Dystonia is a neurological disorder characterized by involuntary twisting movements and
postures. There are many different clinical manifestations, and many different causes. The …

The hereditary ataxias are a highly heterogeneous group of disorders phenotypically
characterized by gait ataxia, incoordination of eye movements, speech, and hand …

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 …

Autosomal‐dominant spinocerebellar ataxias, autosomal‐recessive spinocerebellar ataxias,
and hereditary spastic paraplegias have traditionally been designated in separate …

Prolonged pausing of the transcription machinery may lead to the formation of three-
stranded nucleic acid structures, called R-loops, typically resulting from the annealing of the …

Mounting evidence suggests that DNA damage plays a central role in aging. Multiple tiers of
defense have evolved to reduce the accumulation of DNA damage, including reducing …

The Autosomal Recessive Cerebellar Ataxias | New England Journal of Medicine Skip to main
content The New England Journal of Medicine homepage Advanced Search SEARCH …

R-loops are cellular structures composed of an RNA/DNA hybrid, which is formed when the
RNA hybridises to a complementary DNA strand and a displaced single-stranded DNA. R …

Background Friedreich's ataxia is a rare autosomal recessive neurodegenerative disorder.
Here we report cross-sectional baseline data to establish the biological and clinical …