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Aberrant Mitochondria in a Bethlem Myopathy Patient with a Homozygous Amino Acid Substitution That Destabilizes the Collagen VI α2(VI) Chain*.
Journal of Biological Chemistry
290(7)
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4272 -4281
2015
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Lamandé, SR, North, KN.
Activating internal ribosome entry to treat Duchenne muscular dystrophy.
Nature Medicine
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987 -988
2014
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Sillence, DO, Lamandé, SR.
Chapter 1 Evolution of the Present Understanding of the Clinical and Genetic Heterogeneity and Molecular and Biochemical Basis of Osteogenesis Imperfecta.
5 -14
2014
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Foley, AR, Quijano-Roy, S, Collins, J, Straub, V, McCallum, M, Deconinck, N, Mercuri, E, Pane, M, D’Amico, A, Bertini, E, et al.
Natural history of pulmonary function in collagen VI-related myopathies.
Brain
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3625 -3633
2013
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Fang, Y, Bateman, JF, Mercer, JF, Lamandé, SR.
Nonsense-mediated mRNA decay of collagen –emerging complexity in RNA surveillance mechanisms.
Journal of Cell Science
126(12)
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2551 -2560
2013
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