Works matching DE "MYOTONIA atrophica"
Results: 1106
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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- Publication type:
- Article
Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy.
- Published in:
- Nature Structural & Molecular Biology, 2011, v. 18, n. 7, p. 840, doi. 10.1038/nsmb.2067
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- Publication type:
- Article
Selective silencing of mutated mRNAs in DM1 by using modified hU7-snRNAs.
- Published in:
- Nature Structural & Molecular Biology, 2011, v. 18, n. 1, p. 85, doi. 10.1038/nsmb.1958
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- Publication type:
- Article
Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus.
- Published in:
- Nature Structural & Molecular Biology, 2010, v. 17, n. 9, p. 1079, doi. 10.1038/nsmb.1876
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- Publication type:
- Article
Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy.
- Published in:
- Nature Structural & Molecular Biology, 2010, v. 17, n. 2, p. 187, doi. 10.1038/nsmb.1720
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- Publication type:
- Article
Two ways to misregulate mRNAs in myotonic dystrophy.
- Published in:
- Nature Structural & Molecular Biology, 2010, v. 17, n. 2, p. 141, doi. 10.1038/nsmb0210-141
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- Publication type:
- Article
Abstracts of the Scientific Literature.
- Published in:
- 2007
- Publication type:
- Abstract
Bachmann bundle pacing reduces atrial electromechanical delay in type 1 myotonic dystrophy patients.
- Published in:
- 2018
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- Publication type:
- journal article
Polypoidal choroidal vasculopathy in a patient with DMPK-associated myotonic dystrophy.
- Published in:
- 2022
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- Publication type:
- Case Study
Ocular findings in a Spanish cohort of myotonic dystrophy type 1.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2023, v. 261, n. 4, p. 1109, doi. 10.1007/s00417-022-05875-4
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- Publication type:
- Article
A myotonic dystrophy 1 patient complicated with placental adherence after miscarriage of one dichorionic diamniotic twin following her tenth in vitro fertilization and embryo transfer.
- Published in:
- 2012
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- Publication type:
- Letter
Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2.
- Published in:
- Acta Neuropathologica, 2010, v. 119, n. 4, p. 465, doi. 10.1007/s00401-010-0637-6
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- Publication type:
- Article
Congenital myotonic dystrophy can show congenital fiber type disproportion pathology.
- Published in:
- Acta Neuropathologica, 2010, v. 119, n. 4, p. 481, doi. 10.1007/s00401-010-0660-7
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- Publication type:
- Article
Targeting nuclear RNA for in vivo correction of myotonic dystrophy.
- Published in:
- Nature, 2012, v. 488, n. 7409, p. 111, doi. 10.1038/nature11362
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- Publication type:
- Article
The Impact of Myotonic Muscular Dystrophy Type 1 On the Central Nervous System.
- Published in:
- International Journal of High School Research, 2025, v. 7, n. 2, p. 121, doi. 10.36838/v7i2.16
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- Publication type:
- Article
No increase in the CTG repeat size during transmission from parent with expanded allele: false suspicion of contraction phenomenon.
- Published in:
- Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, 2023, v. 4, n. 2, p. 185, doi. 10.1515/almed-2022-0079
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- Publication type:
- Article
Left Bundle Branch Optimized Implantable Cardioverter Defibrillator (LOTICD) Implantation in a Patient with Myotonic Dystrophy.
- Published in:
- European Journal of Therapeutics, 2024, v. 30, n. 3, p. 362, doi. 10.58600/eurjther2038
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- Publication type:
- Article
Three-dimensional assessment of pharyngeal airway in individuals with myotonic dystrophy type 1.
- Published in:
- Turkish Journal of Medical Sciences, 2021, v. 51, n. 6, p. 3022, doi. 10.3906/sag-2105-106
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- Publication type:
- Article
The Assessment of A Family With Myotonic Dystrophy.
- Published in:
- 2004
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- Publication type:
- Case Study
The RNA-binding protein Staufen1 is increased in DM1 skeletal muscle and promotes alternative pre-mRNA splicing.
- Published in:
- Journal of Cell Biology, 2012, v. 196, n. 6, p. 699, doi. 10.1083/jcb.201108113
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- Publication type:
- Article
Defining early steps in mRNA transport: mutant mRNA in myotonic dystrophy type I is blocked at entry into SC-35 domains.
- Published in:
- Journal of Cell Biology, 2007, v. 178, n. 6, p. 951, doi. 10.1083/jcb.200706048
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- Publication type:
- Article
Coenzyme Q improves mitochondrial and muscle dysfunction caused by CUG expanded repeats in Caenorhabditis elegans.
- Published in:
- Genetics, 2025, v. 229, n. 2, p. 1, doi. 10.1093/genetics/iyae208
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- Publication type:
- Article
Loss of muscleblind splicing factor shortens Caenorhabditis elegans lifespan by reducing the activity of p38 MAPK/PMK-1 and transcription factors ATF-7 and Nrf/SKN-1.
- Published in:
- Genetics, 2021, v. 219, n. 2, p. 1, doi. 10.1093/genetics/iyab114
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- Publication type:
- Article
Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis.
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- Neuroepidemiology, 2022, v. 56, n. 3, p. 163, doi. 10.1159/000524734
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- Publication type:
- Article
Diffuse xanthogranulomatous pyelonephritis in a patient with myotonic dystrophy and cerebral palsy.
