Detalhe da pesquisa
1.
Evaluation of safety and early efficacy of AAV gene therapy in mouse models of vanishing white matter disease.
Mol Ther
; 2024 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38549375
2.
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.
Mol Genet Metab
; 142(1): 108453, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38522179
3.
Progress in leukodystrophies with zebrafish.
Dev Growth Differ
; 66(1): 21-34, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38239149
4.
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Cytotherapy
; 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38613540
5.
Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish.
Hum Mol Genet
; 30(5): 331-342, 2021 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33517449
6.
Rapid Genome Sequencing Diagnosis in Pediatric Patients with Liver Dysfunction.
J Pediatr
; 260: 113534, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37269902
7.
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.
Ann Neurol
; 92(5): 895-901, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35947102
8.
Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates.
BMC Neurol
; 23(1): 305, 2023 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37592248
9.
Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics.
Pediatr Res
; 92(5): 1364-1369, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35115709
10.
Geographic and Specialty Access Disparities in US Pediatric Leukodystrophy Diagnosis.
J Pediatr
; 220: 193-199, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32143930
11.
A zebrafish model of X-linked adrenoleukodystrophy recapitulates key disease features and demonstrates a developmental requirement for abcd1 in oligodendrocyte patterning and myelination.
Hum Mol Genet
; 26(18): 3600-3614, 2017 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28911205
12.
A toolbox to study epidermal cell types in zebrafish.
J Cell Sci
; 130(1): 269-277, 2017 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27149923
13.
Hypothalamic radial glia function as self-renewing neural progenitors in the absence of Wnt/ß-catenin signaling.
Development
; 143(1): 45-53, 2016 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26603385
14.
The post-diagnostics world: charting a path for pediatric genomic medicine in the twenty-first century.
Pediatr Res
; 93(3): 457-459, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35690684
15.
A Novel Developmental Role for Dopaminergic Signaling to Specify Hypothalamic Neurotransmitter Identity.
J Biol Chem
; 291(42): 21880-21892, 2016 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-27539857
16.
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.
Mol Genet Metab
; 122(1-2): 18-32, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28863857
17.
A Serotonin Circuit Acts as an Environmental Sensor to Mediate Midline Axon Crossing through EphrinB2.
J Neurosci
; 35(44): 14794-808, 2015 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26538650
18.
Temporal Dysynchrony in brain connectivity gene expression following hypoxia.
BMC Genomics
; 17: 334, 2016 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27146468
19.
Live imaging of mitochondrial dynamics in CNS dopaminergic neurons in vivo demonstrates early reversal of mitochondrial transport following MPP(+) exposure.
Neurobiol Dis
; 95: 238-49, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27452482
20.
Sim1a and Arnt2 contribute to hypothalamo-spinal axon guidance by regulating Robo2 activity via a Robo3-dependent mechanism.
Development
; 140(1): 93-106, 2013 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23222439