Saeed Bohlega

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

Jing Liu, Masashi Aoki, Isabel Illa et al. · Nature Genetics · 1998 · 914 citations

Miyoshi Myopathy, Rare Diseases, Mendelian Disorder +6

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

Anas M. Alazami, Nisha Patel, Hanan E. Shamseldin et al. · Cell Reports · 2014 · 465 citations · Full text

A mutation in sigma‐1 receptor causes juvenile amyotrophic lateral sclerosis

Amr Al‐Saif, Futwan Al‐Mohanna, Saeed Bohlega · Annals of Neurology · 2011 · 419 citations

Mutations in NHLRC1 cause progressive myoclonus epilepsy

Elayne M. Chan, Edwin J. Young, Leonarda Ianzano et al. · Nature Genetics · 2003 · 323 citations

Neurological Disorder, Genetic Disorder, Genetics +3

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

Dorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed et al. · Human Genetics · 2017 · 296 citations · Full text