Saturday, December 2, 2023

A modified mouse model of Friedreich's ataxia with conditional Fxn allele homozygosity delays onset of cardiomyopathy

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A modified mouse model of Friedreich's ataxia with conditional Fxn allele homozygosity delays onset of cardiomyopathy; Tyler L Perfitt, ...

Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?

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Aguilera, C., Esteve-Garcia, A., Casasnovas, C. et al. Novel intragenic deletion within the FXN gene in a patient with typical phenotype of ...
Monday, November 27, 2023

Health-Related Quality of Life in Patients with Inherited Ataxia in Ireland

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Menon, P.J., Yi, T.X., Moran, S. et al. Health-Related Quality of Life in Patients with Inherited Ataxia in Ireland. Cerebellum (2023). doi:...
Saturday, November 25, 2023

Loss of homeostatic functions in microglia from a murine model of Friedreich's ataxia

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Ilaria Della Valle, Martina Milani, Simona Rossi, Riccardo Turchi, Flavia Tortolici, Valentina Nesci, Alberto Ferri, Cristiana Valle, Daniel...
Wednesday, November 15, 2023

Effectiveness of rehabilitation intervention in persons with Friedreich ataxia

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Paparella G, Stragà C, Vavla M, Pesenti N, Merotto V, Martorel GA, Zalunardo S, Armellin M, Comiotto J and Martinuzzi A (2023) Effectiveness...

The Cardiac Calcium Handling Machinery is Remodeled in Friedreich's Ataxia

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The Cardiac Calcium Handling Machinery is Remodeled in Friedreich's Ataxia, Roman Czornobil, Obada Abou- Assali, Elizabeth Remily- Wood,...
Tuesday, November 14, 2023

Aspectos médico-legales del consentimiento en la nueva regulación de la eutanasia. A propósito de un caso

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Fernández Resina, Laura, Repositorio Institucional UIB, Treballs dels estudiants, TFG, Facultat de Medicina, Grau en Medicina (GMED). Fecha:...
Friday, November 10, 2023

Emerging small molecule inhibitors of Bach1 as therapeutic agents: Rationale, recent advances, and future perspectives

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Hushpulian DM, Kaidery NA, Dutta D, Sharma SM, Gazaryan I, Thomas B. Emerging small molecule inhibitors of Bach1 as therapeutic agents: Rati...
Wednesday, November 8, 2023

Ataxia de Friedreich, revisión y actualización de la literatura con búsqueda sistemática de casos en Latinoamérica

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Alfaro-Olivera, María, Calle-Nuñez, Adriana, Uribe-León, Alfonso, Araujo-Aliaga, Ismael, Aguirre-Quispe, Wilfor, Sarapura-Castro, Elison, ...

Thermodynamic Stabilization of Human Frataxin

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Thermodynamic Stabilization of Human Frataxin. Reyes Núñez-Franco, Angel Torres-Mozas, Claudio D. Navo, Andreas Schedlbauer, Mikel Azkargort...