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GRID1/ GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses
Dévina Ung
,
Ludovic Tricoire
,
Nicolas Pietrancosta
,
Andjela Zlatanovic
,
Ben Pode-Shakked
Article dans une revue
hal-03871407v2
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Study of Ubiquitin Pathway Genes in a French Population with Amyotrophic Lateral Sclerosis: Focus on HECW1 Encoding the E3 Ligase NEDL1
Shanez Haouari
,
Christian Robert Andres
,
Debora Lanznaster
,
Sylviane Marouillat
,
Céline Brulard
Article dans une revue
hal-04541653v1
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Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder
Judith Halewa
,
Sylviane Marouillat
,
Manon Dixneuf
,
Rose‐anne Thépault
,
Dévina C Ung
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 outgrowth
Médéric Jeanne
,
Marie-Laure Vuillaume
,
Dévina Ung
,
Valerie Vancollie
,
Christel Wagner
Article dans une revue
inserm-04094651v1
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Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse
D. Ung
,
G Iacono
,
H Méziane
,
E. Blanchard
,
M-A Papon
Article dans une revue
inserm-02443532v1
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