Friedreich Ataxia Scientific News
Friedreich Ataxia and close related scientific news. Topics related to rare diseases.
Friday, March 9, 2018
Molecular genetic testing for hereditary ataxia-What every neurologist should know
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Stephanie E. Wallace, Thomas D. Bird Neurology: Clinical Practice Feb 2018, 8 (1) 27-32; DOI: 10.1212/CPJ.0000000000000421 The majority of...
Thursday, March 8, 2018
In the Clinic-Cerebellar Ataxia: How to Treat Cerebellar Ataxia — What the AAN Evidence-Based Guideline Suggests
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Samson, Kurt. Neurology Today: March 8, 2018 - Volume 18 - Issue 5 - p 34–36 doi: 10.1097/01.NT.0000531206.29854.dd A systematic review of...
Channelopathies influence on neurotransmitters monitorable by real time in situ voltammetry, a review and research proposal
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Crespi F (2018). Med Clin Arch 2: DOI: 10.15761/MCA.1000128 It has been observed that 5-hydroxytryptophan, serotonin precursor, is more ef...
Iron–sulfur clusters: from metals through mitochondria biogenesis to disease
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Cardenas-Rodriguez, M., Chatzi, A. & Tokatlidis, K. J Biol Inorg Chem (2018). doi:10.1007/s00775-018-1548-6 Frataxin is involved in F...
Friedreich Ataxia Scientific News: Monthly update: February 7- March 8, 2018
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Friedreich Ataxia Scientific News Monthly update: February 7- March 8, 2018 Thursday, March 8, 2018 Small RNA-seq analysis...
Small RNA-seq analysis of circulating miRNAs to identify phenotypic variability in Friedreich’s ataxia patients
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Marta Seco-Cervera, Dayme González-Rodríguez, José Santiago Ibáñez-Cabellos, Lorena Peiró-Chova, Federico V Pallardó & José Luis García-...
Wednesday, March 7, 2018
Therapeutic Potential of NAD-Boosting Molecules: The In Vivo Evidence
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Luis Rajman, Karolina Chwalek, David A. Sinclair, Cell Metabolism, Volume 27, Issue 3, 6 March 2018, Pages 529-547, ISSN 1550-4131, doi:10.1...
Friedreich Ataxia: Clinical Report of an Uncommon Point Mutation (R165C)
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Rosa María García Tercero*, Javier Gualda Heras, Catalina Diaz Urrea, Pedro Barredo Benitez, Adolfo Heras Pérez, Fátima López González, Blan...
Friday, March 2, 2018
Neuroimagem na ataxia de Friedreich = novas abordagens e aplicações clínicas = Neuroimaging in Friedreich's ataxia = new approaches and clinical aplication
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Rezende, Thiago Junqueira Ribeiro de; Advisor: França Junior, Marcondes Cavalcante. TESE DIGITAL (2017)(POR) Abstract: Friedreich¿s ataxi...
Iron Sulfur and Molybdenum Cofactor Enzymes Regulate the Drosophila Life Cycle by Controlling Cell Metabolism
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Marelja Z, Leimkühler S and Missirlis F (2018); Front. Physiol. 9:50. doi: 10.3389/fphys.2018.00050 Despite general agreement that fratax...
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