Devina C. Ung
Tours, 37032, France
Last Updated: 09/26/2026
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Found 9 publications
The PTCHD1 protein: A prominent actor in brain function and in neurodevelopmental disorders.
Journal: Neuroscience and biobehavioral reviews
Published: May 02, 2025
Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2.
Journal: American journal of medical genetics. Part A
Published: February 25, 2025
Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro.
Journal: Molecular psychiatry
Published: September 16, 2024
Contribution of the dihydropyrimidinase-like proteins family in synaptic physiology and in neurodevelopmental disorders.
Journal: Frontiers in neuroscience
Published: January 30, 2023
Study of Ubiquitin Pathway Genes in a French Population with Amyotrophic Lateral Sclerosis: Focus on HECW1 Encoding the E3 Ligase NEDL1.
Journal: International journal of molecular sciences
Published: November 23, 2022
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses.
Journal: Molecular psychiatry
Published: June 09, 2022
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.
Journal: Human mutation
Published: December 18, 2020
Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.
Journal: Human genetics
Published: July 17, 2020
Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse.
Journal: Molecular psychiatry
Published: October 06, 2016
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Last Updated: 09/26/2026