Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic
disorders with autosomal dominant inheritance. We aim to provide an update on the recent …

The dominantly inherited spinocerebellar ataxias (SCAs) are a large and diverse group of
neurodegenerative diseases. The most prevalent SCAs (SCA1, SCA2, SCA3, SCA6 and …

The system of assigning locus symbols to specify chromosomal regions that are associated
with a familial disorder has a number of problems when used as a reference list of …

Desaturase and elongase-limiting endogenous long-chain polyu... : Current Opinion in Clinical
Nutrition & Metabolic Care Desaturase and elongase-limiting endogenous long-chain …

Elongation of Very Long chain fatty acids-4 (ELOVL4) protein is a member of the ELOVL
family of fatty acid elongases that is collectively responsible for catalyzing formation of long …

Advances in human genetics in recent years have largely been driven by next-generation
sequencing (NGS); however, the discovery of disease-related gene mutations has been …

The autosomal dominant cerebellar ataxias, referred to as spinocerebellar ataxias in genetic
nomenclature, are a rare group of progressive neurodegenerative disorders characterized …

Autosomal dominant cerebellar ataxias have a marked heterogeneous genetic background,
with mutations in 34 genes identified so far. This large amount of implicated genes accounts …

Background Neurodegenerative cerebellar ataxias represent a group of disabling disorders
for which we currently lack effective therapies. Cerebellar transcranial direct current …

Objective To investigate whether a 2-week treatment with cerebellar anodal and spinal
cathodal transcranial direct current stimulation (tDCS) could reduce symptoms in patients …