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    Wyświetlanie 1-4 z 4
    Tytuł:
    Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype.
    Autorzy:
    Kärppä M; Research Unit of Clinical Neuroscience, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland.; Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.; Department of Neurology, Oulu University Hospital, P.O. Box 20, FI-90029 OYS, Oulu, Finland.
    Kytövuori L; Research Unit of Clinical Neuroscience, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland. .; Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland. .; Department of Neurology, Oulu University Hospital, P.O. Box 20, FI-90029 OYS, Oulu, Finland. .
    Saari M; Turku Centre for Biotechnology, Cell Imaging Core, University of Turku, FI-20520, Turku, Finland.
    Majamaa K; Research Unit of Clinical Neuroscience, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland.; Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.; Department of Neurology, Oulu University Hospital, P.O. Box 20, FI-90029 OYS, Oulu, Finland.
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    Źródło:
    BMC neurology [BMC Neurol] 2018 Sep 20; Vol. 18 (1), pp. 149. Date of Electronic Publication: 2018 Sep 20.
    Typ publikacji:
    Case Reports; Journal Article
    MeSH Terms:
    DNA, Mitochondrial/*genetics
    Muscular Diseases/*genetics
    RNA, Transfer/*genetics
    Threonine/*genetics
    Adult ; Age of Onset ; Humans ; Male ; Muscle, Skeletal/pathology ; Muscular Diseases/pathology ; Mutation ; Phenotype
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder.
    Autorzy:
    Kytövuori L; Research Unit of Clinical Neuroscience, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland. .; Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland. .; Department of Neurology, Oulu University Hospital, P.O. Box 20, OYS, FI-90029, Oulu, Finland. .
    Kärppä M; Research Unit of Clinical Neuroscience, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland.; Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.; Department of Neurology, Oulu University Hospital, P.O. Box 20, OYS, FI-90029, Oulu, Finland.
    Tuominen H; Department of Pathology, Cancer and Translational Medicine Research Unit, University of Oulu and Department of Pathology, Oulu University Hospital, Oulu, Finland.
    Uusimaa J; Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.; PEDEGO Research Unit, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland.; Department of Children and Adolescents, Division of Pediatric Neurology, Oulu University Hospital, Oulu, Finland.; Biocenter Oulu, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland.
    Saari M; Turku Centre for Biotechnology, Cell Imaging Core, University of Turku, FI-20520, Turku, Finland.
    Hinttala R; Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.; PEDEGO Research Unit, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland.; Department of Children and Adolescents, Division of Pediatric Neurology, Oulu University Hospital, Oulu, Finland.; Biocenter Oulu, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland.
    Majamaa K; Research Unit of Clinical Neuroscience, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland.; Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.; Department of Neurology, Oulu University Hospital, P.O. Box 20, OYS, FI-90029, Oulu, Finland.
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    Źródło:
    BMC neurology [BMC Neurol] 2017 May 18; Vol. 17 (1), pp. 96. Date of Electronic Publication: 2017 May 18.
    Typ publikacji:
    Case Reports; Journal Article
    MeSH Terms:
    DNA, Mitochondrial/*genetics
    Electron Transport Complex IV/*genetics
    Mitochondrial Diseases/*genetics
    Adult ; Cytochrome-c Oxidase Deficiency ; Electron Transport Complex IV/metabolism ; Frameshift Mutation ; Humans ; Male ; Mitochondria/enzymology ; Mitochondrial Diseases/pathology ; Muscles/pathology ; Mutation ; Sequence Deletion
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease.
    Autorzy:
    Soini HK; Research Unit of Clinical Neuroscience, Neurology, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland. .; Medical Research Center Oulu, Oulu University Hospital and University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland. .; Department of Neurology, Oulu University Hospital, P.O. Box 20, FI-90029 OYS, Oulu, Finland. .; PEDEGO Research Unit, Pediatrics, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland. .
    Väisänen A; Research Unit of Clinical Neuroscience, Neurology, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland.; Medical Research Center Oulu, Oulu University Hospital and University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland.; Department of Neurology, Oulu University Hospital, P.O. Box 20, FI-90029 OYS, Oulu, Finland.
    Kärppä M; Research Unit of Clinical Neuroscience, Neurology, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland.; Medical Research Center Oulu, Oulu University Hospital and University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland.; Department of Neurology, Oulu University Hospital, P.O. Box 20, FI-90029 OYS, Oulu, Finland.
    Hinttala R; Medical Research Center Oulu, Oulu University Hospital and University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland.; PEDEGO Research Unit, Pediatrics, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland.; Department of Pediatrics, Oulu University Hospital, P.O. Box 23, FI-90029 OYS, Oulu, Finland.
    Kytövuori L; Research Unit of Clinical Neuroscience, Neurology, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland.; Medical Research Center Oulu, Oulu University Hospital and University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland.; Department of Neurology, Oulu University Hospital, P.O. Box 20, FI-90029 OYS, Oulu, Finland.
    Moilanen JS; Medical Research Center Oulu, Oulu University Hospital and University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland.; Department of Clinical Genetics, Oulu University Hospital, P.O. Box 23, FI-90029 OYS, Oulu, Finland.; PEDEGO Research Unit, Clinical Genetics, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland.
    Uusimaa J; Medical Research Center Oulu, Oulu University Hospital and University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland.; PEDEGO Research Unit, Pediatrics, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland.; Department of Pediatrics, Oulu University Hospital, P.O. Box 23, FI-90029 OYS, Oulu, Finland.
    Majamaa K; Research Unit of Clinical Neuroscience, Neurology, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland.; Medical Research Center Oulu, Oulu University Hospital and University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland.; Department of Neurology, Oulu University Hospital, P.O. Box 20, FI-90029 OYS, Oulu, Finland.
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    Źródło:
    BMC medical genetics [BMC Med Genet] 2017 Feb 10; Vol. 18 (1), pp. 14. Date of Electronic Publication: 2017 Feb 10.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    DNA, Mitochondrial/*genetics
    Mitochondrial Diseases/*genetics
    Base Sequence ; DNA Polymerase gamma ; DNA, Mitochondrial/classification ; DNA, Mitochondrial/metabolism ; DNA-Directed DNA Polymerase/genetics ; Electrophoresis, Polyacrylamide Gel ; Female ; Haplotypes ; Humans ; Male ; Middle Aged ; Mitochondrial Diseases/pathology ; Nucleic Acid Conformation ; Open Reading Frames/genetics ; Phylogeny ; Sequence Deletion
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.
    Autorzy:
    Komulainen T; Department of Pediatrics, University of Oulu, Box 5000, FIN-90014, University of Oulu, Oulu, Finland.
    Hinttala R
    Kärppä M
    Pajunen L
    Finnilä S
    Tuominen H
    Rantala H
    Hassinen I
    Majamaa K
    Uusimaa J
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    Źródło:
    BMC neurology [BMC Neurol] 2010 May 03; Vol. 10, pp. 29. Date of Electronic Publication: 2010 May 03.
    Typ publikacji:
    Case Reports; Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Arginine/*genetics
    DNA, Mitochondrial/*genetics
    DNA-Directed DNA Polymerase/*genetics
    Mitochondrial Diseases/*genetics
    Mutation/*genetics
    Aged, 80 and over ; Brain/pathology ; DNA Polymerase gamma ; Deglutition Disorders/complications ; Diabetes Mellitus, Type 2/complications ; Disease Progression ; Histidine/genetics ; Humans ; Male ; Mitochondrial Diseases/complications ; Ophthalmoplegia/complications ; Phenotype
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-4 z 4

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