Detalhe da pesquisa
1.
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
2.
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
3.
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila.
Hum Mol Genet;
31(19): 3231-3244, 2022 09 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35234901
4.
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.
Am J Hum Genet;
106(5): 717-725, 2020 05 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32330417
5.
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
Brain;
145(5): 1684-1697, 2022 06 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34788397
6.
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
Am J Hum Genet;
105(5): 907-920, 2019 11 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31607425
7.
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.
Am J Hum Genet;
103(4): 568-578, 2018 10 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30290152
8.
IRF2BPL Is Associated with Neurological Phenotypes.
Am J Hum Genet;
103(2): 245-260, 2018 08 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30057031
9.
ABCD1 and X-linked adrenoleukodystrophy: A disease with a markedly variable phenotype showing conserved neurobiology in animal models.
J Neurosci Res;
99(12): 3170-3181, 2021 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34716609
10.
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3.
Hum Mol Genet;
27(15): 2703-2711, 2018 08 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29771303
11.
IRF2BPL Is Associated with Neurological Phenotypes.
Am J Hum Genet;
103(3): 456, 2018 09 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30193138
12.
Cdk8/CDK19 promotes mitochondrial fission through Drp1 phosphorylation and can phenotypically suppress pink1 deficiency in Drosophila.
Nat Commun;
15(1): 3326, 2024 Apr 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38637532
13.
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
14.
Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling.
Sci Adv;
8(3): eabl5613, 2022 01 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35044823
15.
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Cell Rep;
38(11): 110517, 2022 03 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35294868
16.
Phosphatidylserine synthase plays an essential role in glia and affects development, as well as the maintenance of neuronal function.
iScience;
24(8): 102899, 2021 Aug 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34401677
17.
Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms.
Neuron;
106(4): 589-606.e6, 2020 05 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32169171
18.
An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms.
Elife;
82019 11 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31674908
19.
Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.
Dev Cell;
51(6): 713-729.e6, 2019 12 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31735666
20.
Drosophila Schip1 Links Expanded and Tao-1 to Regulate Hippo Signaling.
Dev Cell;
36(5): 511-24, 2016 Mar 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26954546