Works matching DE "MYOTONIA atrophica"
Results: 1107
Mosaicism in Short Tandem Repeat Disorders: A Clinical Perspective.
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- Genes, 2025, v. 16, n. 2, p. 216, doi. 10.3390/genes16020216
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- Publication type:
- Article
Dynamic changes of nuclear RNA foci in proliferating DM1 cells.
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- Histochemistry & Cell Biology, 2015, v. 143, n. 6, p. 557, doi. 10.1007/s00418-015-1315-5
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- Article
Nuclear ribonucleoprotein-containing foci increase in size in non-dividing cells from patients with myotonic dystrophy type 2.
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- Histochemistry & Cell Biology, 2012, v. 138, n. 4, p. 699, doi. 10.1007/s00418-012-0984-6
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- Article
RNA processing is altered in skeletal muscle nuclei of patients affected by myotonic dystrophy.
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- Histochemistry & Cell Biology, 2011, v. 135, n. 4, p. 419, doi. 10.1007/s00418-011-0797-z
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- Article
Rhabdomyolysis Caused by Tocolysis with Oral Ritodrine Hydrochloride in a Pregnant Patient with Myotonic Dystrophy.
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- Gynecologic & Obstetric Investigation, 2006, v. 61, n. 1, p. 53, doi. 10.1159/000088531
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- Article
Left Bundle Branch Optimized Implantable Cardioverter Defibrillator (LOTICD) Implantation in a Patient with Myotonic Dystrophy.
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- European Journal of Therapeutics, 2024, v. 30, n. 3, p. 362, doi. 10.58600/eurjther2038
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- Article
Psychiatric Presentation in a Patient with Myotonic Dystrophy: A Case Report.
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- 2022
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- Publication type:
- Case Study
Successful evacuation of a PEG probe plate in the oesophagus of a 16 week old child with myotonic dystrophy. An interdisciplinary approach.
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- Pediatric Anesthesia & Critical Care Journal (PACCJ), 2020, v. 8, n. 1, p. 22, doi. 10.14587/paccj.2020.4
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- Article
Correction to: A case of myotonic dystrophy type 1 with severe dilated cardiomyopathy: an unusual presenting manifestation of the most common muscular dystrophy in adults.
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- 2024
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- Correction Notice
Myotonic dystrophy type 1 in South Korea: a comprehensive analysis of cancer and comorbidity risks.
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- Neurological Sciences, 2024, v. 45, n. 9, p. 4573, doi. 10.1007/s10072-024-07527-3
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- Article
Further insights into afterdischarges as a diagnostic marker for myotonic dystrophy type 1.
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- Neurological Sciences, 2024, v. 45, n. 2, p. 817, doi. 10.1007/s10072-023-07121-z
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- Article
Afterdischarges in myotonic dystrophy type 1.
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- Neurological Sciences, 2024, v. 45, n. 2, p. 735, doi. 10.1007/s10072-023-07013-2
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- Publication type:
- Article
Myotonic dystrophy type 1 in the COVID-19 era.
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- Neurological Sciences, 2023, v. 44, n. 7, p. 2231, doi. 10.1007/s10072-023-06834-5
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- Publication type:
- Article
Development of prediction models based on respiratory assessments to determine the need for non-invasive ventilation in patients with myotonic dystrophy type 1.
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- Neurological Sciences, 2023, v. 44, n. 6, p. 2149, doi. 10.1007/s10072-023-06631-0
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- Publication type:
- Article
Clinical score for early diagnosis of myotonic dystrophy type 2.
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- Neurological Sciences, 2023, v. 44, n. 3, p. 1059, doi. 10.1007/s10072-022-06507-9
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- Publication type:
- Article
Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia.
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- Neurological Sciences, 2021, v. 42, n. 12, p. 5365, doi. 10.1007/s10072-021-05538-y
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- Article
Myotonic dystrophy type 1 cosegregating with autosomal dominant polycystic kidney disease type 2.
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- 2020
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- Publication type:
- Letter
MyomiRNAs and myostatin as physical rehabilitation biomarkers for myotonic dystrophy.
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- Neurological Sciences, 2020, v. 41, n. 10, p. 2953, doi. 10.1007/s10072-020-04409-2
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- Publication type:
- Article
Abnormal nuclear aggregation and myotube degeneration in myotonic dystrophy type 1.
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- 2019
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- Publication type:
- journal article
Body composition analysis in patients with myotonic dystrophy types 1 and 2.
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- 2019
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- Publication type:
- journal article
Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle.
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- 2019
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- Publication type:
- journal article
A case of facioscapulohumeral muscular dystrophy and myasthenia gravis with positivity of anti-Ach receptor antibody: a fortuitous association?
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- 2019
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- Publication type:
- Case Study
Diastolic heart dysfunction is correlated with CTG repeat length in myotonic dystrophy type 1.
