Much of the mammalian genome is transcribed, generating long non-coding RNAs
(lncRNAs) that can undergo post-transcriptional surveillance whereby only a subset of the …

Neurodegeneration is a major cause of Alzheimer's, Parkinson's, Huntington's, multiple and
amyotrophic lateral sclerosis, pontocerebellar hypoplasia, dementia and other related brain …

Background Pontocerebellar hypoplasia (PCH) describes a rare, heterogeneous group of
neurodegenerative disorders mainly with a prenatal onset. Patients have severe hypoplasia …

The cerebellum is one of the best studied parts of the brain. The cerebellar cortex is
composed of four main types of neurons: granule cells, Purkinje cells, and two types of …

Advances in genetic technology are having a major impact in the clinic, and mean that many
perceptions of the role and scope of genetic testing are having to change. Genomic testing …

The RNA exosome is an evolutionarily conserved, ribonuclease complex that is critical for
both processing and degradation of a variety of RNAs. Cofactors that associate with the RNA …

Objective Rare genetic disorders resulting in prenatal or neonatal death are genetically
heterogeneous, but testing is often limited by the availability of fetal DNA, leaving couples …

The exosome is a conserved multi-protein complex that is essential for correct RNA
processing. Recessive variants in exosome components EXOSC3, EXOSC8, and RBM7 …

The evolutionarily conserved RNA exosome is a multisubunit ribonuclease complex that
processes and/or degrades numerous RNAs. Recently, mutations in genes encoding both …

Pontocerebellar hypoplasia (PCH) is a clinically and genetically heterogeneous group of
autosomal recessively inherited neurodevelopmental disorders. Following the rapidly …