Breast cancer (BC) is one of the most common cancers among women worldwide,
representing the majority of new cancer cases and cancer-related deaths according to …

Friedreich ataxia (FRDA) is an autosomal-recessive disorder characterized by progressive
neurological and cardiac abnormalities. It predominantly affects individuals of European and …

Friedreichʼs ataxia (FA) is caused by a variant of the Frataxin (FXN) gene, leading to its
downregulation and progressively impaired cardiac and neurological function. Current gold …

Background Heterozygous GAA expansions in the FGF14 gene have been related to
autosomal dominant cerebellar ataxia (SCA27B‐MIM: 620174). Whether they represent a …

Objective To delineate the full phenotypic spectrum, discriminative features, piloting
longitudinal progression data, and sample size calculations of replication factor complex …

Objective Previous studies have demonstrated that suppression of Nrf2 in Friedreich ataxia
tissues contributes to excess oxidative stress, mitochondrial dysfunction, and reduced ATP …

Autosomal-recessive cerebellar ataxias (ARCAs) comprise a heterogeneous group of rare
degenerative and metabolic genetic diseases that share the hallmark of progressive …

Background We assessed the clinimetric properties of ataxia rating scales and functional
tests, and made recommendations regarding their use. Methods A systematic literature …

Cerebellar and afferent ataxias present with a characteristic gait disorder that reflects
cerebellar motor dysfunction and sensory loss. These disorders are a diagnostic challenge …

Objective To foster trial‐readiness of coenzyme Q8A (COQ8A)‐ataxia, we map the
clinicogenetic, molecular, and neuroimaging spectrum of COQ8A‐ataxia in a large …