Nicolas Auger

Herpes zoster ophthalmoplegia. Report of six cases.

Philippe Archambault, J Wise, Jeffrey S. Rosen et al. · PubMed · 1988 · 36 citations

Ocular Disease, Ophthalmology, Optic Neuropathy +9

<i>NPTX1</i> mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia

Marie Coutelier, Maxime Jacoupy, Alexandre Janer et al. · Brain · 2021 · 27 citations · Full text

Exome Sequencing, Genetics, Disease Gene Identification +16

Heterozygous <scp><i>PNPT1</i></scp> Variants Cause Spinocerebellar Ataxia Type 25

Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi et al. · Annals of Neurology · 2022 · 25 citations · Full text

Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia

Ashraf Yahia, Liena E. O. Elsayed, Rémi Valter et al. · Frontiers in Neurology · 2021 · 10 citations · Full text