Friedreich Ataxia Scientific News

Friedreich Ataxia and close related scientific news. Topics related to rare diseases.

Wednesday, January 18, 2023

Form S-1/A JUPITER NEUROSCIENCES

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As filed with the U.S. Securities and Exchange Commission on January 17, 2023.  JOTROL™ is a micellar non-aqueous solution of resveratrol de...
Monday, January 16, 2023

Neurobehavioral deficits of mice expressing a low level of G127V mutant frataxin

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Daniel Fil, Robbie L. Conley, Aamir R. Zuberi, Cathleen M. Lutz, Terry Gemelli, Marek Napierala, Jill S. Napierala; Neurobiology of Disease,...

Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes

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Pilar Garces, Chrystalina A. Antoniades, Anna Sobanska, Norbert Kovacs, Sarah H. Ying, Anoopum S. Gupta, Susan Perlman, David J. Szmulewicz,...
Sunday, January 15, 2023

Ketolysis is Required for the Proper Development and Function of the Somatosensory Nervous System

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Jonathan Enders, Jarrid Jack, Sarah Thomas, Paige Lynch, Sarah Lasnier, Xin Cao, M Taylor Swanson, Janelle M Ryals, John P Thyfault, Patrycj...
Saturday, January 14, 2023

FXN gene methylation determines carrier status in Friedreich ataxia

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Lam C, Gilliam KM, Rodden LN, Schadt KA, Lynch DR, Bidichandani S.; J Med Genet. 2023 Jan 12:jmedgenet-2022-108742. doi: 10.1136/jmg-2022-10...
Tuesday, January 10, 2023

Prime Medicine (PRME) Announces Recent Progress and Highlights 2023 Strategic Priorities

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January 9, 2023; “Today, we are pleased to announce accomplishments across our portfolio and platform, including new preclinical proof-of-co...
Sunday, January 8, 2023

S-Glutathionylation and S-Nitrosylation in Mitochondria: Focus on Homeostasis and Neurodegenerative Diseases

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Vrettou S, Wirth B.; International Journal of Molecular Sciences. 2022 Dec;23(24):15849. DOI: 10.3390/ijms232415849. PMID: 36555492; PMCID: ...

ODs with a positive TPR conclusion, not subject to a conditional approval, and approved without requering a pass would be more likely to be reimbursed in Spain

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José Luis Poveda, Claudia Gómez, Alicia Gil & Xavier Badia; Orphanet J Rare Dis 18, 4 (2023). doi:10.1186/s13023-022-02610-4  This study...

Open Innovation for an Inclusive Labor Market for University Students with Disabilities

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Espada-Chavarria, R.; Diaz-Vega, M.; González-Montesino, R.H.; J. Open Innov. Technol. Mark. Complex. 2021, 7, 217. doi:10.3390/joitmc704021...
Saturday, January 7, 2023

Iron-frataxin involved in the protective effect of quercetin against alcohol-induced liver mitochondrial dysfunction

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Liu J, Chen H, Lin H, Peng S, Chen L, Cheng X, Yao P, Tang Y.; J Nutr Biochem. 2022 Dec 29:109258. doi: 10.1016/j.jnutbio.2022.109258. Epub...
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