Search details
1.
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses.
Mol Psychiatry
; 2024 Feb 28.
Article
in English
| MEDLINE | ID: mdl-38418578
2.
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.
Hum Mutat
; 42(7): 848-861, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33856728
3.
Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.
Hum Genet
; 140(6): 885-896, 2021 Jun.
Article
in English
| MEDLINE | ID: mdl-33417013
4.
Contribution of the dihydropyrimidinase-like proteins family in synaptic physiology and in neurodevelopmental disorders.
Front Neurosci
; 17: 1154446, 2023.
Article
in English
| MEDLINE | ID: mdl-37144098
5.
Developmental and Behavioral Phenotypes in a Mouse Model of DDX3X Syndrome.
Biol Psychiatry
; 90(11): 742-755, 2021 12 01.
Article
in English
| MEDLINE | ID: mdl-34344536
Results
1 -
5
de 5
1
Next >
>>