Works matching DE "NEUROLOGICAL disorders -- Genetic aspects"
Results: 129
Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia.
- Published in:
- Acta Neuropathologica, 2019, v. 137, n. 1, p. 71, doi. 10.1007/s00401-018-1925-9
- By:
- Publication type:
- Article
P01-182 - Genetic syndromes associated with autism
- Published in:
- 2010
- By:
- Publication type:
- Abstract
Reorganization and Stability for Motor and Language Areas Using Cortical Stimulation: Case Example and Review of the Literature.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
The Ability of the Eating Assessment Tool-10 to Detect Aspiration in Patients With Neurological Disorders.
- Published in:
- Journal of Neurogastroenterology & Motility, 2017, v. 23, n. 4, p. 550, doi. 10.5056/jnm16165
- By:
- Publication type:
- Article
Clinical and Genetic Characteristics of Leukodystrophies in Africa.
- Published in:
- Journal of Neurosciences in Rural Practice, 2017, v. 8, p. 89, doi. 10.4103/jnrp.jnrp_511_16
- By:
- Publication type:
- Article
Effects of STAT3 inhibitors on neural functional recovery after spinal cord injury in rats.
- Published in:
- BioScience Trends, 2016, v. 10, n. 6, p. 460, doi. 10.5582/bst.2016.01160
- By:
- Publication type:
- Article
The Base Hit: Neurological Diseases and Genetic Susceptibilities to Pesticide Exposures.
- Published in:
- Environmental Health Perspectives, 2024, v. 132, n. 9, p. 094001-1, doi. 10.1289/EHP15412
- By:
- Publication type:
- Article
Data-Driven Characterization of Genetic Variability in Disease Pathways and Pesticide-Induced Nervous System Disease in the United States Population.
- Published in:
- Environmental Health Perspectives, 2024, v. 132, n. 5, p. 057003-1, doi. 10.1289/EHP14108
- By:
- Publication type:
- Article
Real-Time Imaging Reveals Augmentation of Glutamate-Induced Ca2+ Transients by the NO-cGMP Pathway in Cerebellar Granule Neurons.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 8, p. 2185, doi. 10.3390/ijms19082185
- By:
- Publication type:
- Article
P2X and P2Y Receptors--Role in the Pathophysiology of the Nervous System.
- Published in:
- International Journal of Molecular Sciences, 2014, v. 15, n. 12, p. 23772, doi. 10.3390/ijms151223672
- By:
- Publication type:
- Article
Dysregulation of the ALS-associated gene TDP-43 leads to neuronal death and degeneration in mice.
- Published in:
- Journal of Clinical Investigation, 2011, v. 121, n. 2, p. 726, doi. 10.1172/JCI44867
- By:
- Publication type:
- Article
Aberrant DNA methylation in lymphocytes of children with neurodevelopmental disorders.
- Published in:
- Russian Journal of Genetics, 2017, v. 53, n. 11, p. 1243, doi. 10.1134/S1022795417110072
- By:
- Publication type:
- Article
RNAseq analysis for the diagnosis of muscular dystrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 1, p. 55, doi. 10.1002/acn3.267
- By:
- Publication type:
- Article
Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysis.
- Published in:
- Translational Neurodegeneration, 2017, v. 6, p. 1, doi. 10.1186/s40035-017-0079-3
- By:
- Publication type:
- Article
CASE 2 DIAGNOSIS: DOPA-RESPONSIVE DYSTONIA DUE TO GTP CYCLOHYDROLASE 1 DEFICIENCY.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders.
- Published in:
- Iranian Journal of Child Neurology, 2018, v. 12, n. 1, p. 7
- By:
- Publication type:
- Article
In Vivo Analysis of a Gain-of-Function Mutation Confirms Unc18/Munc18's Role in Priming.
- Published in:
- Journal of Neuroscience, 2018, v. 38, n. 5, p. 1055, doi. 10.1523/JNEUROSCI.3068-17.2017
- By:
- Publication type:
- Article
Emerging Evidence for a Direct Link between EAAT-Associated Anion Channels and Neurological Disorders.
- Published in:
- Journal of Neuroscience, 2017, v. 37, n. 2, p. 241, doi. 10.1523/JNEUROSCI.2947-16.2017
- By:
- Publication type:
- Article
miR-27b shapes the presynaptic transcriptome and influences neurotransmission by silencing the polycomb group protein Bmi1.
- Published in:
- BMC Genomics, 2016, v. 17, p. 1, doi. 10.1186/s12864-016-3139-7
- By:
- Publication type:
- Article
Psychoactive pharmaceuticals at environmental concentrations induce in vitro gene expression associated with neurological disorders.
- Published in:
- BMC Genomics, 2016, v. 17, p. 277, doi. 10.1186/s12864-016-2784-1
- By:
- Publication type:
- Article
Auditory pathway changes mirror overall disease progress in individuals with Friedreich ataxia.
- Published in:
- 2012
- By:
- Publication type:
- Letter
A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome.
- Published in:
- Journal of Neurology, 2008, v. 255, n. 9, p. 1417, doi. 10.1007/s00415-008-0896-5
- By:
- Publication type:
- Article
Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease.
- Published in:
- Nature Reviews Neuroscience, 2012, v. 13, n. 7, p. 453, doi. 10.1038/nrn3271
- By:
- Publication type:
- Article
Sustained expression of MCP-1 by low wall shear stress loading concomitant with turbulent flow on endothelial cells of intracranial aneurysm.
