., Udd, B.

    Published in Neuropathology and applied neurobiology (01-08-2018)
    “…Aims Previously, detection of ANO5 protein has been complicated by unspecific antibodies, most of which have not identified the correct protein. The aims of…”
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    Journal Article
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    Stress corrosion cracking susceptibility of austenitic stainless steels in supercritical water conditions by Novotny, R., Hähner, P., Siegl, J., Haušild, P., Ripplinger, S., Penttilä, S., Toivonen, A.

    Published in Journal of nuclear materials (15-02-2011)
    “…The presented paper summarizes the results of general corrosion and stress corrosion cracking (SCC) susceptibility tests in supercritical water (SCW), studied…”
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    Journal Article Conference Proceeding
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    High Cr ODS steels performance under supercritical water environment by Novotný, R., Janík, P., Penttilä, S., Hähner, P., Macák, J., Siegl, J., Haušild, P.

    Published in The Journal of supercritical fluids (01-09-2013)
    “…⿢Corrosion exposure of MA956 and PM2000 in 650°C SCW was performed.⿢Oxide layer thickness of exposed MA 956 specimens ranged from 2μm to 4.5μm.⿢8μm thick oxide…”
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    Journal Article
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    Late-onset lower motor neuronopathy by Jokela, M, Penttilae, S, Huovinen, S, Hackman, P, Saukkonen, A M, Toivanen, J, Udd, B

    Published in Neurology (26-07-2011)
    “…Objective: Characterization of a new type of late-onset autosomal dominant lower motor neuron disease. Methods: Patients from 2 families underwent detailed…”
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    Journal Article
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    New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics by RAHEEM, Olayinka, PENTTILÄ, Sini, METSIKKÖ, Kalervo, HANNA, Michael, UDD, Bjarne, SUOMINEN, Tiina, KAAKINEN, Mika, BURGE, James, HAWORTH, Andrea, SUD, Richa, SCHORGE, Stephanie, HAAPASALO, Hannu, SANDELL, Satu

    Published in Neurology (27-11-2012)
    “…The objective of this study was to validate the immunohistochemical assay for the diagnosis of nondystrophic myotonia and to provide full clarification of…”
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    Journal Article
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    G.P.97 Haplotype analyses reveal several new patients with late-onset spinal motor neuronopathy by Penttilä, S, Jokela, M, Saukkonen, A.M, Toivanen, J, Udd, B

    Published in Neuromuscular disorders : NMD (01-10-2012)
    “…Abstract Spinal muscular atrophies (SMA) are hereditary disorders characterized by degeneration of lower motor neurons. Different SMA types are clinically and…”
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    Journal Article
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    G.P.101 New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics by Raheem, O, Penttilä, S, Suominen, T, Kaakinen, M, Burge, J, Haworth, A, Sud, R, Schorge, S, Haapasalo, H, Sandell, S, Metsikkö, K, Hanna, M, Udd, B

    Published in Neuromuscular disorders : NMD (01-10-2012)
    “…Abstract Most patients with myotonia have either congenital myotonia caused by mutated chloride or sodium channel, or progressive myotonic dystrophy (types 1…”
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    Journal Article
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    Avoiding eddy-current problems in ultra-low-field MRI with self-shielded polarizing coils by Nieminen, Jaakko O., Vesanen, Panu T., Zevenhoven, Koos C.J., Dabek, Juhani, Hassel, Juha, Luomahaara, Juho, Penttilä, Jari S., Ilmoniemi, Risto J.

    Published in Journal of magnetic resonance (1997) (01-09-2011)
    “…[Display omitted] ► We present a solution to the eddy-current problem in ultra-low-field MRI. ► Self-shielded polarizing coils produce weak stray fields. ►…”
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    Journal Article
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    Characteristics, determinants and interpretations of acute lethality in daphnids exposed to complex waste leachates by Assmuth, T., Penttilä, S.

    Published in Aquatic toxicology (1995)
    “…Acute lethality of the water flea Daphnia magna exposed to leachate runoff samples from 35 Finnish mixed waste disposal sites was measured with 24 h tests…”
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    Journal Article