Works matching DE "TRINUCLEOTIDE repeats"
Results: 717
The FGF14 GAA repeat expansion is a major cause of ataxia in the Cypriot population.
- Published in:
- Brain Communications, 2025, v. 7, n. 1, p. 1, doi. 10.1093/braincomms/fcae479
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- Article
Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia.
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- Brain Sciences (2076-3425), 2025, v. 15, n. 2, p. 156, doi. 10.3390/brainsci15020156
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- Article
Nigrostriatal Degeneration Underpins Sensorimotor Dysfunction in an Inducible Mouse Model of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).
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- International Journal of Molecular Sciences, 2025, v. 26, n. 4, p. 1511, doi. 10.3390/ijms26041511
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- Article
Development and characterization of genic SSR markers for mungbean (<i>Vigna radiata</i> (L.) Wilczek)
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- Euphytica, 2014, v. 195, n. 2, p. 245, doi. 10.1007/s10681-013-0993-0
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- Article
Characterization of dinucleotide and trinucleotide EST-derived microsatellites in the wheat genome.
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- Euphytica, 2007, v. 153, n. 1/2, p. 73, doi. 10.1007/s10681-006-9243-z
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- Article
Comparative study on the population genetics of the red algae Furcellaria lumbricalis occupying different salinity conditions.
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- Marine Biology, 2012, v. 159, n. 3, p. 561, doi. 10.1007/s00227-011-1835-z
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- Article
Population genetics of the nurse shark ( Ginglymostoma cirratum) in the western Atlantic.
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- Marine Biology, 2012, v. 159, n. 3, p. 489, doi. 10.1007/s00227-011-1828-y
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- Article
Study of telomere length in men who carry a fragile X premutation or full mutation allele.
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- Human Genetics, 2020, v. 139, n. 12, p. 1531, doi. 10.1007/s00439-020-02194-8
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- Article
The newly developed genomic-SSR markers uncover the genetic characteristics and relationships of olive accessions.
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- PeerJ, 2020, p. 1, doi. 10.7717/peerj.8573
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- Article
Electrophysiological and neuropsychological assessment of cognition in spinocerebellar ataxia type 1 patients: a pilot study.
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- Neurological Sciences, 2023, v. 44, n. 5, p. 1597, doi. 10.1007/s10072-022-06597-5
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- Article
Muscle and skin fibroblast TDP-43 expression, dynamic mutation analysis of NOTCH2NLC and C9orf72 in patients with FOSMN.
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- 2022
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- Publication type:
- journal article
Screening for intermediate CGG alleles of FMR1 gene in male Iranian patients with Parkinsonism.
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- Neurological Sciences, 2017, v. 38, n. 1, p. 123, doi. 10.1007/s10072-016-2723-6
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- Article
Possible anticipation associated with a novel splice site mutation in episodic ataxia type 2.
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- Neurological Sciences, 2013, v. 34, n. 9, p. 1629, doi. 10.1007/s10072-013-1298-8
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- Publication type:
- Article
Variations of frataxin protein levels in normal individuals.
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- Neurological Sciences, 2011, v. 32, n. 2, p. 327, doi. 10.1007/s10072-010-0326-1
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- Publication type:
- Article
DEVELOPMENT AND EVALUATION OF MICROSATELLITE MARKERS FOR ACER MIYABEI (SAPINDACEAE), A THREATENED MAPLE SPECIES IN EAST ASIA.
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- Applications in Plant Sciences, 2015, v. 3, n. 6, p. 1, doi. 10.3732/apps.1500020
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- Publication type:
- Article
Microsatellite Characterization and Marker Development from Public EST and WGS Databases in the Reef-Building Coral Acropora millepora (Cnidaria, Anthozoa, Scleractinia).
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- Journal of Heredity, 2009, v. 100, n. 3, p. 329, doi. 10.1093/jhered/esn100
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- Article
A Weak Effect of Background Selection on Trinucleotide Microsatellites in Maize.
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- Journal of Heredity, 2008, v. 99, n. 1, p. 45, doi. 10.1093/jhered/esm082
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- Publication type:
- Article
Highly polymorphic di- and trinucleotide microsatellite markers for the grapevine yellows disease vector Hyalesthes obsoletus (Auchenorrhyncha: Cixiidae).
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- European Journal of Entomology, 2011, v. 108, n. 1, p. 161, doi. 10.14411/eje.2011.019
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- Article
Identification and Characterization of Microsatellites in Expressed Sequence Tags and Their Cross Transferability in Different Plants.
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- International Journal of Genomics, 2014, p. 1, doi. 10.1155/2014/863948
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- Publication type:
- Article
BASES GENÉTICAS Y BIOLÓGICAS DEL SÍNDROME DE X FRÁGIL.
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- Ciencia en Desarrollo, 2012, v. 4, n. 1, p. 9
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- Publication type:
- Article
Effects of trimer repeats on Psidium guajava L. gene expression and prospection of functional microsatellite markers.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-60417-8
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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.
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- Biomolecules (2218-273X), 2024, v. 14, n. 10, p. 1278, doi. 10.3390/biom14101278
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- Article
Sleep complaints in patients with myotonic dystrophy.
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- Journal of Sleep Research, 2004, v. 13, n. 1, p. 95, doi. 10.1111/j.1365-2869.2004.00385.x
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- Publication type:
- Article
Developing microsatellites when they are rare: trinucleotide repeat loci in the northern mockingbird Mimus polyglottos.
