Works matching DE "TRINUCLEOTIDE repeats"
Results: 717
Identification of genes in toxicity pathways of trinucleotide-repeat RNA in C. elegans.
- Published in:
- Nature Structural & Molecular Biology, 2014, v. 21, n. 8, p. 712, doi. 10.1038/nsmb.2858
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- Article
Friedreich's ataxia-associated GAA repeats induce replication-fork reversal and unusual molecular junctions.
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- Nature Structural & Molecular Biology, 2013, v. 20, n. 4, p. 486, doi. 10.1038/nsmb.2520
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- Publication type:
- Article
Incision-dependent and error-free repair of (CAG)<sub>n</sub>/(CTG)<sub>n</sub> hairpins in human cell extracts.
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- Nature Structural & Molecular Biology, 2009, v. 16, n. 8, p. 869, doi. 10.1038/nsmb.1638
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- Article
SRS2 and SGS1 prevent chromosomal breaks and stabilize triplet repeats by restraining recombination.
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- Nature Structural & Molecular Biology, 2009, v. 16, n. 2, p. 159, doi. 10.1038/nsmb.1544
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- Publication type:
- Article
Development of genomic simple sequence repeat markers in opium poppy by next-generation sequencing.
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- Molecular Breeding, 2014, v. 34, n. 2, p. 323, doi. 10.1007/s11032-014-0036-0
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- Publication type:
- Article
Large-scale development of expressed sequence tag-derived simple sequence repeat markers and diversity analysis in Arachis spp.
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- Molecular Breeding, 2012, v. 30, n. 1, p. 125, doi. 10.1007/s11032-011-9604-8
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- Article
Comparative Genetics of Functional Trinucleotide Tandem Repeats in Humans and Apes.
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- Journal of Molecular Evolution, 2004, v. 59, n. 3, p. 329, doi. 10.1007/s00239-004-2628-5
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- Article
Possible Polyphyletic Origin of Major Histocompatibility Complex Class I Chain-Related Gene A (MICA) Alleles.
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- Journal of Molecular Evolution, 2003, v. 57, n. 1, p. 38, doi. 10.1007/s00239-002-2444-8
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- Publication type:
- Article
Uneven Distribution of Repetitive Trinucleotide Motifs in Human Immunoglobulin Heavy Variable Genes.
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- Journal of Molecular Evolution, 2002, v. 54, n. 3, p. 346, doi. 10.1007/s00239-001-0049-2
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- Article
Phylogenetic Analysis of the Friedreich Ataxia GAA Trinucleotide Repeat.
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- Journal of Molecular Evolution, 2001, v. 52, n. 3, p. 232, doi. 10.1007/s002390010151
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- Publication type:
- Article
Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #609 (2002) online http://www.interscience.wiley.com/humanmutation/pdf/mutation/609.pdf)
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 553, doi. 10.1002/humu.9138
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- Publication type:
- Article
Nanopore sequencing method for CTG18.1 expansion in TCF4 in late-onset Fuchs endothelial corneal dystrophy and a comparison of the structural features of cornea with first-degree relatives.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2024, v. 262, n. 3, p. 903, doi. 10.1007/s00417-023-06243-6
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- Publication type:
- Article
Microglia contribute to polyG-dependent neurodegeneration in neuronal intranuclear inclusion disease.
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- Acta Neuropathologica, 2024, v. 148, n. 1, p. 1, doi. 10.1007/s00401-024-02776-0
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- Publication type:
- Article
Huntington's disease brain-derived small RNAs recapitulate associated neuropathology in mice.
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- Acta Neuropathologica, 2021, v. 141, n. 4, p. 565, doi. 10.1007/s00401-021-02272-9
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- Article
Developmental malformations in Huntington disease: neuropathologic evidence of focal neuronal migration defects in a subset of adult brains.
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- Acta Neuropathologica, 2021, v. 141, n. 3, p. 399, doi. 10.1007/s00401-021-02269-4
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- Article
Association and in Silico Assignment of Sequences from Turkey BACs.
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- Animal Biotechnology, 2008, v. 19, n. 2, p. 80, doi. 10.1080/10495390701876209
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- Article
Trinucleotide repeat disorders: an interesting interface between psychiatry and medicine.
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- BJPsych Advances, 2017, v. 23, n. 6, p. 407, doi. 10.1192/apt.bp.117.017467
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- Publication type:
- Article
Association of trinucleotide repeat polymorphisms CAG and GGC in exon 1 of the androgen receptor gene with male infertility: a cross-sectional study.
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- Turkish Journal of Medical Sciences, 2022, v. 52, n. 6, p. 1793, doi. 10.55730/1300-0144.5525
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- Article
Molecular analysis and prevalence of Huntington disease in northwestern Iran.
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- Turkish Journal of Medical Sciences, 2017, v. 47, n. 6, p. 1880, doi. 10.3906/sag-1510-25
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- Publication type:
- Article
Mutation analysis of 6 spinocerebellar ataxia (SCA) types in patients from southern Turkey.
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- Turkish Journal of Medical Sciences, 2015, v. 45, n. 6, p. 1228, doi. 10.3906/sag-1402-101
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- Publication type:
- Article
"Unraveling the Diagnostic Dilemma: Unusual Presentation of Huntington's Disease with Predominant Psychiatric Symptoms and Late-Onset Motor Manifestations".
- Published in:
- 2024
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- Publication type:
- Abstract
Essential information on genetic testing methods that each clinician needs to know/understand.
- Published in:
- European Psychiatry, 2021, v. 64, p. S49, doi. 10.1192/j.eurpsy.2021.157
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- Article
Gellular transport.
