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

Holly A.F. Stessman, Marjolein H. Willemsen, Michaela Fencková, +48

The American Journal of Human Genetics

Neurodevelopmental DisordersDown SyndromeIntellectual ImpairmentDevelopmental DisabilityAutism Spectrum Disorders +11

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

Isabelle Perrault, Sylvain Hanein, Xavier Zanlonghi, +20

Nature Genetics

Ocular DiseaseMendelian DisorderOphthalmologyGenetic DisorderMedicine +6

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, +26

Brain

Neurodevelopmental DisordersChannelopathiesCerebellar AtrophyDevelopmental BiologyMendelian Disorder +13

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

Nguyen‐Vi Mohamed, Julien Sirois, Janani Ramamurthy, +20

Brain Communications

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, +10

eLife

A streamlined CRISPR workflow to introduce mutations and generate isogenic iPSCs for modeling amyotrophic lateral sclerosis

Éric Deneault, Mathilde Chaineau, Michaël Nicouleau, +8

Methods

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

Hisham Megahed, Michaël Nicouleau, Giulia Barcia, +13

Orphanet Journal of Rare Diseases

Identification of amyloid beta in small extracellular vesicles <i>via</i> Raman spectroscopy

Meruyert Imanbekova, Sorina Suarasan, Tatu Rojalin, +10

Nanoscale Advances

Transcriptional Dysregulation and Impaired Neuronal Activity in FMR1 Knock-Out and Fragile X Patients’ iPSC-Derived Models

Gilles Maussion, Cecilia Rocha, Narges Abdian, +19

International Journal of Molecular Sciences

An adapted protocol to derive microglia from stem cells and its application in the study of CSF1R-related disorders

Marie‐France Dorion, Diana Casas, Irina Shlaifer, +22

Molecular Neurodegeneration