Friday, November 8, 2024

frataxin is essential for zebrafish embryogenesis and pronephros formation

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frataxin is essential for zebrafish embryogenesis and pronephros formation. Wesley S. Ercanbrack, Austin Dungan, Ella Gaul, Mateo Ramirez, R...

PTC Therapeutics Provides Corporate Update and Reports Third Quarter 2024 Financial Results

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WARREN, N.J., Nov. 7, 2024 /PRNewswire/ -- PTC Therapeutics, Inc. "We continue to achieve excellent revenue performance allowing us to ...

Design Therapeutics Announces Third Quarter 2024 Financial Results and Reviews Near-term Milestones for GeneTACTM Portfolio

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CARLSBAD, Calif., Nov. 07, 2024 (GLOBE NEWSWIRE) Friedreich Ataxia (FA) Design is on track to initiate the Phase 1 single ascending dose, no...

Abnormal visual cortex activity using functional magnetic resonance imaging in treatment resistant photophobia in Friedreich Ataxia

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Araliya N. Gunawardene, Nicholas Reyes, David Valdes-Arias, Alpen Ortug, Jaime Martinez, Anat Galor, Eric A. Moulton, Abnormal visual cortex...
Tuesday, November 5, 2024

Differential Gene Expression in Late-Onset Friedreich Ataxia: A Comparative Transcriptomic Analysis Between Symptomatic and Asymptomatic Sisters

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Petrillo, S.; Perna, A.; Quatrana, A.; Silvestri, G.; Bertini, E.; Piemonte, F.; Santoro, M. Differential Gene Expression in Late-Onset Frie...

Navigating the Orphan Medicinal Product Designation: Evidence Requirements for Gene Therapies in Europe

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Palomo, G.M. et al., Navigating the Orphan Medicinal Product Designation: Evidence Requirements for Gene Therapies in Europe. Molecular Th...

At-home wearable-based monitoring predicts clinical measures and biological biomarkers of disease severity in Friedreich’s Ataxia

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Mishra, R.K., Nunes, A.S., Enriquez, A. et al. At-home wearable-based monitoring predicts clinical measures and biological biomarkers of dis...

Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia

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Sperelakis-Beedham, B., Gitiaux, C., Rajaoba, M. et al. Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia. Eur J H...
Monday, October 28, 2024

Utility of Optical Genome Mapping in Repeat Disorders

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Mutlu MB, Karakaya T, Çelebi HBG, Duymuş F, Seyhan S, Yılmaz S, Yiş U, Atik T, Yetkin MF, Gümüş H. Utility of Optical Genome Mapping in Repe...
Sunday, October 27, 2024

Design and validation of cell-based potency assays for frataxin supplementation treatments

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Design and validation of cell-based potency assays for frataxin supplementation treatments; Shibani Mukherjee, Larisa Pereboeva, Daniel Fil,...