Works matching DE "NEUROLOGICAL disorders -- Genetic aspects"
Results: 128
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
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- Publication type:
- Article
Reorganization and Stability for Motor and Language Areas Using Cortical Stimulation: Case Example and Review of the Literature.
- Published in:
- 2013
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- Publication type:
- Case Study
Gene Expression Profiling for Discovery of Novel Targets in Human Traumatic Brain Injury.
- Published in:
- 2011
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- Publication type:
- Journal Article
From Genetics to Epigenetics: New Perspectives in Tourette Syndrome Research.
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- Frontiers in Neuroscience, 2016, p. 1, doi. 10.3389/fnins.2016.00277
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- Publication type:
- Article
In Vivo Analysis of a Gain-of-Function Mutation Confirms Unc18/Munc18's Role in Priming.
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- Journal of Neuroscience, 2018, v. 38, n. 5, p. 1055, doi. 10.1523/JNEUROSCI.3068-17.2017
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- Publication type:
- Article
Emerging Evidence for a Direct Link between EAAT-Associated Anion Channels and Neurological Disorders.
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- Journal of Neuroscience, 2017, v. 37, n. 2, p. 241, doi. 10.1523/JNEUROSCI.2947-16.2017
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- Publication type:
- Article
The essential symbiosis of academic and clinical neurology.
- Published in:
- 2018
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- Publication type:
- Editorial
Regional and Developmental Expression of the Npc1 mRNA in the Mouse Brain.
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- Journal of Neurochemistry, 2000, v. 75, n. 3, p. 1250, doi. 10.1046/j.1471-4159.2000.0751250.x
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- Publication type:
- Article
Gene expression profiles in neurological tissues during West Nile virus infection: a critical meta-analysis.
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- BMC Genomics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12864-018-4914-4
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- Publication type:
- Article
The Kaleidoscope of Microglial Phenotypes.
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- Frontiers in Immunology, 2018, p. N.PAG, doi. 10.3389/fimmu.2018.01753
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- Publication type:
- Article
Clinical and Genetic Characteristics of Leukodystrophies in Africa.
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- Journal of Neurosciences in Rural Practice, 2017, v. 8, p. 89, doi. 10.4103/jnrp.jnrp_511_16
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- Publication type:
- Article
Common and disorder-specific cortical thickness alterations in internalizing, externalizing and thought disorders during early adolescence: an Adolescent Brain and Cognitive Development study.
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- Journal of Psychiatry & Neuroscience, 2023, v. 48, n. 5, p. E345, doi. 10.1503/jpn.220202
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- Publication type:
- Article
Episodic neurological dysfunction in hereditary peripheral neuropathy.
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- Annals of Indian Academy of Neurology, 2015, v. 18, n. 1, p. 111, doi. 10.4103/0972-2327.144314
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- Publication type:
- Article
N-terminal truncations of human bHLH transcription factor Twist1 leads to the formation of aggresomes.
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- Molecular & Cellular Biochemistry, 2018, v. 439, n. 1/2, p. 75, doi. 10.1007/s11010-017-3137-3
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- Publication type:
- Article
From the editors.
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- Nature Reviews Genetics, 2010, v. 11, n. 4, p. 235, doi. 10.1038/nrg2780
- Publication type:
- Article
Animal models: Modifying MeCP2.
- Published in:
- Nature Reviews Genetics, 2008, v. 9, n. 11, p. 814, doi. 10.1038/nrg2475
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- Publication type:
- Article
Family History of Mental and Neurological Disorders and Risk of Autism.
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- JAMA Network Open, 2019, v. 2, n. 3, p. e190154, doi. 10.1001/jamanetworkopen.2019.0154
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- Publication type:
- Article
Noncanonical splice‐site variant in peripheral myelin protein 22 gene (PMP22) in a patient with hereditary neuropathy with liability to pressure palsies.
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- Journal of the Peripheral Nervous System, 2023, v. 28, n. 3, p. 513, doi. 10.1111/jns.12558
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- Publication type:
- Article
Pharmacological profiling of zebrafish behavior using chemical and genetic classification of sleep-wake modifiers.
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- Frontiers in Pharmacology, 2015, p. 1, doi. 10.3389/fphar.2015.00257
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- Publication type:
- Article
Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neurons.
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- Molecular Autism, 2018, v. 9, p. 1, doi. 10.1186/s13229-018-0200-1
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- Publication type:
- Article
brain-coX: investigating and visualising gene co-expression in seven human brain transcriptomic datasets.
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- Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0444-y
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- Publication type:
- Article
Functional Mechanisms of Microsatellite DNA in Eukaryotic Genomes.
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- Genome Biology & Evolution, 2017, v. 9, n. 9, p. 2428, doi. 10.1093/gbe/evx164
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- Publication type:
- Article
The Base Hit: Neurological Diseases and Genetic Susceptibilities to Pesticide Exposures.
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- Environmental Health Perspectives, 2024, v. 132, n. 9, p. 094001-1, doi. 10.1289/EHP15412
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- Publication type:
- Article
Data-Driven Characterization of Genetic Variability in Disease Pathways and Pesticide-Induced Nervous System Disease in the United States Population.