- Published in:
- Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0318-3
- By:
- Publication type:
- Article
Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase.
- Published in:
- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0225-z
- By:
- Publication type:
- Article
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.
- Published in:
- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0224-0
- By:
- Publication type:
- Article
Cystatin B-deficient mice have increased expression of apoptosis and glial activation genes.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 18, p. 1867, doi. 10.1093/hmg/10.18.1867
- By:
- Publication type:
- Article
Expression of expanded repeat androgen receptor produces neurologic disease in transgenic mice.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 2, p. 107, doi. 10.1093/hmg/10.2.107
- By:
- Publication type:
- Article
Fourteen and counting: unraveling trinucleotide repeat diseases.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 6, p. 909, doi. 10.1093/hmg/9.6.909
- By:
- Publication type:
- Article
French Machado-Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 9, p. 1779, doi. 10.1093/hmg/8.9.1779
- By:
- Publication type:
- Article
Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 7, p. 1245, doi. 10.1093/hmg/8.7.1245
- By:
- Publication type:
- Article
Adenovirus-mediated expression of mutant DRPLA proteins with expanded polyglutamine stretches in neuronally differentiated PC12 cells. Preferential intranuclear aggregate formation and apoptosis.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 6, p. 997, doi. 10.1093/hmg/8.6.997
- By:
- Publication type:
- Article
Functional Gait Disorders: Clinical presentations, Phenotypes and Implications for treatment.
- Published in:
- Brain Injury, 2023, v. 37, n. 5, p. 437, doi. 10.1080/02699052.2023.2165158
- By:
- Publication type:
- Article
Understanding What You Have Found: A Family With a Mutation in the LAMA1 Gene With Literature Review.
- Published in:
- Clinical Medicine Insights: Case Reports, 2020, v. 13, p. 1, doi. 10.1177/1179547620948666
- By:
- Publication type:
- Article
Understanding What You Have Found: A Family With a Mutation in the LAMA1 Gene With Literature Review.
- Published in:
- Clinical Medicine Insights: Case Reports, 2020, p. 1, doi. 10.1177/1179547620948666
- By:
- Publication type:
- Article
Immunotherapy targeting toll-like receptor 2 alleviates neurodegeneration in models of synucleinopathy by modulating α-synuclein transmission and neuroinflammation.
- Published in:
- Molecular Neurodegeneration, 2018, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13024-018-0276-2
- By:
- Publication type:
- Article
Nigral overexpression of alpha-synuclein in the absence of parkin enhances alpha-synuclein phosphorylation but does not modulate dopaminergic neurodegeneration.
- Published in:
- Molecular Neurodegeneration, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13024-015-0017-8
- By:
- Publication type:
- Article
Connecting Synaptic Activity with Plasticity-Related Gene Expression: From Molecular Mechanisms to Neurological Disorders.
- Published in:
- Neural Plasticity, 2016, p. 1, doi. 10.1155/2016/7149527
- By:
- Publication type:
- Article
News Briefs.
- Published in:
- 2013
- Publication type:
- Journal Article
Occurrence of six-amino-acid motifs in three eukaryotic proteomes.
- Published in:
- Molecular Biology, 2012, v. 46, n. 1, p. 168, doi. 10.1134/S0026893312010128
- By:
- Publication type:
- Article
Human Molecular Genetics: Research in Medical Genomics and Ethnogenomics.
- Published in:
- Molecular Biology, 2004, v. 38, n. 1, p. 100, doi. 10.1023/B:MBIL.0000015145.23714.70
- By:
- Publication type:
- Article
Noncoding RNAs and Base Modifications: Epigenomic Players Implicated in Neurological Disorders and Tumorigenesis.
- Published in:
- International Journal of Genomics, 2018, p. 1, doi. 10.1155/2018/9016018
- By:
- Publication type:
- Article
The Kaleidoscope of Microglial Phenotypes.
- Published in:
- Frontiers in Immunology, 2018, p. N.PAG, doi. 10.3389/fimmu.2018.01753
- By:
- Publication type:
- Article
Quality issues concerning genetic counselling for presymptomatic testing: a European Delphi study.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1468, doi. 10.1038/ejhg.2015.23
- By:
- Publication type:
- Article
Common gene-network signature of different neurological disorders and their potential implications to neuroAIDS.
- Published in:
- PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0181642
- By:
- Publication type:
- Article
Gene expression patterns associated with neurological disease in human HIV infection.
- Published in:
- PLoS ONE, 2017, v. 12, n. 4, p. 1, doi. 10.1371/journal.pone.0175316
- By:
- Publication type:
- Article
Bevacizumab Exacerbates Paclitaxel-Induced Neuropathy: A Retrospective Cohort Study.
- Published in:
- PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0168707
- By:
- Publication type:
- Article
Cross-Species Analysis of Gene Expression and Function in Prefrontal Cortex, Hippocampus and Striatum.
- Published in:
- PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0164295
- By:
- Publication type:
- Article
Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research.
- Published in:
- PLoS ONE, 2016, v. 11, n. 6, p. 1, doi. 10.1371/journal.pone.0157258
- By:
- Publication type:
- Article
The future of genetic research on neurodegeneration.
- Published in:
- 2010
- By:
- Publication type:
- Opinion