Detalhe da pesquisa
1.
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Am J Hum Genet
; 111(4): 742-760, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38479391
2.
The fly homolog of SUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival.
Hum Mol Genet
; 32(6): 984-997, 2023 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36255738
3.
'Fly-ing' from rare to common neurodegenerative disease mechanisms.
Trends Genet
; 38(9): 972-984, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35484057
4.
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.
Am J Hum Genet
; 109(10): 1923-1931, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36067766
5.
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
Am J Hum Genet
; 109(10): 1932-1943, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36206744
6.
Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures.
Am J Hum Genet
; 109(4): 571-586, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35240055
7.
Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms.
Hum Mol Genet
; 31(16): 2751-2765, 2022 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35348658
8.
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Am J Hum Genet
; 108(9): 1669-1691, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34314705
9.
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.
Genet Med
; 26(7): 101125, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38522068
10.
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development.
Cerebellum
; 22(2): 206-222, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35218524
11.
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.
Am J Hum Genet
; 109(11): 2092, 2022 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36332614
12.
Extracellular αB-crystallin modulates the inflammatory responses.
Biochem Biophys Res Commun
; 508(1): 282-288, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30497777
13.
De novo variants in PLCG1 are associated with hearing impairment, ocular pathology, and cardiac defects.
medRxiv
; 2024 Jan 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38260438
14.
Sphingolipids in neurodegenerative diseases.
Front Neurosci
; 17: 1137893, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36875645
15.
Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays.
Elife
; 122023 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38079206
16.
Very-long-chain fatty acids induce glial-derived sphingosine-1-phosphate synthesis, secretion, and neuroinflammation.
Cell Metab
; 35(5): 855-874.e5, 2023 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37084732
17.
Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays.
medRxiv
; 2023 Oct 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37502976
18.
A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins.
Cell Rep
; 42(8): 112842, 2023 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37480566
19.
Inhibition of astrocytic DRD2 suppresses CNS inflammation in an animal model of multiple sclerosis.
J Exp Med
; 219(9)2022 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35877595
20.
Suppression of astrocytic autophagy by αB-crystallin contributes to α-synuclein inclusion formation.
Transl Neurodegener
; 8: 3, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30675347