Miyoshi myopathy (MM) is an adult onset, recessive inherited distal muscular dystrophy that
we have mapped to human chromosome 2p13. We recently constructed a 3-Mb P1-derived …

Our knowledge of disease genes in neurological disorders is incomplete. With the aim of
closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous …

Objective: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized
by loss of motor neurons in the brain and spinal cord, leading to muscle weakness and …

Lafora progressive myoclonus epilepsy is characterized by pathognomonic endoplasmic
reticulum (ER)-associated polyglucosan accumulations. We previously discovered that …

Neuro-Behçet’s disease (NBD) is one of the more serious manifestations of Behçet’s
disease (BD), which is a relapsing inflammatory multisystem disease with an interesting …

In this study, we report the experience of the only reference clinical next-generation sequencing
lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected …

We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished
Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed …

BACKGROUND AND PURPOSE: Manifestation of nervous system involvement by
neurobrucellosis, a treatable infection, is not well documented. We investigated patterns of nervous …

Objective To study the presentation of Behçet's disease (BD) in the Saudi population and to
determine any differences in clinical manifestation and prognosis between men and women. …

Chorea-acanthocytosis (ChAc) is an autosomal recessive neurological disorder whose
characteristic features include hyperkinetic movements and abnormal red blood cell morphology. …