Medical management of hereditary optic neuropathies. La Morgia C, Carbonelli M, Barboni P, Sadun AA and Carelli V; Front. Neurol. 5:141. doi: 10.3389/fneur.2014.00141
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Thursday, July 31, 2014
Hypertrophic cardiomyopathy: a heart in need of an energy bar?
Hypertrophic cardiomyopathy: a heart in need of an energy bar?. Styliani Vakrou and M Roselle Abraham; Front. Physiol. 5:309. doi: 10.3389/fphys.2014.00309
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Mesenchymal Stem Cells Improve Motor Functions and Decrease Neurodegeneration in Ataxic Mice
Mesenchymal Stem Cells Improve Motor Functions and Decrease Neurodegeneration in Ataxic Mice. Jonathan Jones, Alicia Estirado, Carolina Redondo, Jesus Pacheco-Torres, Maria-Salomé Sirerol-Piquer, José Manuel Garcia-Verdugo and Salvador Martinez; Molecular Therapy accepted article preview 29 July 2014; doi: 10.1038/mt.2014.143
Bone marrow mesenchymal stem cell transplantation, both autologous and allogeneic, is a feasible therapeutic option to consider in delaying the neurodegeneration observed in the dorsal root ganglia of Friedreich´s ataxia patients.
Bone marrow mesenchymal stem cell transplantation, both autologous and allogeneic, is a feasible therapeutic option to consider in delaying the neurodegeneration observed in the dorsal root ganglia of Friedreich´s ataxia patients.
Tuesday, July 29, 2014
Hierarchical Virtual Screening Approaches in Small Molecule Drug Discovery
Hierarchical Virtual Screening Approaches in Small Molecule Drug Discovery. Ashutosh Kumar, Kam Y.J. Zhang,Methods, Available online 27 July 2014, ISSN 1046-2023, http://dx.doi.org/10.1016/j.ymeth.2014.07.007.
Several virtual screening studies are discussed to demonstrate the successful application of hierarchical virtual screening in small molecule drug discovery. Scaffold searches identified a series of compounds able to disrupt frataxin/ubiquitin PPI, resulted in the identification of one compound that prevented frataxin ubiquitination and degradation.
Several virtual screening studies are discussed to demonstrate the successful application of hierarchical virtual screening in small molecule drug discovery. Scaffold searches identified a series of compounds able to disrupt frataxin/ubiquitin PPI, resulted in the identification of one compound that prevented frataxin ubiquitination and degradation.
Friday, July 25, 2014
Clinical and Genetic Study of Friedreich’s Ataxia and Ataxia with Vitamin E Deficiency in 44 Moroccan Families
Clinical and Genetic Study of Friedreich’s Ataxia and Ataxia with Vitamin E Deficiency in 44 Moroccan Families. Fatima Imounan, Naima Bouslam, El Hachmia Aitbenhaddou1, Wafa Regragui1, Ahmed Bouhouche, Ali Benomar, Mohammed Yahyaoui; World Journal of Neuroscience, 2014, 4, 299-305, Published Online August 2014 in SciRes. http://www.scirp.org/journal/wjns
http://dx.doi.org/10.4236/wjns.2014.44033
http://dx.doi.org/10.4236/wjns.2014.44033
Autosomal Recessive Cerebellar Ataxias
Autosomal Recessive Cerebellar Ataxias; Dr. Anne Noreau, Dr. Nicolas Dupré, Dr. Jean-Pierre Bouchard, Dr. Patrick A. Dion, Dr. Guy A. Rouleau; Handbook of the Cerebellum and Cerebellar Disorders, 2013, pp 2177-2191
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Prise en charge pluridisciplinaire des déformations du tronc chez l’enfant et l’adolescent polyhandicapé
Prise en charge pluridisciplinaire des déformations du tronc chez l’enfant et l’adolescent polyhandicapé; R. Vialle, A. Dubory, H. Bouloussa, P. Mary, S. Zakine; Archives de Pédiatrie, Volume 21, Issue 5, Supplement 1, May 2014, Pages 149-150, ISSN 0929-693X, http://dx.doi.org/10.1016/S0929-693X(14)71505-2.
Prévalence des scolioses dans l'Ataxie de Friedreich 80%. L’amélioration des techniques chirurgicales, mais d’abord et avant tout réanimatoires, pneumologiques, cardiologiques et anesthésiques, permet de proposer des solutions chirurgicales plus ou moins complexes à un très grand nombre de patients, y compris les plus fragiles.
Prévalence des scolioses dans l'Ataxie de Friedreich 80%. L’amélioration des techniques chirurgicales, mais d’abord et avant tout réanimatoires, pneumologiques, cardiologiques et anesthésiques, permet de proposer des solutions chirurgicales plus ou moins complexes à un très grand nombre de patients, y compris les plus fragiles.
Thursday, July 24, 2014
New results ease previous concerns that gene-editing techniques could add unwanted mutations to stem cells
New results ease previous concerns that gene-editing techniques could add unwanted mutations to stem cells. Medicalnewstoday, Sunday 13 July 2014
The iPSC could be much more than a tool for research, wait and see ...
The researcher says: "doesn't necessarily mean that there are no inherent risks to using stem cells with edited genes, but that the editing process doesn't make the stem cells any less safe."
The iPSC could be much more than a tool for research, wait and see ...
The researcher says: "doesn't necessarily mean that there are no inherent risks to using stem cells with edited genes, but that the editing process doesn't make the stem cells any less safe."
AVANCES EN EL TRATAMIENTO DE LAS ATAXIAS CRÓNICAS-Therapeutic developments in chronic ataxias
AVANCES EN EL TRATAMIENTO DE LAS ATAXIAS CRÓNICAS-Therapeutic developments in chronic ataxias. Buompadre MC.; Medicina (B Aires). 2013;73 Suppl 1:49-54.
Palabras clave: ataxia cerebelosa, tratamiento, agentes antioxidantes, corticoides, vitamina
KEYWORDS: antioxidant agents; cerebellar ataxia; corticosteroid; treatment; vitamin
[Article in Spanish]
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Palabras clave: ataxia cerebelosa, tratamiento, agentes antioxidantes, corticoides, vitamina
KEYWORDS: antioxidant agents; cerebellar ataxia; corticosteroid; treatment; vitamin
[Article in Spanish]
FREE FULL TEXT PDF
Wednesday, July 23, 2014
Genes and Genetic Testing in Hereditary Ataxias
Genes and Genetic Testing in Hereditary Ataxias. Sandford, E.; Burmeister, M.; Genes. 2014; 5(3):586-603.
OPEN ACCESS, FULL TEXT PDF
OPEN ACCESS, FULL TEXT PDF
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