Detalhe da pesquisa
1.
The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction.
Hum Mol Genet
; 32(1): 151-160, 2023 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35981053
2.
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Acta Neuropathol
; 146(2): 353-368, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37119330
3.
Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia.
Am J Hum Genet
; 104(5): 936-947, 2019 05 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30982608
4.
Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy.
Acta Neuropathol
; 144(2): 211-239, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35713703
5.
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Brain
; 144(3): 769-780, 2021 04 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33764426
6.
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Acta Neuropathol
; 139(3): 415-442, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31820119
7.
Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development.
Glia
; 67(9): 1705-1718, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31140649
8.
Identification of a conserved and acute neurodegeneration-specific microglial transcriptome in the zebrafish.
Glia
; 65(1): 138-149, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27757989
9.
AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome.
Neurobiol Dis
; 42(3): 311-7, 2011 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-21316452
10.
Reduction of oxidative stress suppresses poly-GR-mediated toxicity in zebrafish embryos.
Dis Model Mech
; 14(11)2021 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34693978
11.
Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance.
Genome Med
; 13(1): 162, 2021 10 19.
Artigo
Inglês
| MEDLINE | ID: mdl-34663447
12.
Identification of antiparkinsonian drugs in the 6-hydroxydopamine zebrafish model.
Pharmacol Biochem Behav
; 189: 172828, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31785245
13.
Zebrafish macrophage developmental arrest underlies depletion of microglia and reveals Csf1r-independent metaphocytes.
Elife
; 92020 05 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32367800
14.
Reverse genetic screen reveals that Il34 facilitates yolk sac macrophage distribution and seeding of the brain.
Dis Model Mech
; 12(3)2019 03 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30765415
15.
Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy.
Circ Genom Precis Med
; 12(9): 397-406, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31461301
16.
Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice.
Neurobiol Dis
; 31(1): 127-32, 2008 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-18571098
17.
Colony-Stimulating Factor 1 Receptor (CSF1R) Regulates Microglia Density and Distribution, but Not Microglia Differentiation In Vivo.
Cell Rep
; 24(5): 1203-1217.e6, 2018 07 31.
Artigo
Inglês
| MEDLINE | ID: mdl-30067976
18.
IDH1-mutated transgenic zebrafish lines: An in-vivo model for drug screening and functional analysis.
PLoS One
; 13(6): e0199737, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29953513
19.
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.
Genome Biol
; 18(1): 48, 2017 03 08.
Artigo
Inglês
| MEDLINE | ID: mdl-28274275
20.
The zebrafish homologue of Parkinson's disease ATP13A2 is essential for embryonic survival.
Brain Res Bull
; 90: 118-26, 2013 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-23123961