Concepedia

New phenotypic diversity associated with the mitochondrial tRNASer(UCN) gene mutation

Teeratorn Pulkes, Danae Liolitsa, L. H. Eunson, M Rose, Isabelle Nelson, Shamima Rahman, Joanna Poulton, David R. Marchington, D. N. Landon, Allan DeBono,

Neuromuscular Disorders · 2005 · 33 citations · 21 references

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References

21

Sequence and organization of the human mitochondrial genome

Stephen K. Anderson, Alan T. Bankier, B. G. Barrell et al. · Nature · 1981 · 9.7K citations

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Nitric Oxide‐Mediated Inhibition of the Mitochondrial Respiratory Chain in Cultured Astrocytes

Juan P. Bolaños, S Peuchen, Simon Heales et al. · Journal of Neurochemistry · 1994 · 422 citations

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Defects in Mitochondrial Protein Synthesis and Respiratory Chain Activity Segregate with the tRNA<sup>Leu(UUR)</sup> Mutation Associated with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Strokelike Episodes

Michael P. King, Yasutoshi Koga, Mercy M. Davidson et al. · Molecular and Cellular Biology · 1992 · 421 citations · Full text

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Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.

Michael P. King, Yasutoshi Koga, Mercy M. Davidson et al. · Molecular and Cellular Biology · 1992 · 350 citations

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Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNA <sup>Ser(UCN)</sup> gene

Valeria Tiranti, Patrick Chariot, F. Carella et al. · Human Molecular Genetics · 1995 · 209 citations

, , +17