Principled compassion, 'right to try'

Principled compassion, 'right to try' . Editorial, Nature Medicine 20, 1355 (2014) doi:10.1038/nm.3772

As the momentum of right-to-try legislation demonstrates, the public increasingly demands access to the compassionate use of investigational treatments, and companies and regulators need to adapt to this new reality.

A methodological framework for drug development in rare diseases

A methodological framework for drug development in rare diseases. Patrice Nony, Polina Kurbatova, Agathe Bajard, Salma Malik, Charlotte Castellan, Sylvie Chabaud, Vitaly Volpert, Nathalie Eymard, Behrouz Kassai, Catherine Cornu and The CRESim and Epi-CRESim study groups; Orphanet Journal of Rare Diseases 2014, 9:164 doi:10.1186/s13023-014-0164-y

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Monitoring Cardiac Function During Idebenone Therapy in Friedreich's Ataxia

Monitoring Cardiac Function During Idebenone Therapy in Friedreich's Ataxia. Di Salvo Giovanni, Pergola Valeria, Fadel Bahaa and Al Fayyadh Majid; Curr Pharm Des. 2014;21(4):479-83. DOI: 10.2174/138161282104141204142917

The iron-binding CyaY and IscX proteins assist the ISC-catalyzed Fe-S 1 biogenesis in Escherichia coli

The iron-binding CyaY and IscX proteins assist the ISC-catalyzed Fe-S 1 biogenesis in Escherichia coli. Béatrice Roche, Allison Huguenot, Frédéric Barras and Béatrice Py; Molecular Microbiology (Accepted Article)2014, DOI: 10.1111/mmi.12888

The Mitochondria in Heart Failure: A Target for Coenzyme Q10 Therapy?

The Mitochondria in Heart Failure: A Target for Coenzyme Q10 Therapy?. A Mortensen and A L Mortensen, Clinical Pharmacology & Therapeutics 96, 645-647 (December 2014) | doi:10.1038/clpt.2014.175

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.

Hawking's speech software goes open source for disabled

Hawking's speech software goes open source for disabled. Phys-Org News 12/2014

The system that helps Stephen Hawking communicate with the outside world will be made available online from January in a move that could help millions of motor neurone disease sufferers, scientists said Tuesday.