Michaël Nicouleau

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Holly A.F. Stessman, Marjolein H. Willemsen, Michaela Fencková et al. · The American Journal of Human Genetics · 2016 · 162 citations · Full text

Neurodevelopmental Disorders, Down Syndrome, Intellectual Impairment +13

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

Isabelle Perrault, Sylvain Hanein, Xavier Zanlonghi et al. · Nature Genetics · 2012 · 144 citations

Ocular Disease, Mendelian Disorder, Ophthalmology +8

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

Jean Chemin, Karine Siquier-Pernet, Michaël Nicouleau et al. · Brain · 2018 · 104 citations · Full text

Neurodevelopmental Disorders, Channelopathies, Cerebellar Atrophy +15

Midbrain organoids with an <i>SNCA</i> gene triplication model key features of synucleinopathy

Nguyen‐Vi Mohamed, Julien Sirois, Janani Ramamurthy et al. · Brain Communications · 2021 · 72 citations · Full text

High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect

Daniel Medina-Cano, Ekin Ucuncu, Lam Son Nguyen et al. · eLife · 2018 · 58 citations · Full text