R01 NS043264-07S1/NS/NINDS NIH HHS/United States[Grants and Funding] - Search Results

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Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy.

Kaspar RW, Allen HD, Ray WC, Alvarez CE, Kissel JT, Pestronk A, Weiss RB, Flanigan KM, Mendell JR, Montanaro F. Kaspar RW, et al. Circ Cardiovasc Genet. 2009 Dec;2(6):544-51. doi: 10.1161/CIRCGENETICS.109.867242. Epub 2009 Sep 30. Circ Cardiovasc Genet. 2009. PMID: 20031633 Free PMC article.

A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy.

Maiti B, Arbogast S, Allamand V, Moyle MW, Anderson CB, Richard P, Guicheney P, Ferreiro A, Flanigan KM, Howard MT. Maiti B, et al. Hum Mutat. 2009 Mar;30(3):411-6. doi: 10.1002/humu.20879. Hum Mutat. 2009. PMID: 19067361 Free PMC article.

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