|
5
|
|
The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.
(link.springer.com)
|
Tibbe D
…
Kreienkamp HJ
Genome Medicine
2026-08-22
|
#genetics
#neurodevelopmental
#rna
#genotype-phenotype
#mutation
|
|
1
|
|
An upstream open reading frame represses translation of the neuronal potassium channel KCNQ2.
(pnas.org)
|
Huey DJ
…
George AL Jr
PNAS
2026-08-18
|
#translation
#epilepsy
#regulation
#neurodevelopmental
#base-editing
|
|
0
|
|
Procognitive restoration of PV neuron plasticity in neurodevelopmental disorders.
(nature.com)
|
Shih YT
…
Sahay A
Nature
2026-08-12
|
#neurodevelopmental
#plasticity
#hippocampus
#cognition
|
|
0
|
|
Individualized antisense oligonucleotide treatment eligibility of patients living with neurodevelopmental diseases.
(linkinghub.elsevier.com)
|
Aartsma-Rus A
…
Schuele R
Cell Reports Medicine
2026-08-13
|
#antisense
#neurodevelopmental
#genetics
#therapy
|
|
0
|
|
Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.
(linkinghub.elsevier.com)
|
Boon M
…
de Vries BBA
American Journal of Human Genetics
2026-08-05
|
#neurodevelopmental
#haploinsufficiency
#rna binding
#intellectual disability
#autism
|
|
0
|
|
Fetal signatures in the 3D genome of iPSC-derived neurons and their implications for disease modeling.
(genome.cshlp.org)
|
Zagirova D
…
Khrameeva E
Genome Research
2026-08-03
|
#chromatin
#neuron
#ipscs
#neurodevelopmental
#disease modeling
|
|
0
|
|
Indirect pathway neurons in the tail of the striatum regulate inhibitory control over sensory driven behavior.
(science.org)
|
Ferrigno SM
…
Fuccillo MV
Science Advances
2026-07-31
|
#basal ganglia
#inhibitory-control
#neurodevelopmental
#striatum
#behavior
|
|
0
|
|
X-linked SYTL4 missense variant disrupts RAB27A-dependent vesicle trafficking and synaptic transmission in autism.
(pnas.org)
|
Liao Y
…
Guo H
PNAS
2026-07-30
|
#autism
#synaptic transmission
#vesicle trafficking
#genetics
#neurodevelopmental
|