Autophagy is a self-catabolic process through which cellular components are delivered to
lysosomes for degradation. There are three types of autophagy, ie, macroautophagy …

Abstract In 2016, the Movement Disorder Society Task Force for the Nomenclature of
Genetic Movement Disorders presented a new system for naming genetically determined …

Stimulator of interferon genes (STING) is an intracellular sensor of cyclic di-nucleotides
involved in the innate immune response against pathogen-or self-derived DNA. STING …

Abstract Purpose of Review The hereditary spastic paraplegias (HSPs) are a group of
disorders characterised by progressive lower limb weakness and spasticity. We address the …

Background Whole-exome sequencing (WES) and whole-genome sequencing (WGS) have
become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there …

Many patients experiencing a rare disease remain undiagnosed even after genomic testing.
Reanalysis of existing genomic data has shown to increase diagnostic yield, although there …

Intricate cerebral cortex formation is orchestrated by the precise behavior and division
dynamics of radial glial cells (RGCs). Endocytosis functions in the recycling and remodeling …

Hereditary spastic paraplegia (HSP) is a group of heterogeneous inherited degenerative
disorders characterized by lower limb spasticity. Fifty percent of HSP patients remain yet …

Hereditary spastic paraplegias (HSPs) are a group of rare neurodegenerative disorders.
HSPs are complex disorders and are clinically and genetically heterogeneous. To date …

Hereditary spastic paraplegia (HSP) is a group of genetic motor neuron diseases resulting
from length-dependent axonal degeneration of the corticospinal upper motor neurons. Due …