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Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 12, p. 5365, doi. 10.1007/s10072-021-05538-y
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- Publication type:
- Article
Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects.
- Published in:
- 2017
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- Publication type:
- journal article
Myotonic dystrophy type 2 and autoimmune chronic gastritis: an incidental association?
- Published in:
- 2011
- By:
- Publication type:
- Letter
A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.668094
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- Publication type:
- Article
TNNT2 Missplicing in Skeletal Muscle as a Cardiac Biomarker in Myotonic Dystrophy Type 1 but Not in Myotonic Dystrophy Type 2.
- Published in:
- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00992
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- Publication type:
- Article
Neuropsychological and Psychological Functioning Aspects in Myotonic Dystrophy Type 1 Patients in Italy.
- Published in:
- Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00751
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- Publication type:
- Article
Flecainide-Induced Brugada Syndrome in a Patient With Skeletal Muscle Sodium Channelopathy: A Case Report With Critical Therapeutical Implications and Review of the Literature.
- Published in:
- 2018
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- Publication type:
- Case Study
Dysregulation of Circular RNAs in Myotonic Dystrophy Type 1.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 8, p. 1938, doi. 10.3390/ijms20081938
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- Publication type:
- Article
Soluble Receptor for Advanced Glycation End Products and Its Forms in COVID-19 Patients with and without Diabetes Mellitus: A Pilot Study on Their Role as Disease Biomarkers.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 11, p. 3785, doi. 10.3390/jcm9113785
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- Publication type:
- Article
Covid-19-Associated Coagulopathy: Biomarkers of Thrombin Generation and Fibrinolysis Leading the Outcome.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 11, p. 3487, doi. 10.3390/jcm9113487
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- Publication type:
- Article
BNT162b2 Booster Dose Elicits a Robust Antibody Response in Subjects with Abdominal Obesity and Previous SARS-CoV-2 Infection.
- Published in:
- Vaccines, 2023, v. 11, n. 12, p. 1796, doi. 10.3390/vaccines11121796
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- Publication type:
- Article
Impact of BNT162b2 Booster Dose on SARS-CoV-2 Anti-Trimeric Spike Antibody Dynamics in a Large Cohort of Italian Health Care Workers.
- Published in:
- Vaccines, 2023, v. 11, n. 2, p. 463, doi. 10.3390/vaccines11020463
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- Publication type:
- Article
RNA transcription and maturation in skeletal muscle cells are similarly impaired in myotonic dystrophy and sarcopenia: the ultrastructural evidence.
- Published in:
- Frontiers in Aging Neuroscience, 2014, v. 6, p. 1, doi. 10.3389/fnagi.2014.00196
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- Publication type:
- Article
Reducing contrast agent residuals in hospital wastewater: the GREENWATER study protocol.
- Published in:
- European Radiology Experimental, 2023, v. 7, n. 1, p. 1, doi. 10.1186/s41747-023-00337-w
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- Publication type:
- Article
First Family of MATR3 -Related Distal Myopathy From Italy: The Role of Muscle Biopsy in the Diagnosis and Characterization of a Still Poorly Understood Disease.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.715386
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- Publication type:
- Article
Genome Wide Identification of Aberrant Alternative Splicing Events in Myotonic Dystrophy Type 2.
- Published in:
- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0093983
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- Publication type:
- Article
Overexpression of CUGBP1 in Skeletal Muscle from Adult Classic Myotonic Dystrophy Type 1 but Not from Myotonic Dystrophy Type 2.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0083777
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- Publication type:
- Article
Deregulated MicroRNAs in Myotonic Dystrophy Type 2.
- Published in:
- PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0039732
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- Publication type:
- Article
Common micro-RNA signature in skeletal muscle damage and regeneration induced by Duchenne muscular dystrophy and acute ischemia.
- Published in:
- FASEB Journal, 2009, v. 23, n. 10, p. 3335, doi. 10.1096/fj.08-128579
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- Publication type:
- Article
Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach.
- Published in:
- Journal of Neurology, 2017, v. 264, n. 8, p. 1705, doi. 10.1007/s00415-017-8504-1
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- Publication type:
- Article
Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2.
- Published in:
- Journal of Neurology, 2012, v. 259, n. 10, p. 2090, doi. 10.1007/s00415-012-6462-1
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- Publication type:
- Article
Immunohistochemical localization of β<sub>1</sub>-adrenergic receptors in the liver of male and female F344 rat.
- Published in:
- Histochemistry & Cell Biology, 2001, v. 116, n. 5, p. 441, doi. 10.1007/s00418-001-0340-8
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- Publication type:
- Article
Rare Disease: Cardiac Risk Assessment With MRI in Patients With Myotonic Dystrophy Type 1.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00192
- By:
- Publication type:
- Article
High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2.
- Published in:
- Cell Death & Disease, 2018, v. 9, n. 7, p. 1, doi. 10.1038/s41419-018-0769-5
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- Publication type:
- Article
RNA processing is altered in skeletal muscle nuclei of patients affected by myotonic dystrophy.
- Published in:
- Histochemistry & Cell Biology, 2011, v. 135, n. 4, p. 419, doi. 10.1007/s00418-011-0797-z
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- Publication type:
- Article
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
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N‐related myopathies.
- Published in:
- Human Mutation, 2019, v. 40, n. 7, p. 962, doi. 10.1002/humu.23745
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- Publication type:
- Article
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C‐terminal peptide of the ClC‐1 channel.
- Published in:
- Human Mutation, 2018, v. 39, n. 9, p. 1273, doi. 10.1002/humu.23581
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- Publication type:
- Article
SCN4A as modifier gene in patients with myotonic dystrophy type 2.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. N.PAG, doi. 10.1038/s41598-018-29302-z
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- Publication type:
- Article
Circulating Irisin Is Reduced in Male Patients with Type 1 and Type 2 Myotonic Dystrophies.
- Published in:
- Frontiers in Endocrinology, 2017, p. 1, doi. 10.3389/fendo.2017.00320
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- Publication type:
- Article
Aberrant insulin receptor expression is associated with insulin resistance and skeletal muscle atrophy in myotonic dystrophies.
- Published in:
- PLoS ONE, 2019, v. 14, n. 3, p. 1, doi. 10.1371/journal.pone.0214254
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- Publication type:
- Article
Age-Related Cell Proliferation and Apoptosis in the Kidney of Male Fischer 344 Rats With Observations on a Spontaneous Tubular Cell Adenoma.
- Published in:
- Toxicologic Pathology, 2000, v. 28, n. 6, p. 802, doi. 10.1177/019262330002800606
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- Publication type:
- Article
Antibody responses to BNT162b2 mRNA vaccine: Infection‐naïve individuals with abdominal obesity warrant attention.
- Published in:
- Obesity (19307381), 2022, v. 30, n. 3, p. 606, doi. 10.1002/oby.23353
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- Publication type:
- Article
Receptor and post-receptor abnormalities contribute to insulin resistance in myotonic dystrophy type 1 and type 2 skeletal muscle.
- Published in:
- PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0184987
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- Publication type:
- Article
Activation of the Pro-Oxidant PKCβII-p66Shc Signaling Pathway Contributes to Pericyte Dysfunction in Skeletal Muscles of Patients With Diabetes With Critical Limb Ischemia.
- Published in:
- 2016
- By:
- Publication type:
- journal article