| 1 | ATP2A1, BROD
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| Atypical nuclear abnormalities in a patient with Brody disease.
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| Mussini JM, Magot A, Hantaď D, Sternberg D, Chevessier F, Péréon Y.
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| Neuromuscul Disord 25(10):773-9. doi: 10.1016/j.nmd.2015.07.005. Epub 2015 Jul 13.
2015
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| 2 | ATP2A1, BROD
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| SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers.
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| 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.
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| Mol Genet Metab 110(1-2):162-9. doi: 10.1016/j.ymgme.2013.07.015. Epub 2013 Jul 20.
2013
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| 3 | ATP2A1, BROD
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| Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients.
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| 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.
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| Neuromuscul Disord 22(11):944-54. doi: 10.1016/j.nmd.2012.03.012. Epub 2012 Jun 15.
2012
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| 4 | ATP2A1, BROD
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| Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease.
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| Drögemüller C, Drögemüller M, Leeb T, Mascarello F, Testoni S, Rossi M, Gentile A, Damiani E, Sacchetto R.
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| Genomics 92(6):474-7. Epub 2008 Sep 25.
2008
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| 5 | ATP2A1, BROD
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| Calcium uptake and release through sarcoplasmic reticulum in the inferior oblique muscles of patients with inferior oblique overaction.
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| Kim HS, Chang YH, Kim DH, Park SR, Han SH, Lee JB.
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| Yonsei Med J 47(2):207-13. 2006
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| 6 | ATP2A1, BROD
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| The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease.
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| Odermatt A, Barton K, Khanna VK, Mathieu J, Escolar D, Kuntzer T, Karpati G, MacLennan DH.
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| Hum Genet 106(5):482-91. 2000
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| 7 | ATP2A1, BROD
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| Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease.
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| Odermatt A, et al.
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| Nat Genet 14 : 191-194. 1996
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| 8 | ATP2A1, BROD
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| Characterization of cDNA and genomic DNA encoding SERCA1, the Ca2+-ATPase of human fast-twitch skeletal muscle sarcoplasmic reticulum, and its elimination as a candidate gene for Brody disease.
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| Zhang Y, et al.
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| Genomics 30 : 415-424. 1995
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| 9 | ATP2A1, BROD
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| Myopathy caused by a deficiency of Ca2+- adenosine triphosphatase in sarcoplasmic reticulum ( Brody's disease).
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| Karpati G, et al.
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| Ann Neurol 20 : 38-49. 1986
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