Friedreich’s Ataxia: From Molecular Biology to the Quest for Therapies;
Lecture abstract
Friedreich Ataxia and close related scientific news. Topics related to rare diseases.
Friday, April 4, 2014
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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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.
OPEN ACCESS FULL TEXT PDF
OPEN ACCESS FULL TEXT PDF
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.