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GRID1/ GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapsesMolecular Psychiatry, 2024, ⟨10.1038/s41380-024-02469-w⟩
Article dans une revue
hal-03871407v2
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Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorderHuman Mutation, 2021, 42 (7), pp.848 - 861. ⟨10.1002/humu.24208⟩
Article dans une revue
inserm-03273379v1
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Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowthHuman Genetics, 2021, 140 (6), pp.885-896. ⟨10.1007/s00439-020-02252-1⟩
Article dans une revue
inserm-04094651v1
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Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouseMolecular Psychiatry, 2018, 23 (5), pp.1356-1367. ⟨10.1038/mp.2017.39⟩
Article dans une revue
inserm-02443532v1
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