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Study of Ubiquitin Pathway Genes in a French Population with Amyotrophic Lateral Sclerosis: Focus on HECW1 Encoding the E3 Ligase NEDL1International Journal of Molecular Sciences, 2023, 24 (2), pp.1268. ⟨10.3390/ijms24021268⟩
Article dans une revue
hal-04541653
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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-03273379
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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-04094651
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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-02443532
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