Julian Theuriet

OverviewAI-generated summary

Dr. Julian Theuriet's research focuses on the genetic underpinnings and clinical manifestations of neurogenetic and muscular disorders. His work spans a range of hereditary neurological conditions, with a particular interest in the role of mitochondrial function and cellular transport mechanisms in disease pathology. Dr. Theuriet's investigations extend to both congenital and acquired conditions, as evidenced by publications examining congenital myasthenic syndromes and immune-mediated neuropathies. Recent work includes the identification of a novel genetic cause for distal hereditary motor neuropathy linked to a homozygous *COQ7* mutation, as well as studies of severe congenital myasthenic syndromes resulting from agrin mutations. Theuriet's broader research interests encompass neurological diseases, metabolism, and the involvement of the peripheral nervous system in central nervous system disorders.

Metrics

• h-index: 7
• Publications: 29
• Citations: 127