News

The New England Journal of Medicine12y
Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination
The combination of ataxia and hypogonadism was first described ... of combining individual whole-exome sequencing with in vivo functional studies to identify disease-causing gene mutations and ...
The New York Times8mon
DR. DENSLOW'S REPLY ON HIS DISCOVERY; Thinks Those Who Criticised Might Have Waited to Read His Address. ORGANIC ATAXIA HELPED Not One of the Cases Described Was of the ...
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Monthly Prescribing Reference4mon
Troriluzole Priority Review Granted for Spinocerebellar Ataxia
The primary endpoint was the change from baseline in the modified functional Scale for the Assessment and Rating of Ataxia (f-SARA). Findings showed troriluzole statistically significantly ...
Nature1y
Functional link of BRCA1 and ataxia telangiectasia gene product in DNA damage response
Figure 1: IR-induced phosphorylation of CtIP is ATM dependent. Figure 2: Identification of ATM phosphorylation sites on CtIP. Figure 3: Phosphorylation of CtIP by ATM is essential for dissociation ...
Business Wire4mon
Cure Rare Disease Awarded $5.69 Million CIRM Grant to Advance Gene Therapy for Spinocerebellar Ataxia Type 3
In 2022 and 2023, in collaboration with Leiden University Medical Center and the Cure Rare Disease team, several in vivo studies were conducted in a disease mouse model, demonstrating functional ...
Business Wire8mon
Papillon Therapeutics Receives Rare Pediatric Disease Designation from the U.S. Food and Drug Administration for PPL-001 for the Treatment of Friedreich's Ataxia
About Friedreich’s Ataxia Friedreich's ataxia is a rare ... The company’s technology platform enables durable expression of functional protein throughout the body. Papillon was established ...
The American Journal of Managed Care1y
Recent Advances in Friedreich Ataxia Management
Friedreich ataxia (FA) is a rare, hereditary neurodegenerative disease that causes difficulties with coordination and balance and reduces lifespan. The disease affects approximately 1 in 50,000 ...