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A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 725, doi. 10.3233/JND-230134
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- Publication type:
- Article
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.
- Published in:
- Journal of Neuromuscular Diseases, 2021, v. 8, n. 3, p. 357, doi. 10.3233/JND-200582
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- Publication type:
- Article
Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy.
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- Cells (2073-4409), 2021, v. 10, n. 6, p. 1521, doi. 10.3390/cells10061521
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- Publication type:
- Article
Editorial: Novel therapeutic approach in cancer: the role of ion channels and transporters.
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- Frontiers in Pharmacology, 2024, p. 01, doi. 10.3389/fphar.2024.1422127
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- Publication type:
- Article
Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies.
- Published in:
- FASEB Journal, 2016, v. 30, n. 10, p. 3285, doi. 10.1096/fj.201500079R
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- Publication type:
- Article
Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.
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- Neurogenetics, 2017, v. 18, n. 4, p. 219, doi. 10.1007/s10048-017-0525-5
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- Publication type:
- Article
Corrigendum: Bioisosteric Modification of To042: Synthesis and Evaluation of Promising Use‐Dependent Inhibitors of Voltage‐Gated Sodium Channels.
- Published in:
- ChemMedChem, 2022, v. 17, n. 7, p. 1, doi. 10.1002/cmdc.202200131
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- Publication type:
- Article
Bioisosteric Modification of To042: Synthesis and Evaluation of Promising Use‐Dependent Inhibitors of Voltage‐Gated Sodium Channels.
- Published in:
- ChemMedChem, 2021, v. 16, n. 23, p. 3588, doi. 10.1002/cmdc.202100496
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- Publication type:
- Article
Synthesis and Evaluation of Voltage‐Gated Sodium Channel Blocking Pyrroline Derivatives Endowed with Both Antiarrhythmic and Antioxidant Activities.
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- ChemMedChem, 2021, v. 16, n. 3, p. 578, doi. 10.1002/cmdc.202000692
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- Publication type:
- Article
ECM Composition Differentially Regulates Intracellular and Extracellular pH in Normal and Cancer Pancreatic Duct Epithelial Cells.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 13, p. 10632, doi. 10.3390/ijms241310632
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- Publication type:
- Article
Ion Channels in Multiple Myeloma: Pathogenic Role and Therapeutic Perspectives.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 13, p. 7302, doi. 10.3390/ijms23137302
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- Publication type:
- Article
Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.01019
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- Publication type:
- Article
Skeletal muscle ClC-1 chloride channels in health and diseases.
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- Pflügers Archiv: European Journal of Physiology, 2020, v. 472, n. 7, p. 961, doi. 10.1007/s00424-020-02376-3
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- Publication type:
- Article
ClC-1 chloride channels: state-of-the-art research and future challenges.
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- Frontiers in Cellular Neuroscience, 2015, v. 9, p. 1, doi. 10.3389/fncel.2015.00156
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- Publication type:
- Article
Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita.
- Published in:
- NeuroMolecular Medicine, 2015, v. 17, n. 3, p. 285, doi. 10.1007/s12017-015-8356-8
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- Publication type:
- Article
Chaperone activity of niflumic acid on ClC-1 chloride channel mutants causing myotonia congenita.
- Published in:
- Frontiers in Pharmacology, 2022, v. 13, p. 1, doi. 10.3389/fphar.2022.958196
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- Publication type:
- Article
Uptake-Dependent and -Independent Effects of Fibroblasts-Derived Extracellular Vesicles on Bone Marrow Endothelial Cells from Patients with Multiple Myeloma: Therapeutic and Clinical Implications.
- Published in:
- Biomedicines, 2023, v. 11, n. 5, p. 1400, doi. 10.3390/biomedicines11051400
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- Publication type:
- Article
Anti-Angiogenic Activity of Drugs in Multiple Myeloma.
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- Cancers, 2023, v. 15, n. 7, p. 1990, doi. 10.3390/cancers15071990
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- Publication type:
- Article
Immersive and Non-Immersive Virtual Reality for Pain and Anxiety Management in Pediatric Patients with Hematological or Solid Cancer: A Systematic Review.
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- Cancers, 2023, v. 15, n. 3, p. 985, doi. 10.3390/cancers15030985
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- Publication type:
- Article
Emerging Roles for Ion Channels in Ovarian Cancer: Pathomechanisms and Pharmacological Treatment.
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- Cancers, 2021, v. 13, n. 4, p. 668, doi. 10.3390/cancers13040668
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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
Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel.
- Published in:
- Biomedicines, 2021, v. 9, n. 1, p. 75, doi. 10.3390/biomedicines9010075
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- Publication type:
- Article
Ion Channel Involvement in Tumor Drug Resistance.
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- Journal of Personalized Medicine, 2022, v. 12, n. 2, p. N.PAG, doi. 10.3390/jpm12020210
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- Publication type:
- Article
Buprenorphine may be effective for treatment of paramyotonia congenita.
- Published in:
- 2021
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- Publication type:
- journal article