Defining the action spectrum of potential PGC-1α activators on a mitochondrial and cellular level in vivo

Defining the action spectrum of potential PGC-1α activators on a mitochondrial and cellular level in vivo. Annette Hofer, Natalie Noe, Christin Tischner, Nikolay Kladt, Veronika Lellek, Astrid Schauß and Tina Wenz; Hum. Mol. Genet. (2014) 23 (9): 2400-2415. doi: 10.1093/hmg/ddt631

Gene Expression Profiling of Mitochondrial Oxidative Phosphorylation (OXPHOS) Complex I in Friedreich Ataxia (FRDA) Patients

Gene Expression Profiling of Mitochondrial Oxidative Phosphorylation (OXPHOS) Complex I in Friedreich Ataxia (FRDA) Patients . Salehi MH, Kamalidehghan B, Houshmand M, Yong Meng G, Sadeghizadeh M, Omid Aryani, Shahriar Nafissi; PLoS ONE 9(4): e94069. doi:10.1371/journal.pone.0094069

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Friedreich’s Ataxia: From Molecular Biology to the Quest for Therapies

Friedreich’s Ataxia: From Molecular Biology to the Quest for Therapies;

Lecture abstract

Genetics of hereditary neurological disorders in children

Genetics of hereditary neurological disorders in children. Yue Huang, Sui Yu, Zhanhe Wu, Beisha Tang; Translational Pediatrics, Vol 3, No 2 (April 2014); doi: 10.3978/j.issn.2224-4336.2014.03.04

Review Article

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Frataxin Silencing Inactivates Mitochondrial Complex I in NSC34 Motoneuronal Cells and Alters Glutathione Homeostasis

Frataxin Silencing Inactivates Mitochondrial Complex I in NSC34 Motoneuronal Cells and Alters Glutathione Homeostasis. Carletti, B.; Piermarini, E.; Tozzi, G.; Travaglini, L.; Torraco, A.; Pastore, A.; Sparaco, M.; Petrillo, S.; Carrozzo, R.; Bertini, E.; Piemonte, F; International Journal of Molecular Sciences. 2014; 15(4):5789-5806.

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A 7 year old girl with hypertrophic cardiomyopathy and progressive scoliosis

A 7 year old girl with hypertrophic cardiomyopathy and progressive scoliosis. Radhika Dhamija, Salman Kirmani; Seminars in Pediatric Neurology, Available online 3 April 2014, ISSN 1071-9091, http://dx.doi.org/10.1016/j.spen.2014.04.003.

Base Excision Repair of Chemotherapeutically-Induced Alkylated DNA Damage Predominantly Causes Contractions of Expanded GAA Repeats Associated with Friedreich's Ataxia.

Base Excision Repair of Chemotherapeutically-Induced Alkylated DNA Damage Predominantly Causes Contractions of Expanded GAA Repeats Associated with Friedreich's Ataxia. Yanhao Lai, Jill M. Beaver, Karla Lorente, Jonathan Melo, Shyama Ramjagsingh, Irina U. Agoulnik, Zunzhen Zhang, Yuan Liu; PLoS One. 2014 Apr 1;9(4):e93464. doi: 10.1371/journal.pone.0093464. eCollection 2014.

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Restoring cognitive functions using non-invasive brain stimulation techniques in patients with cerebellar disorders

Restoring cognitive functions using non-invasive brain stimulation techniques in patients with cerebellar disorders . Pope Paul A, Miall R Chris; Front. Psychiatry, 02 April 2014 | doi: 10.3389/fpsyt.2014.00033

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Friedreich’s Ataxia: FDA Orphan Drug Designations

Friedreich’s Ataxia: FDA Orphan Drug Designations. The Orphan Druganaut Blog, March 25, 2014

Chart which identifies all FDA Orphan Drug Designations (ODDs) for FRDA in ascending date order

The role of frataxin in doxorubicin-mediated cardiac hypertrophy

The role of frataxin in doxorubicin-mediated cardiac hypertrophy . Shravanthi Mouli, Gayani Nanayakkara, Rain Fu, Avery Berlin, Abdul Alasmari, Robert Arnold and Rajesh Amin; The FASEB Journal vol. 28 no. 1 Supplement 648.6, April 2014

Keywords: Heart failure, cancer chemotherapeutic, doxorubicin (DOX), cardiac hypertrophy, Frataxin (FXN)