During the last two to three decades, a large body of work has revealed the molecular basis
of many human disorders, including retinal and vitreoretinal degenerations and …

The neuronal ceroid lipofuscinoses (NCLs) are clinically and genetically heterogeneous
neurodegenerative disorders. Most are autosomal recessively inherited. Clinical features …

Genome sequencing is often pivotal in the diagnosis of rare diseases, but many of these
conditions lack specific treatments. We describe how molecular diagnosis of a rare, fatal …

In 2008, we published the first set of guidelines for standardizing research in autophagy.
Since then, this topic has received increasing attention, and many scientists have entered …

Purpose: Epilepsies have a highly heterogeneous background with a strong genetic
contribution. The variety of unspecific and overlapping syndromic and nonsyndromic …

In childhood the neuronal ceroid lipofuscinoses (NCL) are the most frequent lysosomal
diseases and the most frequent neurodegenerative diseases but, in adulthood, they …

Identifying the underlying causes of disease requires accurate interpretation of genetic
variants. Current methods ineffectively capture pathogenic non-coding variants in genic …

Lysosomes play fundamental roles in material digestion, cellular clearance, recycling,
exocytosis, wound repair, Ca2+ signaling, nutrient signaling, and gene expression …

The aim of this retrospective study was to determine the prevalence of lysosomal storage
disorders (LSDs) in the Czech Republic. The data on cases diagnosed between 1975 and …

Retinitis pigmentosa (RP) is an inherited degenerative disease causing severe retinal
dystrophy and visual impairment mainly with onset in infancy or adolescence. Targeted next …