Pharmaceutical pricing, cost containment and new treatments for rare diseases in children

Pharmaceutical pricing, cost containment and new treatments for rare diseases in children. Peter Stella and Gabrielle Gold-von Simson; Orphanet Journal of Rare Diseases 2014, 9:152 doi:10.1186/s13023-014-0152-2

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Mitochondria, Energetics, Epigenetics, and Cellular Responses to Stress

Mitochondria, Energetics, Epigenetics, and Cellular Responses to Stress. Shaughnessy DT, McAllister K, Worth L, Haugen AC, Meyer JN, Domann FE, Van Houten B, Mostoslavsky R, Bultman SJ, Baccarelli AA, Begley TJ, Sobol RW, Hirschey MD, Ideker T, Santos JH, Copeland WC, Tice RR, Balshaw DM, Tyson FL.; Environ Health Perspect 122:1271–1278; http://dx.doi.org/10.1289/ehp.1408418

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Ataxia

Ataxia. Umar Akbar, Tetsuo Ashizawa, Neurologic Clinics, Volume 33, Issue 1, February 2015, Pages 225-248, ISSN 0733-8619, http://dx.doi.org/10.1016/j.ncl.2014.09.004.

Keywords: Ataxia; Inherited; Sporadic; Autosomal dominant; Autosomal recessive; Mitochondrial; Diagnosis; Treatment

Topoisomerase I Plays a Critical Role in Suppressing Genome Instability at a Highly Transcribed G-Quadruplex-Forming Sequence

Topoisomerase I Plays a Critical Role in Suppressing Genome Instability at a Highly Transcribed G-Quadruplex-Forming Sequence . Puja Yadav, Victoria Harcy, Juan Lucas Argueso, Margaret Dominska, Sue Jinks-Robertson, Nayun Kim; PLoS Genet 10(12): e1004839. doi:10.1371/journal.pgen.1004839

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Genomic instability at purine-rich GAA•TTC repeats and CAG•CTG repeats, which can fold into three-stranded H-DNA and a slipped hairpin structure, forms the molecular basis of multiple neurodegenerative diseases, such as Freidreich's Ataxia and Huntington's disease, respectively.