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- 2018
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- Publication type:
- journal article
Imaging of the thymus in myotonic dystrophy type 1.
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- 2018
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- Publication type:
- journal article
Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects.
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- 2017
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- journal article
Micro-RNA expression in muscle and fiber morphometry in myotonic dystrophy type 1.
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- 2017
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- Publication type:
- journal article
Highlights of the Issue 4, 2017.
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- 2017
- Publication type:
- journal article
Clusters of cognitive impairment among different phenotypes of myotonic dystrophy type 1 and type 2.
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- 2017
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- Publication type:
- journal article
Drug resistant focal epilepsy in a patient with myotonic dystrophy type 2: casual or causal association?
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- 2016
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- Publication type:
- Case Study
Generalized epilepsy in a patient with myotonic dystrophy type 2.
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- 2014
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- Publication type:
- Letter
Myotonic dystrophy and lipoma: a new association.
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- 2012
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- Publication type:
- Letter
Myotonic dystrophy type 2 and autoimmune chronic gastritis: an incidental association?
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- 2011
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- Publication type:
- Letter
Retrospective study on PET-SPECT imaging in a large cohort of myotonic dystrophy type 1 patients.
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- Neurological Sciences, 2010, v. 31, n. 6, p. 757, doi. 10.1007/s10072-010-0406-2
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- Publication type:
- Article
Chronic exercise mitigates disease mechanisms and improves muscle function in myotonic dystrophy type 1 mice.
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- Journal of Physiology, 2019, v. 597, n. 5, p. 1361, doi. 10.1113/JP277123
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- Publication type:
- Article
Muscle force and other factors for falls in myotonic dystrophy type 1: studies of persons with a rare disease.
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- European Journal of Physiotherapy, 2017, v. 19, p. 66, doi. 10.1080/21679169.2017.1381310
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- Publication type:
- Article
Postural control in the congenital and childhood forms of myotonic dystrophy type 1.
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- European Journal of Physiotherapy, 2017, v. 19, n. 1, p. 24, doi. 10.1080/21679169.2016.1229028
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- Publication type:
- Article
Effects of a balance exercise programme in myotonic dystrophy type 1: A pilot study.
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- European Journal of Physiotherapy, 2015, v. 17, n. 3, p. 123, doi. 10.3109/21679169.2015.1049204
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- Publication type:
- Article
Fatigue, exzessive Tagesschläfrigkeit und schlafbezogene Atmungsstörungen bei myotonen Dystrophien.
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- Somnologie, 2011, v. 15, n. 1, p. 47, doi. 10.1007/s11818-011-0509-x
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- Publication type:
- Article
Developing small Cas9 hybrids using molecular modeling.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-68107-1
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- Publication type:
- Article
Transcriptome Analysis Reveals Altered Inflammatory Pathway in an Inducible Glial Cell Model of Myotonic Dystrophy Type 1.
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- Biomolecules (2218-273X), 2021, v. 11, n. 2, p. 159, doi. 10.3390/biom11020159
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- Publication type:
- Article
VP16.02: Genetic findings in isolated bilateral club foot detected by prenatal ultrasound.
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- Ultrasound in Obstetrics & Gynecology, 2021, v. 58, p. 163, doi. 10.1002/uog.24270
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- Article
Optimal care of autosomal dominant polycystic kidney disease patients (Review Article).
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- Nephrology, 2006, v. 11, n. 2, p. 124, doi. 10.1111/j.1440-1797.2006.00535.x
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- Article
Two Cases of Endometrial Cancer in Twin Sisters with Myotonic Dystrophy.
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- 2016
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- Publication type:
- Case Study
Occlusal traits and longitudinal dental changes in children and adolescents with congenital or childhood onset myotonic dystrophy.
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- European Journal of Orthodontics, 2021, v. 43, n. 5, p. 527, doi. 10.1093/ejo/cjaa068
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- Publication type:
- Article
Craniofacial morphology and growth in young patients with congenital or childhood onset myotonic dystrophy.
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- European Journal of Orthodontics, 2018, v. 40, n. 5, p. 544, doi. 10.1093/ejo/cjx104
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- Publication type:
- Article
Impact of mirror movements on the bimanual hand function and functional independence with comparison of the bimanual hand function in children suffering from spastic cerebral palsy, with and without mirror movements.
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- Timisoara Physical Education & Rehabilitation Journal, 2019, v. 12, n. 23, p. 39, doi. 10.2478/tperj-2019-0012
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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
Management of anesthesia in a pediatric patient with myotonic dystrophy type 1. Case report.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Diastolic function in Steinert's disease.
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- Neurology International, 2014, v. 6, n. 1, p. 6, doi. 10.4081/ni.2014.5140
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- Publication type:
- Article
Structural myocardial involvement in adult patients with type 1 myotonic dystrophy.
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- Neurology International, 2013, v. 5, n. 1, p. 13, doi. 10.4081/ni.2013.e5
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- Publication type:
- Article