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Journal Abstract Search

141 related items for PubMed ID: 20142766

  • 1. Brody disease: insights into biochemical features of SERCA1 and identification of a novel mutation.
    Vattemi G, Gualandi F, Oosterhof A, Marini M, Tonin P, Rimessi P, Neri M, Guglielmi V, Russignan A, Poli C, van Kuppevelt TH, Ferlini A, Tomelleri G.
    J Neuropathol Exp Neurol; 2010 Mar; 69(3):246-52. PubMed ID: 20142766
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  • 2. SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers.
    Guglielmi V, Vattemi G, Gualandi F, Voermans NC, Marini M, Scotton C, Pegoraro E, Oosterhof A, Kósa M, Zádor E, Valente EM, De Grandis D, Neri M, Codemo V, Novelli A, van Kuppevelt TH, Dallapiccola B, van Engelen BG, Ferlini A, Tomelleri G.
    Mol Genet Metab; 2013 Mar; 110(1-2):162-9. PubMed ID: 23911890
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  • 3. Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
    Molenaar JP, Verhoeven JI, Rodenburg RJ, Kamsteeg EJ, Erasmus CE, Vicart S, Behin A, Bassez G, Magot A, Péréon Y, Brandom BW, Guglielmi V, Vattemi G, Chevessier F, Mathieu J, Franques J, Suetterlin K, Hanna MG, Guyant-Marechal L, Snoeck MM, Roberts ME, Kuntzer T, Fernandez-Torron R, Martínez-Arroyo A, Seeger J, Kusters B, Treves S, van Engelen BG, Eymard B, Voermans NC, Sternberg D.
    Brain; 2020 Feb 01; 143(2):452-466. PubMed ID: 32040565
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  • 5. Characterization of cDNA and genomic DNA encoding SERCA1, the Ca(2+)-ATPase of human fast-twitch skeletal muscle sarcoplasmic reticulum, and its elimination as a candidate gene for Brody disease.
    Zhang Y, Fujii J, Phillips MS, Chen HS, Karpati G, Yee WC, Schrank B, Cornblath DR, Boylan KB, MacLennan DH.
    Genomics; 1995 Dec 10; 30(3):415-24. PubMed ID: 8825625
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  • 7. Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease.
    Odermatt A, Taschner PE, Scherer SW, Beatty B, Khanna VK, Cornblath DR, Chaudhry V, Yee WC, Schrank B, Karpati G, Breuning MH, Knoers N, MacLennan DH.
    Genomics; 1997 Nov 01; 45(3):541-53. PubMed ID: 9367679
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  • 8. Structural study of skeletal muscle fibres in healthy and pseudomyotonia affected cattle.
    Mascarello F, Sacchetto R.
    Ann Anat; 2016 Sep 01; 207():21-6. PubMed ID: 27210062
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  • 9. Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients.
    Voermans NC, Laan AE, Oosterhof A, van Kuppevelt TH, Drost G, Lammens M, Kamsteeg EJ, Scotton C, Gualandi F, Guglielmi V, van den Heuvel L, Vattemi G, van Engelen BG.
    Neuromuscul Disord; 2012 Nov 01; 22(11):944-54. PubMed ID: 22704959
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  • 10. Differential Analysis of Gly211Val and Gly286Val Mutations Affecting Sarco(endo)plasmic Reticulum Ca2+-ATPase (SERCA1) in Congenital Pseudomyotonia Romagnola Cattle.
    Akyürek EE, Busato F, Murgiano L, Bianchini E, Carotti M, Sandonà D, Drögemüller C, Gentile A, Sacchetto R.
    Int J Mol Sci; 2022 Oct 15; 23(20):. PubMed ID: 36293223
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  • 14. Pseudomyotonia, a muscle function disorder associated with an inherited ATP2A1 (SERCA1) defect in a Dutch Improved Red and White cross-breed calf.
    Grünberg W, Sacchetto R, Wijnberg I, Neijenhuis K, Mascarello F, Damiani E, Drögemüller C.
    Neuromuscul Disord; 2010 Jul 15; 20(7):467-70. PubMed ID: 20547455
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  • 18. SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy.
    Tomelleri G, Palmucci L, Tonin P, Mongini T, Marini M, L'erario R, Rizzuto N, Vattemi G.
    Brain; 2006 Aug 15; 129(Pt 8):2085-92. PubMed ID: 16714317
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