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...
Wednesday, March 22, 2023

Assessment of Hepatic Safety in Patients with Friedreich’s Ataxia in the MOXIe Trial of Omaveloxolone

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S.H. Subramony, MD, University of Florida Health System, David Lynch, MD, PhD, Children's Hospital of Philadelphia, Martin Delatycki, MD...

Assessment of Cardiac Safety in Patients with Friedreich’s Ataxia in the MOXIe Trial of Omaveloxolone

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S.H. Subramony, MD, University of Florida Health System, David Lynch, MD, PhD, Children's Hospital of Philadelphia, Martin Delatycki, MD...
Monday, March 20, 2023

Ataxia Scales for the Clinical Evaluation

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Bürk, K. (2023). Ataxia Scales for the Clinical Evaluation. In: Gruol, D.L., Koibuchi, N., Manto, M., Molinari, M., Schmahmann, J.D., Shen, ...