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GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates.
- Published in:
- Human Genetics, 2019, v. 138, n. 10, p. 1183, doi. 10.1007/s00439-019-02057-x
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- Publication type:
- Article
Doublecortin and JIP3 are neural-specific counteracting regulators of dynein-mediated retrograde trafficking.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.82218
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- Publication type:
- Article
Both Doublecortin and Doublecortin-Like Kinase Play a Role in Cortical Interneuron Migration.
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- Journal of Neuroscience, 2007, v. 27, n. 14, p. 3875, doi. 10.1523/JNEUROSCI.4530-06.2007
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- Publication type:
- Article
Selective inhibition of human glial inducible nitric oxide synthase by interferon-β: Implications for multiple sclerosis.
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- Annals of Neurology, 1998, v. 43, n. 3, p. 384, doi. 10.1002/ana.410430317
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- Publication type:
- Article
The physician/patient encounter from a cognitive behavioral...
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- Journal of Occupational Rehabilitation, 1998, v. 8, n. 2, p. 153, doi. 10.1023/A:1023019823895
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- Publication type:
- Article
Embryonic transcription factor expression in mice predicts medial amygdala neuronal identity and sex-specific responses to innate behavioral cues.
- Published in:
- eLife, 2017, p. 1, doi. 10.7554/eLife.21012
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- Publication type:
- Article
Experimental validation of the higher-order derivative discontinuity method for damage identification.
- Published in:
- Structural Control & Health Monitoring, 2008, v. 15, n. 2, p. 143, doi. 10.1002/stc.210
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- Publication type:
- Article
Differential neuronal susceptibility and apoptosis in congenital Zika virus infection.
- Published in:
- 2017
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- Publication type:
- journal article
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.
- Published in:
- 2014
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- Publication type:
- journal article
Genetic and phenotypic diversity of NHE 6 mutations in Christianson syndrome.
- Published in:
- Annals of Neurology, 2014, v. 76, n. 4, p. 581, doi. 10.1002/ana.24225
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- Publication type:
- Article
Proceedings of the Sleep and Epilepsy Workshop: Section 1 Decreasing Seizures: Improving Sleep and Seizures, Themes for Future Research.
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- Epilepsy Currents, 2021, v. 21, n. 3, p. 204, doi. 10.1177/15357597211004566
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- Publication type:
- Article
E-I E-I Woe: Mossy Cell Regulation of Granule Cell Activity in Temporal Lobe Epilepsy.
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- Epilepsy Currents, 2020, v. 20, n. 3, p. 173, doi. 10.1177/1535759720920828
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- Publication type:
- Article
The Community-Engaged Lab: A Case-Study Introduction for Developmental Science.
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- Frontiers in Psychology, 2021, v. 12, p. 1, doi. 10.3389/fpsyg.2021.715914
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- Publication type:
- Article
Being me in times of change: Young children's reflections on their lives during the COVID‐19 pandemic.
- Published in:
- Children & Society, 2024, v. 38, n. 4, p. 1147, doi. 10.1111/chso.12790
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- Publication type:
- Article
The emerging role of the tubulin code: From the tubulin molecule to neuronal function and disease.
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- Cytoskeleton, 2016, v. 73, n. 10, p. 521, doi. 10.1002/cm.21290
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- Publication type:
- Article
SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy.
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- Genes, 2022, v. 13, n. 9, p. 1655, doi. 10.3390/genes13091655
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- Publication type:
- Article
High Extracellular Potassium Modulates Nitric Oxide Synthase Expression in Human Astrocytes.
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- Journal of Neurochemistry, 2000, v. 74, n. 5, p. 1903, doi. 10.1046/j.1471-4159.2000.0741903.x
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- Publication type:
- Article
Dipyridamole monotherapy in schizophrenia.
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- Psychopharmacology, 2011, v. 218, n. 2, p. 341, doi. 10.1007/s00213-011-2315-3
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- Publication type:
- Article
Molecular Genetics of Neuronal Migration Disorders.
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- Current Neurology & Neuroscience Reports, 2011, v. 11, n. 2, p. 171, doi. 10.1007/s11910-010-0176-5
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- Publication type:
- Article
Doublecortin (Dcx) Family Proteins Regulate Filamentous Actin Structure in Developing Neurons.
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- Journal of Neuroscience, 2013, v. 33, n. 2, p. 709, doi. 10.1523/JNEUROSCI.4603-12.2013
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- Publication type:
- Article
Doublecortin (DCX) Mediates Endocytosis of Neurofascin Independently of Microtubule Binding.
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- Journal of Neuroscience, 2012, v. 32, n. 22, p. 7439, doi. 10.1523/JNEUROSCI.5318-11.2012
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- Publication type:
- Article
Identification of Neural Outgrowth Genes using Genome-Wide RNAi.
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- PLoS Genetics, 2008, v. 4, n. 7, p. 1, doi. 10.1371/journal.pgen.1000111
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- Publication type:
- Article
Molecular regulation of brain metabolism underlying circadian epilepsy.
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- Epilepsia (Series 4), 2021, v. 62, n. 1, p. S32, doi. 10.1111/epi.16796
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- Publication type:
- Article
Differential induction of chemokines in human microglia by type i and ii interferons.
- Published in:
- Glia, 2000, v. 29, n. 3, p. 273, doi. 10.1002/(SICI)1098-1136(20000201)29:3<273::AID-GLIA8>3.0.CO;2-9
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- Publication type:
- Article
Determination of the compound class and functional groups in protonated analytes via diagnostic gas‐phase ion‐molecule reactions.
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- Mass Spectrometry Reviews, 2023, v. 42, n. 5, p. 1508, doi. 10.1002/mas.21727
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- Publication type:
- Article
Loss of Christianson Syndrome Na<sup>+</sup>/H<sup>+</sup> Exchanger 6 (NHE6) Causes Abnormal Endosome Maturation and Trafficking Underlying Lysosome Dysfunction in Neurons.
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- Journal of Neuroscience, 2021, v. 41, n. 44, p. 9235, doi. 10.1523/JNEUROSCI.1244-20.2021
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- Publication type:
- Article
Rasmussen encephalitis tissue transfer program.
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- Epilepsia (Series 4), 2016, v. 57, n. 6, p. 1005, doi. 10.1111/epi.13383
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- Publication type:
- Article
Rare genetic causes of lissencephaly may implicate microtubule-based transport in the pathogenesis of cortical dysplasias.
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- Epilepsia (Series 4), 2010, v. 51, p. 67, doi. 10.1111/j.1528-1167.2010.02853.x
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- Publication type:
- Article
Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2284, doi. 10.1002/ajmg.a.61322
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- Publication type:
- Article
Postoperative Observation of Children after Endoscopic Type 1 Posterior Laryngeal Cleft Repair.
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- Otolaryngology-Head & Neck Surgery, 2015, v. 152, n. 1, p. 153, doi. 10.1177/0194599814556068
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- Publication type:
- Article
Phenotypic Variability in Caucasian and Japanese Patients with Matched LQT1 Mutations.
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- Annals of Noninvasive Electrocardiology, 2008, v. 13, n. 3, p. 234, doi. 10.1111/j.1542-474X.2008.00226.x
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- Publication type:
- Article
Proteome dynamics during postnatal mouse corpus callosum development.
- Published in:
- Scientific Reports, 2017, p. 45359, doi. 10.1038/srep45359
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- Publication type:
- Article
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 22, p. 4506, doi. 10.1093/hmg/ddx338
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- Publication type:
- Article