Detalhe da pesquisa
1.
Role of CAMK2D in neurodevelopment and associated conditions.
Am J Hum Genet
; 111(2): 364-382, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38272033
2.
RHEB/mTOR hyperactivity causes cortical malformations and epileptic seizures through increased axonal connectivity.
PLoS Biol
; 19(5): e3001279, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34038402
3.
GHB analogs confer neuroprotection through specific interaction with the CaMKIIα hub domain.
Proc Natl Acad Sci U S A
; 118(31)2021 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34330837
4.
Running in the FAMILY: understanding and predicting the intergenerational transmission of mental illness.
Eur Child Adolesc Psychiatry
; 2024 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38613677
5.
The Wnt/Ca2+ pathway is involved in interneuronal communication mediated by tunneling nanotubes.
EMBO J
; 38(23): e101230, 2019 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31625188
6.
CaMKII controls neuromodulation via neuropeptide gene expression and axonal targeting of neuropeptide vesicles.
PLoS Biol
; 18(8): e3000826, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32776935
7.
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
Hum Mutat
; 43(10): 1377-1395, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35730652
8.
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
Hum Mutat
; 42(4): 445-459, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33565190
9.
CAMK2-Dependent Signaling in Neurons Is Essential for Survival.
J Neurosci
; 39(28): 5424-5439, 2019 07 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31064859
10.
Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia.
Hum Mutat
; 41(2): 476-486, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31692205
11.
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Am J Hum Genet
; 101(5): 768-788, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100089
12.
Adult Ube3a Gene Reinstatement Restores the Electrophysiological Deficits of Prefrontal Cortex Layer 5 Neurons in a Mouse Model of Angelman Syndrome.
J Neurosci
; 38(37): 8011-8030, 2018 09 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30082419
13.
The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function.
Hum Mutat
; 39(12): 2008-2024, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30184290
14.
An essential role for UBE2A/HR6A in learning and memory and mGLUR-dependent long-term depression.
Hum Mol Genet
; 25(1): 1-8, 2016 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26476408
15.
Ube3a loss increases excitability and blunts orientation tuning in the visual cortex of Angelman syndrome model mice.
J Neurophysiol
; 118(1): 634-646, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28468997
16.
Intact neuronal function in Rheb1 mutant mice: implications for TORC1-based treatments.
Hum Mol Genet
; 24(12): 3390-8, 2015 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25759467
17.
Non-associative potentiation of perisomatic inhibition alters the temporal coding of neocortical layer 5 pyramidal neurons.
PLoS Biol
; 12(7): e1001903, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25003184
18.
Temporal and region-specific requirements of αCaMKII in spatial and contextual learning.
J Neurosci
; 34(34): 11180-7, 2014 Aug 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25143599
19.
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Sci Transl Med
; 15(698): eabo3189, 2023 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37256937
20.
ßCaMKII plays a nonenzymatic role in hippocampal synaptic plasticity and learning by targeting αCaMKII to synapses.
J Neurosci
; 31(28): 10141-8, 2011 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21752990