Aicardi–Goutières syndrome (AGS) is a rare monogenic autoimmune disease that primarily
affects the brains of children patients. Its main clinical features include encephalatrophy …

The immune response to viral infection involves the recognition of pathogen-derived nucleic
acids by intracellular sensors, leading to type I interferon (IFN), and downstream IFN …

Mitochondria play a pivotal role in numerous cellular processes. One of them is regulation of
the innate immune pathway. In this instance, mitochondria function in two different aspects of …

Objective Dominant spinocerebellar ataxias (SCA) are characterized by genetic
heterogeneity. Some mapped and named loci remain without a causal gene identified. Here …

An 18-year-old man presented with slowly progressive infancy-onset spasticity of the lower
limbs and cerebellar ataxia, associated with painless strabismus, intellectual disability …

Perivascular space burden (PVS) is an emerging and possibly the earliest magnetic
resonance imaging (MRI)-marker of cerebral small vessel disease (cSVD), a leading cause …

Este trabajo ha sido realizado con un contrato de personal investigador predoctoral en
formación para el periodo 2018-2022 del Gobierno de Aragón, cofinanciado por el …

Las enfermedades mitocondriales son un conjunto de desórdenes metabólicos y genéticos
en que, sobre todo, se encuentra comprometida la fosforilación oxidativa de las …