Axonal transport is essential for neuronal function, and many neurodevelopmental and
neurodegenerative diseases result from mutations in the axonal transport machinery …

After having been disregarded for a long time as inert fat drops, lipid droplets (LDs) are now
recognized as ubiquitous cellular organelles with key functions in lipid biology and beyond …

In addition to commonly associated environmental factors, genomic factors may cause
cerebral palsy. We performed whole-exome sequencing of 250 parent–offspring trios, and …

Amyotrophic lateral sclerosis (ALS) is a late-onset neurodegenerative disorder resulting
from motor neuron death. Approximately 10% of cases are familial (FALS), typically with a …

Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC)(N=
2,591 families) replicates prior findings of strong association with autism spectrum disorders …

During the past decade enormous advances have been made in our understanding of the
basic molecular machinery that is involved in the development of neuronal polarity. Far from …

Objective Hereditary spastic paraplegias (HSPs) are genetically driven disorders with the
hallmark of progressive spastic gait disturbance. To investigate the phenotypic spectrum …

Neurons depend on the highly dynamic microtubule (MT) cytoskeleton for many different
processes during early embryonic development including cell division and migration …

Intracellular trafficking of cargoes is an essential process to maintain the structure and
function of all mammalian cell types, but especially of neurons because of their extreme …

Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous
neurological disorders characterized by pathophysiologic hallmark of length-dependent …