Julian Theuriet

Homozygous <i>COQ7</i> mutation: a new cause of potentially treatable distal hereditary motor neuropathy

Arnaud Jacquier, Julian Theuriet, Fanny Fontaine et al. · Brain · 2022 · 27 citations · Full text

Life Sciences, Genetics, Neurology +16

Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis

Julian Theuriet, Marion Masingue, Anthony Béhin et al. · Brain · 2024 · 18 citations · Full text

Medicine, Genetics, Neurology +15

Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons

Arnaud Jacquier, Valérie Risson, Thomas Simonet et al. · Acta Neuropathologica · 2022 · 14 citations · Full text

Life Sciences, Genetics, Neuroscience +14

Peripheral nervous system involvement accompanies central nervous system involvement in anti-glial fibrillary acidic protein (GFAP) antibody-related disease

Julian Theuriet, Florent Cluse, Alice Gravier-Dumonceau et al. · Journal of Neurology · 2023 · 14 citations · Full text

Medicine, Neurology, Neuroscience +13

Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy

Gorka Fernández‐Eulate, Julian Theuriet, Christopher J. Record et al. · Neurology Genetics · 2023 · 12 citations · Full text

Medicine, Genetics, Neurology +17