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- Molecular Ecology, 1997, v. 6, n. 11, p. 1099, doi. 10.1046/j.1365-294X.1997.d01-109.x
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- Article
CAG Repeats in the androgen receptor gene is associated with oligozoospermia and teratozoospermia in infertile men in Jordan.
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- Andrologia, 2020, v. 52, n. 9, p. 1, doi. 10.1111/and.13728
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- Article
Study of trinucleotide expansions and expression of androgen receptor in infertile men with abnormal spermogram referred to Royan institute.
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- Andrologia, 2018, v. 50, n. 10, p. N.PAG, doi. 10.1111/and.13121
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- Article
CAG-repeat polymorphisms in the polymerase γ gene and male infertility: a meta-analysis.
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- Andrologia, 2016, v. 48, n. 9, p. 882, doi. 10.1111/and.12526
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- Publication type:
- Article
A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1.
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- 2023
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- Publication type:
- Case Study
Abnormal Base Excision Repair at Trinucleotide Repeats Associated with Diseases: A Tissue-Selective Mechanism.
- Published in:
- Genes, 2013, v. 4, n. 3, p. 376, doi. 10.3390/genes4030375
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- Article
Development of Novel Genomewide Simple Sequence Repeat Markers for Acer truncatum Bunge and Assessment of Their Transferability to Other Closely Related Species.
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- Forests (19994907), 2024, v. 15, n. 4, p. 635, doi. 10.3390/f15040635
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- Article
Tissue-dependent regulation of RNAP II dynamics.
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- Transcription (2154-1264), 2013, v. 4, n. 4, p. 172, doi. 10.4161/trns.25971
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- Publication type:
- Article
Diversification of the P genome among Agropyron Gaertn. (Poaceae) species detected by FISH.
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- Comparative Cytogenetics, 2017, v. 11, n. 3, p. 495, doi. 10.3897/CompCytogen.v11i3.13124
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- Publication type:
- Article
SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene.
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- Acta Neurologica Scandinavica, 2012, v. 125, n. 2, p. 116, doi. 10.1111/j.1600-0404.2011.01504.x
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- Publication type:
- Article
Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan.
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- Acta Neurologica Scandinavica, 2004, v. 109, n. 5, p. 355, doi. 10.1046/j.1600-0404.2003.00229.x
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- Publication type:
- Article
Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy.
- Published in:
- PLoS ONE, 2019, v. 14, n. 7, p. 1, doi. 10.1371/journal.pone.0219446
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- Publication type:
- Article
Meso scale discovery-based assays for the detection of aggregated huntingtin.
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- PLoS ONE, 2019, v. 14, n. 3, p. 1, doi. 10.1371/journal.pone.0213521
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- Publication type:
- Article
Ethidium Bromide Modifies The Agarose Electrophoretic Mobility of CAG·CTG Alternative DNA Structures Generated by PCR.
- Published in:
- Frontiers in Cellular Neuroscience, 2017, v. 11, p. 1, doi. 10.3389/fncel.2017.00153
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- Publication type:
- Article
Reduction of Huntington's Disease RNA Foci by CAG Repeat-Targeting Reagents.
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- Frontiers in Cellular Neuroscience, 2017, v. 11, p. 1, doi. 10.3389/fncel.2017.00082
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- Publication type:
- Article
Regulation of mRNA Translation by MID1: A Common Mechanism of Expanded CAG Repeat RNAs.
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- Frontiers in Cellular Neuroscience, 2016, v. 10, p. 1, doi. 10.3389/fncel.2016.00226
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- Publication type:
- Article
Event-related potential alterations in fragile X syndrome.
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- Frontiers in Human Neuroscience, 2012, v. 6, p. 1, doi. 10.3389/fnhum.2012.00264
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- Publication type:
- Article
Mechanistic Insights into the Binding of Class IIa HDAC Inhibitors toward Spinocerebellar Ataxia Type-2: A 3D-QSAR and Pharmacophore Modeling Approach.
- Published in:
- Frontiers in Neuroscience, 2017, v. 10, p. 1, doi. 10.3389/fnins.2016.00606
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- Publication type:
- Article
Allele-specific silencing of mutant huntingtin and ataxin-3 genes by targeting expanded CAG repeats in mRNAs.
- Published in:
- Nature Biotechnology, 2009, v. 27, n. 5, p. 478, doi. 10.1038/nbt.1539
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- Publication type:
- Article
Repetitive sequences that shape the human transcriptome
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- FEBS Letters, 2004, v. 567, n. 1, p. 136, doi. 10.1016/j.febslet.2004.03.109
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- Publication type:
- Article
Depressed Synaptic Transmission and Reduced Vesicle Release Sites in Huntington's Disease Neuromuscular Junctions.
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- Journal of Neuroscience, 2017, v. 37, n. 34, p. 8077, doi. 10.1523/JNEUROSCI.0313-17.2017
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- Publication type:
- Article
p62/SQSTMl Differentially Removes the Toxic Mutant Androgen Receptor via Autophagy and Inclusion Formation in a Spinal and Bulbar Muscular Atrophy Mouse Model.
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- Journal of Neuroscience, 2013, v. 33, n. 18, p. 7710, doi. 10.1523/JNEUROSCI.3021-12.2013
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- Publication type:
- Article
Quantifying Replication Slippage Error in Cryptosporidium Metabarcoding Studies.
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- Journal of Infectious Diseases, 2024, v. 230, n. 1, p. e144, doi. 10.1093/infdis/jiae065
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- Publication type:
- Article