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Using Electroporation to Improve and Accelerate Zebrafish Embryo Toxicity Testing.
- Published in:
- Micromachines, 2024, v. 15, n. 1, p. 49, doi. 10.3390/mi15010049
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- Publication type:
- Article
Pediatric Epilepsy Genetic Testing Results and Long-term Seizure Freedom.
- Published in:
- Journal of Child Neurology, 2024, v. 39, n. 11/12, p. 409, doi. 10.1177/08830738241279225
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- Publication type:
- Article
Time to Transplant in X-Linked Adrenoleukodystrophy.
- Published in:
- Journal of Child Neurology, 2022, v. 37, n. 5, p. 397, doi. 10.1177/08830738221081141
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- Publication type:
- Article
Hospitalization Burden and Incidence of Krabbe Disease.
- Published in:
- Journal of Child Neurology, 2022, v. 37, n. 1, p. 12, doi. 10.1177/08830738211027717
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- Publication type:
- Article
Disparities in Pediatric Epilepsy Remission Are Associated With Race and Ethnicity.
- Published in:
- Journal of Child Neurology, 2019, v. 34, n. 14, p. 928, doi. 10.1177/0883073819866623
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- Publication type:
- Article
Scope and Burden of Non–Standard of Care Hematopoietic Stem Cell Transplantation in Pediatric Leukodystrophy Patients.
- Published in:
- Journal of Child Neurology, 2018, v. 33, n. 14, p. 882, doi. 10.1177/0883073818798090
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- Publication type:
- Article
Seizure Action Plans Do Not Reduce Health Care Utilization in Pediatric Epilepsy Patients.
- Published in:
- Journal of Child Neurology, 2016, v. 31, n. 4, p. 433, doi. 10.1177/0883073815597755
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- Publication type:
- Article
Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature.
- Published in:
- 2016
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- Publication type:
- Case Study
Author's Response to "Classifying Hypomyelination: A Critical (white) Matter" From Perrier et al.: regarding Expanded Phenotypic Definition Identifies Hundreds of Potential Causative Genes for Leukodystrophies and Leukoencephalopathies.
- Published in:
- Child Neurology Open, 2020, p. 1, doi. 10.1177/2329048X20983756
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- Publication type:
- Article
Expanded Phenotypic Definition Identifies Hundreds of Potential Causative Genes for Leukodystrophies and Leukoencephalopathies.
- Published in:
- Child Neurology Open, 2020, v. 7, p. 1, doi. 10.1177/2329048X20939003
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- Publication type:
- Article
Author's Response to "Classifying Hypomyelination: A Critical (white) Matter" From Perrier et al.: regarding Expanded Phenotypic Definition Identifies Hundreds of Potential Causative Genes for Leukodystrophies and Leukoencephalopathies.
- Published in:
- Child Neurology Open, 2020, v. 7, p. 1, doi. 10.1177/2329048x20939003
- By:
- Publication type:
- Article
Expanded Phenotypic Definition Identifies Hundreds of Potential Causative Genes for Leukodystrophies and Leukoencephalopathies.
- Published in:
- Child Neurology Open, 2020, v. 7, p. 1, doi. 10.1177/2329048X20939003
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- Publication type:
- Article
Development, Implementation, and Use of a Neurology Therapeutics Committee.
- Published in:
- Child Neurology Open, 2019, v. 6, n. 7, p. N.PAG, doi. 10.1177/2329048X19830473
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- Publication type:
- Article
Autism Spectrum Disorder and Neonatal Serum Magnesium Levels in Preterm Infants.
- Published in:
- Child Neurology Open, 2018, v. 5, p. 1, doi. 10.1177/2329048X18800566
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- Publication type:
- Article
Development, Implementation, and Use of a Neurology Therapeutics Committee.
- Published in:
- Child Neurology Open, 2019, v. 6, p. N.PAG, doi. 10.1177/2329048X19830473
- By:
- Publication type:
- Article
Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes.
- Published in:
- Child Neurology Open, 2018, v. 5, p. 1, doi. 10.1177/2329048X18789282
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- Publication type:
- Article
Vanishing white matter disease expression of truncated EIF2B5 activates induced stress response.
- Published in:
- eLife, 2020, p. 1, doi. 10.7554/eLife.56319
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- Publication type:
- Article
Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1888
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- Publication type:
- Article
Progress in leukodystrophies with zebrafish.
- Published in:
- Development, Growth & Differentiation, 2024, v. 66, n. 1, p. 21, doi. 10.1111/dgd.12907
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- Publication type:
- Article
Barriers, access and management of paediatric epilepsy with telehealth.
- Published in:
- 2022
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- Publication type:
- Journal Article
Targeted leukodystrophy diagnosis based on charges and yields for testing.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2541, doi. 10.1002/ajmg.a.37215
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- Publication type:
- Article
Racial/Ethnic and Insurance Status Disparities in Distance Traveled to Access Children's Hospital Care for Severe Illness: the Case of Children with Leukodystrophies.
- Published in:
- Journal of Racial & Ethnic Health Disparities, 2020, v. 7, n. 5, p. 975, doi. 10.1007/s40615-020-00722-w
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- Publication type:
- Article
Transgenic FingRs for Live Mapping of Synaptic Dynamics in Genetically-Defined Neurons.