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- Journal of Cell Biology, 2006, v. 175, n. 5, p. 678, doi. 10.1083/jcb.1755rr1
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- Article
Loss of Intrinsic Organization of Cerebellar Networks in Spinocerebellar Ataxia Type 1: Correlates with Disease Severity and Duration.
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- Cerebellum, 2011, v. 10, n. 2, p. 218, doi. 10.1007/s12311-010-0214-5
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- Publication type:
- Article
The pathogenesis of spinocerebellar ataxia.
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- Cerebellum, 2005, v. 4, n. 1, p. 62, doi. 10.1080/14734220510007950
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- Publication type:
- Article
CK2 alpha prime and alpha-synuclein pathogenic functional interaction mediates synaptic dysregulation in Huntington's disease.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01379-8
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- Publication type:
- Article
CK2 alpha prime and alpha-synuclein pathogenic functional interaction mediates synaptic dysregulation in Huntington's disease.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01379-8
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- Publication type:
- Article
CK2 alpha prime and alpha-synuclein pathogenic functional interaction mediates synaptic dysregulation in huntington's disease.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01379-8
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- Publication type:
- Article
Identical mutation associated with distinct clinical phenotypes of Friedreich's ataxia: case report.
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- 2014
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- Publication type:
- Case Study
Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia.
- Published in:
- Brain Sciences (2076-3425), 2025, v. 15, n. 2, p. 156, doi. 10.3390/brainsci15020156
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- Publication type:
- Article
Heterogenous Genetic, Clinical, and Imaging Features in Patients with Neuronal Intranuclear Inclusion Disease Carrying NOTCH2NLC Repeat Expansion.
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- Brain Sciences (2076-3425), 2023, v. 13, n. 6, p. 955, doi. 10.3390/brainsci13060955
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- Publication type:
- Article
Upper and Lower Limb Movement Kinematics in Aging FMR1 Gene Premutation Carriers.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 1, p. 13, doi. 10.3390/brainsci11010013
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- Publication type:
- Article
Behavioral Deficits in Juvenile Onset Huntington's Disease.
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- Brain Sciences (2076-3425), 2020, v. 10, n. 8, p. 543, doi. 10.3390/brainsci10080543
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- Publication type:
- Article
Molecular Biomarkers in Fragile X Syndrome.
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- Brain Sciences (2076-3425), 2019, v. 9, n. 5, p. 96, doi. 10.3390/brainsci9050096
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- Publication type:
- Article
Structural and Dynamical Properties of Nucleic Acid Hairpins Implicated in Trinucleotide Repeat Expansion Diseases.
- Published in:
- Biomolecules (2218-273X), 2024, v. 14, n. 10, p. 1278, doi. 10.3390/biom14101278
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- Publication type:
- Article
Robust Preimplantation Genetic Testing Strategy for Myotonic Dystrophy Type 1 by Bidirectional Triplet-Primed Polymerase Chain Reaction Combined With Multi-microsatellite Haplotyping Following Whole-Genome Amplification.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00589
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- Publication type:
- Article
Non-coding RNA in Fragile X Syndrome and Converging Mechanisms Shared by Related Disorders.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00139
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- Publication type:
- Article
Genetic Advancements in Infantile Epileptic Spasms Syndrome and Opportunities for Precision Medicine.
- Published in:
- Genes, 2024, v. 15, n. 3, p. 266, doi. 10.3390/genes15030266
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- Publication type:
- Article
De Novo Mining and Validating Novel Microsatellite Markers to Assess Genetic Diversity in Maruca vitrata (F.), a Legume Pod Borer.
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- Genes, 2023, v. 14, n. 7, p. 1433, doi. 10.3390/genes14071433
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- Publication type:
- Article
Flap Endonuclease 1 Endonucleolytically Processes RNA to Resolve R-Loops through DNA Base Excision Repair.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 98, doi. 10.3390/genes14010098
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- Publication type:
- Article
Drosophila melanogaster as a Model to Study Fragile X-Associated Disorders.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 87, doi. 10.3390/genes14010087
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- Publication type:
- Article
Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review.
- Published in:
- 2022
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- Publication type:
- Case Study
Expression Profiles of Microsatellites in Fruit Tissues of Akebia trifoliata and Development of Efficient EST-SSR Markers.
- Published in:
- Genes, 2022, v. 13, n. 8, p. 1451, doi. 10.3390/genes13081451
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- Publication type:
- Article
Bioinformatics Analysis of the Interaction of miRNAs and piRNAs with Human mRNA Genes Having di- and Trinucleotide Repeats.
- Published in:
- Genes, 2022, v. 13, n. 5, p. 800, doi. 10.3390/genes13050800
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- Publication type:
- Article
Roles of the Core Components of the Mammalian miRISC in Chromatin Biology.
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- Genes, 2022, v. 13, n. 3, p. 414, doi. 10.3390/genes13030414
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- Publication type:
- Article
Lower Fractions of TCF4 Transcripts Spanning over the CTG18.1 Trinucleotide Repeat in Human Corneal Endothelium.
- Published in:
- Genes, 2021, v. 12, n. 12, p. 2006, doi. 10.3390/genes12122006
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- Publication type:
- Article
Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?
- Published in:
- Genes, 2021, v. 12, n. 12, p. 1918, doi. 10.3390/genes12121918
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- Publication type:
- Article
Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis.
- Published in:
- 2021
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- Publication type:
- Case Study
Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes.
- Published in:
- Genes, 2021, v. 12, n. 11, p. 1669, doi. 10.3390/genes12111669
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- Publication type:
- Article
New Evidence for the Theory of Chromosome Organization by Repetitive Elements (CORE).
- Published in:
- Genes, 2017, v. 8, n. 2, p. 81, doi. 10.3390/genes8020081
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- Publication type:
- Article