Friday, December 15, 2023

Skyclarys* (omaveloxolone) received a positive opinion from the CHMP for the treatment of Friedreich’s ataxia

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Meeting highlights from the Committee for Medicinal Products for Human Use (CHMP) 11-14 December 2023. Skyclarys* (omaveloxolone) received a...
Monday, December 11, 2023

Lexeo Therapeutics Reports Third Quarter 2023 Financial Results and Operational Highlights

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NEW YORK, Dec. 11, 2023 (GLOBE NEWSWIRE) --LEXEO Therapeutics, Inc..Received clearance of LX2006 Clinical Trial Application (CTA) in Canada ...
Saturday, December 9, 2023

Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort

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Lynch, D.R., Rojsajjakul, T., Subramony, S.H. et al. Frataxin analysis using triple quadrupole mass spectrometry: application to a large het...

Impact of specialist ataxia centres on health service resource utilisation and costs across Europe: cross-sectional survey

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Morris, S., Vallortigara, J., Greenfield, J. et al. Impact of specialist ataxia centres on health service resource utilisation and costs acr...

Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain

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Davide D, Federica C, Marco B, Elisa B, Silvia M, Giulia T, Federica D, Ottaviani D, Elena M, Luigi L, Elisa G, Elena Z, Antonella R, Milena...
Friday, December 8, 2023

Clinical stage and plasma neurofilament concentration in adults with Friedreich ataxia

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Magnus Johnsson, Henrik Zetterberg, Kaj Blennow, Christopher Lindberg, Clinical stage and plasma neurofilament concentration in adults with ...
Wednesday, December 6, 2023

Intensive Multimodal Treatment for A Young Adult with Friedreich Ataxia: A Case Report

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Grace Battal, Nicolas Pinsault, Berthe Hanna-Boutros. Intensive Multimodal Treatment for A Young Adult with Friedreich Ataxia: A Case Report...
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:...