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.

Friedreich ataxia in chinese population (short note)

Friedreich ataxia in chinese population. Dr Xuefeng Pan, Dr Xuefeng Pan's Web Log


We have identified at least two cases of Friedreich ataxia in chinese population in chinese mainland, our findings for the first time unraveled a fact that Chinese people are also vulnerable to Friedreich ataxia

Consensus clinical management guidelines for Friedreich ataxia

Consensus clinical management guidelines for Friedreich ataxia.. Louise A Corben, David Lynch, Massimo Pandolfo, Jörg B Schulz, Martin B Delatycki and On behalf of the Clinical Management Guidelines Writing Group; Orphanet Journal of Rare Diseases 2014, 9:184 doi:10.1186/s13023-014-0184-7

OPEN ACCESS (Summary of recommendations and process of developing the guidelines).

FARA FUNDED: Awesome document with the support of FARA. A knowledge upgrade which gathers the views of clinicians from several countries. It has been developed under the newest international standards of assessment and analysis of the clinical management of the disease.

Consensus Clinical Management Guidelines (Full Text Only Available on the FARA Website)

User's Guide


Authors:
Executive committee: Professor Martin Delatycki, Dr Louise Corben, Professor Massimo Pandolfo, Professor David Lynch, Professor Jörg Shultz.

Contributing authors: Dr Laura Balcer (USA), Mr Ron Bartek (USA), Dr Claire Bates (UK), Ms Emma Campagna (Australia), Dr Louise Corben (Australia), Dr Miriam Cnop (Belgium), Professor Martin Delatycki (Australia), Professor Alexandra Dürr (France), Dr Anton Emmanuel (UK), Ms Jennifer Farmer (USA), Professor John Flynn (USA), Ms Lisa S. Friedman (USA), Dr Paola Giunti (UK), Dr Marios Hadjivassiliou (UK), Dr Michael Ho (Australia), Dr Grazia Isaya (USA), Dr Mary Kearney (Ireland), Ms Melissa Loucas (UK), Professor David R. Lynch (USA), Dr Caterina Marotti (Italy), Ms Sarah Milne (Australia), Dr Thierry Morlet (USA), Dr Andrew McGarry (USA), Professor Massimo Pandolfo (Belgium), Dr Jalesh Panicker (UK), Dr Michael Parkinson (UK), Dr R Mark Payne (USA), Dr Roger Peverill (Australia), Associate Professor Gary Rance (Australia), Ms Lucy Rodriguez (UK), Ms Kimberly A. Schadt (USA), Ms Lauren Seyer (USA), Professor Jörg Shultz (Germany), Dr S.H Subramony (USA), Dr. Kelly L. Sullivan (USA), Dr Adam Vogel (Australia), Dr Eppie Yiu (Australia), Dr Grace Yoon (Canada), Dr. Theresa A. Zesiewicz (USA).