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Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations.
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- Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 40, doi. 10.1186/1750-1172-6-40
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- Article
The Long Non-Coding RNA HOXA-AS2 Promotes Proliferation of Glioma Stem Cells and Modulates Their Inflammation Pathway Mainly through Post-Transcriptional Regulation.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 9, p. 4743, doi. 10.3390/ijms23094743
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- Article
Genes involved in leukodystrophies: A glance at glial functions.
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- Current Neurology & Neuroscience Reports, 2008, v. 8, n. 3, p. 217, doi. 10.1007/s11910-008-0034-x
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- Article
Widespread overexpression from the four DNA hypermethylated HOX clusters in aggressive (IDHwt) glioma is associated with H3K27me3 depletion and alternative promoter usage.
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- Molecular Oncology, 2021, v. 15, n. 8, p. 1995, doi. 10.1002/1878-0261.12944
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- Article
Relevance of SOX17 Variants for Hypomyelinating Leukodystrophies and Congenital Anomalies of the Kidney and Urinary Tract (CAKUT).
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- Annals of Human Genetics, 2012, v. 76, n. 3, p. 261, doi. 10.1111/j.1469-1809.2011.00702.x
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- Article
The tumoral A genotype of the MGMT rs34180180 single-nucleotide polymorphism in aggressive gliomas is associated with shorter patients' survival.
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- Carcinogenesis, 2016, v. 37, n. 2, p. 169, doi. 10.1093/carcin/bgv251
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- Article
Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus‐Merzbacher disease.
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- Brain Pathology, 2018, v. 28, n. 5, p. 611, doi. 10.1111/bpa.12571
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- Article
Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease.
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- Annals of Neurology, 2012, v. 71, n. 1, p. 146, doi. 10.1002/ana.22295
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- Article
Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.
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- Annals of Neurology, 2009, v. 65, n. 1, p. 114, doi. 10.1002/ana.21579
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- Article
Insertion of mutant proteolipid protein results in missorting of myelin proteins (This article is a US Government work and, as such, is in the public domain in the United States of America.).
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- Annals of Neurology, 2003, v. 54, n. 6, p. 769
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- Article
L1 chimeric transcripts are expressed in healthy brain and their deregulation in glioma follows that of their host locus.
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- Human Molecular Genetics, 2022, v. 31, n. 15, p. 2606, doi. 10.1093/hmg/ddac056
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- Article
Detection of the alternative lengthening of telomeres pathway in malignant gliomas for improved molecular diagnosis.
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- Journal of Neuro-Oncology, 2017, v. 135, n. 2, p. 381, doi. 10.1007/s11060-017-2585-7
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- Article
Relevance of Different Cellular Models in Determining the Effects of Mutations on SLC16 A2/ MCT8 Thyroid Hormone Transporter Function and Genotype-Phenotype Correlation.
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- Human Mutation, 2013, v. 34, n. 7, p. 1018, doi. 10.1002/humu.22331
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- Article
PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations.
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- Human Mutation, 2008, v. 29, n. 8, p. 1028, doi. 10.1002/humu.20758
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- Article
DNA methylation patterns in hereditaryhuman cancers mimic sporadic tumorigenesis.
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- Human Molecular Genetics, 2001, v. 10, n. 26, p. 3001, doi. 10.1093/hmg/10.26.3001
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- Article
Fluorescent mRNA labeling through cytoplasmic FISH.
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- Nature Protocols, 2013, v. 8, n. 12, p. 2538, doi. 10.1038/nprot.2013.160
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- Article
PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: identification of one partial triplication and two partial deletions of PLP1.
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- Neurogenetics, 2006, v. 7, n. 1, p. 31, doi. 10.1007/s10048-005-0021-1
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- Article
CLIFinder: identification of LINE-1 chimeric transcripts in RNA-seq data.
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- Bioinformatics, 2018, v. 34, n. 4, p. 688, doi. 10.1093/bioinformatics/btx671
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- Article