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- Environmental Health Perspectives, 2024, v. 132, n. 5, p. 057003-1, doi. 10.1289/EHP14108
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- Publication type:
- Article
Nigral overexpression of alpha-synuclein in the absence of parkin enhances alpha-synuclein phosphorylation but does not modulate dopaminergic neurodegeneration.
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- Molecular Neurodegeneration, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13024-015-0017-8
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- Publication type:
- Article
Connecting Synaptic Activity with Plasticity-Related Gene Expression: From Molecular Mechanisms to Neurological Disorders.
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- Neural Plasticity, 2016, p. 1, doi. 10.1155/2016/7149527
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- Publication type:
- Article
Twins and T-cell responses.
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- Nature, 1993, v. 364, n. 6434, p. 187, doi. 10.1038/364187a0
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- Publication type:
- Article
Triplet repeats on the rise.
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- Nature, 1993, v. 364, n. 6432, p. 88, doi. 10.1038/364088a0
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- Publication type:
- Article
Alteration in a new gene encoding a putative membrane-organizing protein causes...
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- Nature, 1993, v. 363, n. 6429, p. 515, doi. 10.1038/363515a0
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- Publication type:
- Article
A gene for neurofibromatosis 2.
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- Nature, 1993, v. 363, n. 6429, p. 495, doi. 10.1038/363495a0
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- Publication type:
- Article
Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease.
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- Nature Reviews Neuroscience, 2012, v. 13, n. 7, p. 453, doi. 10.1038/nrn3271
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- Publication type:
- Article
Cnidarian Nerve Nets and Neuromuscular Efficiency.
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- Integrative & Comparative Biology, 2015, v. 55, n. 6, p. 1050, doi. 10.1093/icb/icv067
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- Publication type:
- Article
Multifocal motor neuropathy is not associated with genetic variation in PTPN22, BANK1, Blk, FCGR2B, CD1A/E, and TAG-1 genes.
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- Journal of the Peripheral Nervous System, 2011, v. 16, n. 3, p. 175, doi. 10.1111/j.1529-8027.2011.00354.x
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- Publication type:
- Article
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.
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- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0224-0
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- Publication type:
- Article
Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase.
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- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0225-z
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- Publication type:
- Article
CLCN7‐related neuropathic infantile osteopetrosis in siblings.
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- Pediatrics International, 2021, v. 63, n. 10, p. 1251, doi. 10.1111/ped.14594
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- Publication type:
- Article
The Ability of the Eating Assessment Tool-10 to Detect Aspiration in Patients With Neurological Disorders.
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- Journal of Neurogastroenterology & Motility, 2017, v. 23, n. 4, p. 550, doi. 10.5056/jnm16165
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- Publication type:
- Article
CASE 2 DIAGNOSIS: DOPA-RESPONSIVE DYSTONIA DUE TO GTP CYCLOHYDROLASE 1 DEFICIENCY.
- Published in:
- 2012
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- Publication type:
- Case Study
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
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- Publication type:
- Article
CNV-CH: A Convex Hull Based Segmentation Approach to Detect Copy Number Variations (CNV) Using Next-Generation Sequencing Data.
- Published in:
- PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0135895
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- Publication type:
- Article
Neuro-ichthyotic syndromes: A case series.
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- Journal of Pediatric Neurosciences, 2018, v. 13, n. 1, p. 34, doi. 10.4103/JPN.JPN_54_17
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- Publication type:
- Article
Novel human ABCC9/SUR2 brain-expressed transcripts and an eQTL relevant to hippocampal sclerosis of aging.
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- Journal of Neurochemistry, 2015, v. 134, n. 6, p. 1026, doi. 10.1111/jnc.13202
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- Publication type:
- Article
In this Issue.
- Published in:
- Journal of Neurochemistry, 2014, v. 128, n. 2, p. iii, doi. 10.1111/jnc.12535
- Publication type:
- Article
Neurexins, Neuroligins and LRRTMs: synaptic adhesion getting fishy.
- Published in:
- Journal of Neurochemistry, 2011, v. 117, n. 5, p. 765, doi. 10.1111/j.1471-4159.2010.07141.x
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- Publication type:
- Article
A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome.
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- Journal of Neurology, 2008, v. 255, n. 9, p. 1417, doi. 10.1007/s00415-008-0896-5
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- Publication type:
- Article
Mitochondrial mutations of Leber's hereditary optic neuropathy: a risk factor for multiple sclerosis.
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- Journal of Neurology, 2000, v. 247, n. 7, p. 535, doi. 10.1007/s004150070153
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- 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
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- Publication type:
- Article
Complete mitochondrial genome sequence and mutations of the neuropathic pain model inbred C57BL/6 mice strain.
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- Mitochondrial DNA. Part A, 2016, v. 27, n. 6, p. 4134, doi. 10.3109/19401736.2014.1003879
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- Publication type:
- Article
Inherited 2q23.1 microdeletions involving the MBD5 locus.
- Published in:
- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 5, p. 608, doi. 10.1002/mgg3.316
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- Publication type:
- Article
A Point Mutation in a Herpesvirus Co-Determines Neuropathogenicity and Viral Shedding.
- Published in:
- Viruses (1999-4915), 2017, v. 9, n. 1, p. 6, doi. 10.3390/v9010006
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- Publication type:
- Article