Dopa-responsive dystonia (DRD) encompasses a group of clinically and genetically
heterogeneous disorders that typically manifest as limb-onset, diurnally fluctuating dystonia …

Background Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-
shortening disease caused by mutations in the ataxia-telangiectasia mutated gene …

Este artigo analisa a trajetória de construção de políticas públicas para a agricultura familiar
no Brasil, procurando enfatizar as" gerações" ou referenciais de políticas públicas …

The dystonias are a group of disorders defined by specific types of abnormal movements.
The essential feature is overactivity of muscles needed for movement. This overactivity can …

The continuously prolonged human lifespan is accompanied by increase in
neurodegenerative diseases incidence, calling for the development of inexpensive blood …

Ataxia‐telangiectasia is an autosomal recessive neurodegenerative disorder that was
initially thought to present exclusively in childhood. With the discovery of the ATM gene, the …

Recessive ataxias (spinocerebellar ataxias, recessive or SCARs) are a heterogeneous
group of rare, mostly neurodegenerative genetic disorders which usually start in childhood …

Dystonia is a disabling movement disorder characterized by abnormal postures or patterned
and repetitive movements due to co-contraction of muscles in proximity to muscles desired …

There are many rare movement disorders, and new ones are described every year. Because
they are not well recognized, they often go undiagnosed for long periods of time. However …

Ataxia‐telangiectasia is a rare, neurodegenerative, and multisystem disease, characterized
by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive …