Recent advances in sequencing technologies and collaborative efforts have led to
substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS) …

Gangliosides are glycosphingolipids highly abundant in the nervous system, and carry most
of the sialic acid residues in the brain. Gangliosides are enriched in cell membrane …

Global insights into cellular organization and genome function require comprehensive
understanding of the interactome networks that mediate genotype–phenotype relationships …

Alternative splicing (AS) is pervasive in mammalian genomes, yet cross-species
comparisons have been largely restricted to adult tissues and the functionality of most AS …

Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disorder with the
predominant clinical manifestation of spasticity in the lower extremities. HSP is categorised …

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

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

Selective autophagy of organelles is critical for cellular differentiation, homeostasis, and
organismal health. Autophagy of the ER (ER-phagy) is implicated in human neuropathy but …

Abstract The Greater Middle East (GME) has been a central hub of human migration and
population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf …

Gene networks are rapidly growing in size and number, raising the question of which
networks are most appropriate for particular applications. Here, we evaluate 21 human …