- Published in:
- Scientific Reports, 2016, p. 18734, doi. 10.1038/srep18734
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- Publication type:
- Article
Long-Term Health Outcomes of Infantile Spasms Following Prednisolone vs. Adrenocorticotropic Hormone Treatment Characterized Using Phenome-Wide Association Study.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.878294
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- Publication type:
- Article
The Zebrafish Homologue of the Human DYT1 Dystonia Gene Is Widely Expressed in CNS Neurons but Non- Essential for Early Motor System Development.
- Published in:
- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045175
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- Publication type:
- Article
Zebrafish foxP2 Zinc Finger Nuclease Mutant Has Normal Axon Pathfinding.
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0043968
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- Publication type:
- Article
Hypoplasia of dopaminergic neurons by hypoxia-induced neurotoxicity is associated with disrupted swimming development of larval zebrafish.
- Published in:
- Frontiers in Cellular Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fncel.2022.963037
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- Publication type:
- Article
Shedding light on the leukodystrophies.
- Published in:
- 2016
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- Publication type:
- journal article
Temporal Dysynchrony in brain connectivity gene expression following hypoxia.
- Published in:
- BMC Genomics, 2016, v. 17, p. 1, doi. 10.1186/s12864-016-2638-x
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- Publication type:
- Article
Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy.
- Published in:
- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0061-8
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- Publication type:
- Article
400 Investigation of a translational astrocyte-targeted AAV-mediated gene addition therapy in two models of Vanishing White Matter disease.
- Published in:
- 2024
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- Publication type:
- Abstract
Rapid clinical diagnostic variant investigation of genomic patient sequencing data with iobio web tools.
- Published in:
- Journal of Clinical & Translational Science, 2017, v. 1, n. 6, p. 381, doi. 10.1017/cts.2017.311
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- Publication type:
- Article
Netrin-DCC, Robo-Slit, and Heparan Sulfate Proteoglycans Coordinate Lateral Positioning of Longitudinal Dopaminergic Diencephalospinal Axons.
- Published in:
- Journal of Neuroscience, 2009, v. 29, n. 28, p. 8914, doi. 10.1523/JNEUROSCI.0568-09.2009
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- Publication type:
- Article
A pragmatic approach to ALTEs.
- Published in:
- Contemporary Pediatrics, 2009, v. 26, n. 11, p. 54
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- Publication type:
- Article
Early genetic testing in pediatric epilepsy: Diagnostic and cost implications.
- Published in:
- Epilepsia Open, 2024, v. 9, n. 1, p. 439, doi. 10.1002/epi4.12878
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- Publication type:
- Article
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
- Published in:
- JAMA Neurology, 2022, v. 79, n. 12, p. 1267, doi. 10.1001/jamaneurol.2022.3651
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- Publication type:
- Article
Neurologist Comfort in the Use of Next-Generation Sequencing Diagnostics.
- Published in:
- JAMA Neurology, 2016, v. 73, n. 6, p. 621, doi. 10.1001/jamaneurol.2016.0168
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- Publication type:
- Article
Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.
- Published in:
- Annals of Neurology, 2022, v. 92, n. 5, p. 895, doi. 10.1002/ana.26477
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- Publication type:
- Article
Heightened neurologic complications in children with pandemic H1N1 influenza.
- Published in:
- Annals of Neurology, 2010, v. 68, n. 5, p. 762, doi. 10.1002/ana.22184
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- Publication type:
- Article
Gal80 intersectional regulation of cell-type specific expression in vertebrates.
- Published in:
- Developmental Dynamics, 2011, v. 240, n. 10, p. 2324, doi. 10.1002/dvdy.22734
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- Publication type:
- Article
Molecular cloning and developmental expression of foxP2 in zebrafish.
- Published in:
- Developmental Dynamics, 2005, v. 234, n. 3, p. 740
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- Publication type:
- Article
Generation and characterization of a zebrafish gain-of-function ACOX1 Mitchell disease model.
- Published in:
- Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1326886
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- Publication type:
- Article
Maternal Magnesium Sulphate Exposure Predicts Neonatal Magnesium Blood Concentrations.
- Published in:
- Basic & Clinical Pharmacology & Toxicology, 2014, v. 114, n. 4, p. 318, doi. 10.1111/bcpt.12166
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- Publication type:
- Article
Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.796
- By:
- Publication type:
- Article
A zebrafish model of X-linked adrenoleukodystrophy recapitulates key disease features and demonstrates a developmental requirement for abcd1 in oligodendrocyte patterning and myelination.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 18, p. 3600, doi. 10.1093/hmg/ddx249
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- Publication type:
- Article
Microfluidic-aided genotyping of zebrafish in the first 48 h with 100 % viability.
- Published in:
- Biomedical Microdevices, 2015, v. 17, n. 2, p. 1, doi. 10.1007/s10544-015-9946-9
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- Publication type:
- Article
Seizures In Children Following an Apparent Life-threatening Event.
- Published in:
- Journal of Child Neurology, 2009, v. 24, n. 6, p. 709, doi. 10.1177/0883073808329532
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- Publication type:
- Article
Progressive Encephalopathy in a Child With Cerebral Folate Deficiency Syndrome.
- Published in:
- Journal of Child Neurology, 2008, v. 23, n. 12, p. 1460, doi. 10.1177/0883073808318546
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- Publication type:
- Article
Splenial Corpus Callosum Lesion and Hemifield Visual Color Anomia Associated With Intracranial Hypertension.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 9, p. 1132, doi. 10.1177/0883073807306252
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- Publication type:
- Article