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A novel, rapidly progressive ataxia due to a spontaneous Myo5a mutation in mice impairs transport proteins and alters mitochondria.

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Title: A novel, rapidly progressive ataxia due to a spontaneous Myo5a mutation in mice impairs transport proteins and alters mitochondria.
Authors: Telenson AM; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Hsieh RR; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Cowen GJ; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Sode EP; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Kwon JM; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Vo AH; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Hadhazy M; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Page PG; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Rao NR; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Pesce L; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Demonbreun AR; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Puckelwartz MJ; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Savas JN; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., McNally EM; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.; Division of Cardiology, Department of Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.; Department of Biochemistry and Molecular Biology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.
Source: FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2025 Mar 15; Vol. 39 (5), pp. e70423.
Publication Type: Journal Article
Journal Info: Publisher: Federation of American Societies for Experimental Biology Country of Publication: United States NLM ID: 8804484 Publication Model: Print Cited Medium: Internet ISSN: 1530-6860 (Electronic) Linking ISSN: 08926638 NLM ISO Abbreviation: FASEB J Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A novel, rapidly progressive ataxia due to a spontaneous Myo5a mutation in mice impairs transport proteins and alters mitochondria.
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  Data: <searchLink fieldCode="AU" term="%22Telenson+AM%22">Telenson AM</searchLink>; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.<br /><searchLink fieldCode="AU" term="%22Hsieh+RR%22">Hsieh RR</searchLink>; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.<br /><searchLink fieldCode="AU" term="%22Cowen+GJ%22">Cowen GJ</searchLink>; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.<br /><searchLink fieldCode="AU" term="%22Sode+EP%22">Sode EP</searchLink>; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.<br /><searchLink fieldCode="AU" term="%22Kwon+JM%22">Kwon JM</searchLink>; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.<br /><searchLink fieldCode="AU" term="%22Vo+AH%22">Vo AH</searchLink>; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.<br /><searchLink fieldCode="AU" term="%22Hadhazy+M%22">Hadhazy M</searchLink>; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.<br /><searchLink fieldCode="AU" term="%22Page+PG%22">Page PG</searchLink>; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.<br /><searchLink fieldCode="AU" term="%22Rao+NR%22">Rao NR</searchLink>; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.<br /><searchLink fieldCode="AU" term="%22Pesce+L%22">Pesce L</searchLink>; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.<br /><searchLink fieldCode="AU" term="%22Demonbreun+AR%22">Demonbreun AR</searchLink>; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.<br /><searchLink fieldCode="AU" term="%22Puckelwartz+MJ%22">Puckelwartz MJ</searchLink>; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.<br /><searchLink fieldCode="AU" term="%22Savas+JN%22">Savas JN</searchLink>; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.<br /><searchLink fieldCode="AU" term="%22McNally+EM%22">McNally EM</searchLink>; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.; Division of Cardiology, Department of Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.; Department of Biochemistry and Molecular Biology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.
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              Text: 2025 Mar 15
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