Leber hereditary optic neuropathy

By P. Y. W. Man, D. Turnbull, Patrick F. Chinnery. Journal of Medical Genetics, 2002

631 citations recorded by the source corpus.

Subfields: Molecular Biology, Ophthalmology

View Paper: https://www.semanticscholar.org/paper/f671bb6450cdf15fdf123315618a23417b0c9426

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Citations in the corpus

• Mitochondrial DNA mutations and human disease. (2010, background): “14484TNC), which in total are present in at least 95% of LHON cases [56,124].”
• Mitochondrial dysfunction as a cause of optic neuropathies. (2004, background): “…with genes encoded by chromosome X by linkage analysis (Chen et al., 1989; Carvalho et al., 1992; Chalmers et al., 1996), by investigating the X-inactivation pattern (Pegoraro et al., 1996; Oostra et al., 1996; Pegoraro et al., 2003), or by directly investigating candidate genes (Man et al., 2002).”