The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal
dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance …

Approximately 25-50 million Americans, 30 million Europeans, and 8% of the Australian
population have a rare disease. Rare diseases are thus a common problem for clinicians …

Chronic pain is highly prevalent worldwide and represents a significant socioeconomic and
public health burden. Several aspects of chronic pain, for example back pain and a severity …

Background Given the rarity of most single-gene Mendelian disorders, concerted efforts of
data exchange between clinical and scientific communities are critical to optimize molecular …

Atrial fibrillation is the most common cardiac arrhythmia and leads to stroke. To investigate
genetic loci associated with atrial fibrillation in the Japanese population, we performed a …

In the human genome more than 400 genes encode ion channels, which are
transmembrane proteins mediating ion fluxes across membranes. Being expressed in all …

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

Intensive scientific research devoted in the recent years to understand the molecular
mechanisms or neurodegeneration in spinocerebellar ataxias (SCAs) are identifying new …

Evidence accumulated over recent years has shown that genetic neurological
channelopathies can cause many different neurological diseases. Presentations relating to …

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 …