Detalhe da pesquisa
1.
Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.
Hum Mol Genet
; 31(1): 1-9, 2021 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33693784
2.
Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability.
J Hum Genet
; 67(1): 19-26, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34244600
3.
Cochlear nerve deficiency in SOX11-related Coffin-Siris syndrome.
Am J Med Genet A
; 188(8): 2460-2465, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35642566
4.
DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Genet Med
; 23(1): 149-154, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32873933
5.
STING-Mediated Autophagy Is Protective against H2O2-Induced Cell Death.
Int J Mol Sci
; 21(19)2020 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32992769
6.
O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling.
J Biol Chem
; 293(27): 10810-10824, 2018 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29769320
7.
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.
Neurogenetics
; 20(3): 145-154, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31209758
8.
Inflammation in Traumatic Brain Injury: Roles for Toxic A1 Astrocytes and Microglial-Astrocytic Crosstalk.
Neurochem Res
; 44(6): 1410-1424, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30661228
9.
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
Hum Mutat
; 39(12): 1980-1994, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30168660
10.
STING-mediated type-I interferons contribute to the neuroinflammatory process and detrimental effects following traumatic brain injury.
J Neuroinflammation
; 15(1): 323, 2018 Nov 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30463579
11.
Type-I interferon pathway in neuroinflammation and neurodegeneration: focus on Alzheimer's disease.
J Neural Transm (Vienna)
; 125(5): 797-807, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28676934
12.
Type-I interferons mediate the neuroinflammatory response and neurotoxicity induced by rotenone.
J Neurochem
; 141(1): 75-85, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28029694
13.
Type-1 interferons contribute to the neuroinflammatory response and disease progression of the MPTP mouse model of Parkinson's disease.
Glia
; 64(9): 1590-604, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27404846
14.
The contribution of neuroinflammation to amyloid toxicity in Alzheimer's disease.
J Neurochem
; 136(3): 457-74, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26509334
15.
Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Genet Med
; 23(1): 237, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32934366
16.
Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.
J Inherit Metab Dis
; 39(2): 305-8, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26497564
17.
Soluble amyloid triggers a myeloid differentiation factor 88 and interferon regulatory factor 7 dependent neuronal type-1 interferon response in vitro.
J Neuroinflammation
; 12: 71, 2015 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-25879763
18.
Type-1 interferons contribute to oxygen glucose deprivation induced neuro-inflammation in BE(2)M17 human neuroblastoma cells.
J Neuroinflammation
; 11: 43, 2014 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24602263
19.
A novel 11 base pair deletion in KMT2C resulting in Kleefstra syndrome 2.
Mol Genet Genomic Med
; 12(1): e2350, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38146907
20.
Pharmacological inhibition of STING reduces neuroinflammation-mediated damage post-traumatic brain injury.
Br J Pharmacol
; 2024 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38710660