- Published in:
- International Journal of Urology, 2005, v. 12, n. 5, p. 497, doi. 10.1111/j.1442-2042.2005.01080.x
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- Publication type:
- Article
A premature babywith bilateral pleural effusions, Turner syndrome (monosomy X) and myotonic dystrophy.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
A New View of the T-Loop Junction: Implications for Self-Primed Telomere Extension, Expansion of Disease-Related Nucleotide Repeat Blocks, and Telomere Evolution.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00792
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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
MYOTONIC DYSTROPHY - A REVIEW.
- Published in:
- International Journal of Pharmaceutical, Chemical & Biological Sciences, 2015, v. 5, n. 3, p. 719
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- Publication type:
- Article
Masticatory muscle activity in myotonic dystrophy patients.
- Published in:
- Journal of Oral Rehabilitation, 1996, v. 23, n. 1, p. 5, doi. 10.1111/j.1365-2842.1996.tb00804.x
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- Publication type:
- Article
Ultrasound imaging of the masseter muscle in myotonic dystrophy patients.
- Published in:
- Journal of Oral Rehabilitation, 1995, v. 22, n. 8, p. 619, doi. 10.1111/j.1365-2842.1995.tb01059.x
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- Publication type:
- Article
Psychiatric and cognitive phenotype in children and adolescents with myotonic dystrophy.
- Published in:
- European Child & Adolescent Psychiatry, 2009, v. 18, n. 12, p. 705, doi. 10.1007/s00787-009-0037-4
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- Publication type:
- Article
Total intravenous anesthesia in a 10-month-old patient with congenital myotonic dystrophy undergoing endoscopic third ventriculostomy.
- Published in:
- Korean Journal of Anesthesiology, 2012, v. 63, n. 2, p. 169, doi. 10.4097/kjae.2012.63.2.169
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- Publication type:
- Article
Two Mutations in Thyroid Hormone Receptor Beta Gene (P453A and C36Y) in a Family with Resistance to Thyroid Hormone with Comorbid Myotonic Dystrophy.
- Published in:
- Thyroid, 2019, v. 29, n. 4, p. 607, doi. 10.1089/thy.2018.0307
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- Publication type:
- Article
Diabetes, metformin and cancer risk in myotonic dystrophy type I.
- Published in:
- International Journal of Cancer, 2020, v. 147, n. 3, p. 785, doi. 10.1002/ijc.32801
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- Publication type:
- Article
Correction of Clcn1 alternative splicing reverses muscle fiber type transition in mice with myotonic dystrophy.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37619-1
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- Publication type:
- Article
Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31594-9
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- Publication type:
- Article
Managing thyroid cancer in Steinert's disease: the role of radiofrequency ablation.
- Published in:
- 2023
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- Publication type:
- Case Study
Mosaicism in Short Tandem Repeat Disorders: A Clinical Perspective.
- Published in:
- Genes, 2025, v. 16, n. 2, p. 216, doi. 10.3390/genes16020216
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- Publication type:
- Article
Intergenerational Influence of Gender and the DM1 Phenotype of the Transmitting Parent in Korean Myotonic Dystrophy Type 1.
- Published in:
- Genes, 2022, v. 13, n. 8, p. 1465, doi. 10.3390/genes13081465
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- Publication type:
- Article
High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1.
- Published in:
- Genes, 2022, v. 13, n. 6, p. 970, doi. 10.3390/genes13060970
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- Publication type:
- Article
Myotonic Dystrophies: A Genetic Overview.
- Published in:
- Genes, 2022, v. 13, n. 2, p. 367, doi. 10.3390/genes13020367
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- Publication type:
- Article
Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1.
- Published in:
- Genes, 2020, v. 11, n. 11, p. 1321, doi. 10.3390/genes11111321
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- Publication type:
- Article
An Overview of Alternative Splicing Defects Implicated in Myotonic Dystrophy Type I.
- Published in:
- Genes, 2020, v. 11, n. 9, p. 1109, doi. 10.3390/genes11091109
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- Publication type:
- Article
Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1.
- Published in:
- Genes, 2020, v. 11, n. 8, p. 936, doi. 10.3390/genes11080936
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- Publication type:
- Article
The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1.
- Published in:
- Genes, 2020, v. 11, n. 7, p. 757, doi. 10.3390/genes11070757
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- Publication type:
- Article
Altered Ca<sup>2+</sup> Homeostasis and Endoplasmic Reticulum Stress in Myotonic Dystrophy Type 1 Muscle Cells.
- Published in:
- Genes, 2013, v. 4, n. 2, p. 275, doi. 10.3390/genes4020275
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- Publication type:
- Article
A 5-year follow-up study of an atypical case of myotonic dystrophy.
- Published in:
- Brain Injury, 2005, v. 19, n. 14, p. 1213, doi. 10.1080/02699050500283509
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- Publication type:
- Article
Multiple Pilomatricomas, Sternal Cleft and Mild Coagulative Defect.
- Published in:
- Acta Dermato-Venereologica, 2000, v. 80, n. 1, p. 77, doi. 10.1080/000155500750012739
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- Publication type:
- Article
Endometriosis as Initial Manifestation of Myotonic Dystrophy Type-2.
- Published in:
- Journal of Neurosciences in Rural Practice, 2021, v. 12, n. 1, p. 219, doi. 10.1055/s-0040-1721545
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- Publication type:
- Article