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

The fruit fly, Drosophila melanogaster, has been used to understand fundamental principles
of genetics and biology for over a century. Drosophila is now also considered an essential …

Invertebrate model systems are powerful tools for studying human disease owing to their
genetic tractability and ease of screening. We conducted a mosaic genetic screen of lethal …

Summary Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous
distal symmetric polyneuropathy. Whole-exome sequencing (WES) of 40 individuals from 37 …

CLP1 is a RNA kinase involved in tRNA splicing. Recently, CLP1 kinase-dead mice were
shown to display a neuromuscular disorder with loss of motor neurons and muscle paralysis …

Synthetic lethality is a genetic interaction that results in cell death when two genetic
deficiencies co-occur but not when either deficiency occurs alone, which can be co-opted for …

Optic nerve atrophy and hypoplasia can be primary disorders or can result from trans-
synaptic degeneration arising from cerebral visual impairment (CVI). Here we report six …

The apical Par complex, which contains atypical protein kinase C (aPKC), Bazooka (Par-3),
and Par-6, is required for establishing polarity during asymmetric division of neuroblasts in …

Next-generation sequencing has greatly accelerated the discovery of rare human genetic
diseases. Nearly 45% of patients have variants associated with known diseases but the …

Distal hereditary neuropathies and neuro motor diseases are complex neurological
phenotypes associated with pathogenic variants in a large number of genes, but in some the …