Nassima Bouzidi

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Stéphanie Bauché, S O’Regan, Yoshiteru Azuma et al. · The American Journal of Human Genetics · 2016 · 91 citations · Full text

Physiology, Episodic Apnea, Congenital Myasthenic Syndrome +1

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of <i>CACNA1F</i> ‐mediated inherited retinal disorders

Christina Zeitz, Christelle Michiels, Marion Neuillé et al. · Human Mutation · 2019 · 30 citations · Full text

Ocular Disease, Genetics, Pathology +21

Identification and characterization of novel TRPM1 autoantibodies from serum of patients with melanoma-associated retinopathy

Juliette Varin, Margaret Reynolds, Nassima Bouzidi et al. · PLoS ONE · 2020 · 28 citations · Full text

Immunology, Immune Regulation, Pathology +16

Substantial restoration of night vision in adult mice with congenital stationary night blindness

Juliette Varin, Nassima Bouzidi, Grégory Gauvain et al. · Molecular Therapy — Methods & Clinical Development · 2021 · 22 citations · Full text

Restoration of mGluR6 Localization Following AAV-Mediated Delivery in a Mouse Model of Congenital Stationary Night Blindness

Juliette Varin, Nassima Bouzidi, Miguel Miranda de Sousa Dias et al. · Investigative Ophthalmology & Visual Science · 2021 · 16 citations · Full text