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 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 ...

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 ...

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 ...

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 ...

“Cardiac dysfunction is the leading cause of death for people with FA, and the clinical and functional improvements we’ve observed across these studies could be transformational to the ...

Spinocerebellar Ataxia (SCA) is a rare ... who are suffering relentless and irreversible functional decline including impairments in coordination and balance leading to falls, loss of ambulation ...