Saturday, April 15, 2023

Auditory neuropathy in mice and humans with Friedreich ataxia

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Rance, G., Carew, P., Winata, L., Sale, P., Delatycki, M. and Sly, D. (2023), Auditory neuropathy in mice and humans with Friedreich ataxia....
Sunday, April 9, 2023

Butyrate prevents visceral adipose tissue inflammation and metabolic alterations in a mouse model of Friedreich's ataxia

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TURCHI R, SCIARRETTA F, TIBERI M, et al. Butyrate prevents visceral adipose tissue inflammation and metabolic alterations in a mouse model o...
Saturday, April 8, 2023

Skeletal muscle transcriptomics dissects the pathogenesis of Friedreich’s Ataxia

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Elisabetta Indelicato, Alexander Kirchmair, Matthias Amprosi, Stephan Steixner, Wolfgang Nachbauer, Andreas Eigentler, Nico Wahl, Galina Apo...
Thursday, April 6, 2023

Efficiency of a 3-week multicomponent rehabilitation on improving the function in a patient with Friedreich's ataxia: A case report

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Samardžić Vesna; Vojnosanitetski pregled 2023, vol. 80, iss. 2, pp. 182-187. DOI:10.2298/VSP220209027S  We present a 26-year-old female with...
Thursday, March 30, 2023

Gene Suppression Therapies in Hereditary Cerebellar Ataxias: A Systematic Review of Animal Studies

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Santos C, Malheiro S, Correia M, Damásio J. Gene Suppression Therapies in Hereditary Cerebellar Ataxias: A Systematic Review of Animal Studi...

Traitement somatosensoriel proprioceptif et tactile chez les personnes atteintes d’ataxie de Friedreich, une étude d’imagerie par résonance magnétique fonctionnelle

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Virginie Destrebecq, Valérie Martinet, Antonin Rovai, Nicolas Trotta, Gilles Naeije, Traitement somatosensoriel proprioceptif et tactile che...

Clinically meaningful metrics of speech in neurodegenerative disease: Quantification of speech intelligibility and naturalness in ataxia

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Clinically meaningful metrics of speech in neurodegenerative disease: Quantification of speech intelligibility and naturalness in ataxia Ada...

Sequencing through hyperexpanded Friedreich’s ataxia-GAA repeats by nanopore technology: implications in genotype–phenotype correlation

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Bharathram Uppili, Pooja Sharma, Istaq Ahmad, Shweta Sahni, Vivekanand Asokachandran, Anil B Nagaraja, Achal K Srivastava, Mohammed Faruq, S...
Thursday, March 23, 2023

Dimorphic frataxin and its gene regulation by sex steroids in hamsters

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Ramos L. (2023). Dimorphic frataxin and its gene regulation by sex steroids in hamsters. Molecular genetics and genomics : MGG, 10.1007/s004...

Skyclarys' Positive Reception By FDA And Medical Community Bolsters Reata's Future

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Seeking Alpha. Mar. 23, 2023. Reata Pharmaceuticals recently received FDA approval for Skyclarys, the first drug approved to treat Friedre...