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The Biallelic Inheritance of Two Novel SCN1A Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam.
- Published in:
- Biomedicines, 2024, v. 12, n. 8, p. 1698, doi. 10.3390/biomedicines12081698
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- Publication type:
- Article
Branched-chain amino acids and L-alanine supplementation ameliorate calcium dyshomeostasis in sarcopenia: New insights for nutritional interventions.
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- Frontiers in Pharmacology, 2024, p. 1, doi. 10.3389/fphar.2024.1393746
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- Publication type:
- Article
Sarcoplasmic Reticulum Ca 2+ Buffer Proteins: A Focus on the Yet-To-Be-Explored Role of Sarcalumenin in Skeletal Muscle Health and Disease.
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- Cells (2073-4409), 2023, v. 12, n. 5, p. 715, doi. 10.3390/cells12050715
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- Publication type:
- Article
Alteration of STIM1/Orai1-Mediated SOCE in Skeletal Muscle: Impact in Genetic Muscle Diseases and Beyond.
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- Cells (2073-4409), 2021, v. 10, n. 10, p. 2722, doi. 10.3390/cells10102722
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- Article
Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery.
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- Frontiers in Pharmacology, 2016, p. 1, doi. 10.3389/fphar.2016.00121
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- Publication type:
- Article
A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene.
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- Journal of Human Genetics, 2013, v. 58, n. 9, p. 581, doi. 10.1038/jhg.2013.58
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- Publication type:
- Article
Pharmacovigilance database search discloses ClC-K channels as a novel target of the AT<sub>1</sub> receptor blockers valsartan and olmesartan.
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- 2017
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- Publication type:
- journal article
Trace amines depress D(2)-autoreceptor-mediated responses on midbrain dopaminergic cells.
- Published in:
- 2010
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- Publication type:
- journal article
ATP Sensitive Potassium Channels in the Skeletal Muscle Function: Involvement of the KCNJ11(Kir6.2) Gene in the Determination of Mechanical Warner Bratzer Shear Force.
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- Frontiers in Physiology, 2016, p. 1, doi. 10.3389/fphys.2016.00167
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- Publication type:
- Article
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene.
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- Frontiers in Physiology, 2015, v. 5, p. 1, doi. 10.3389/fphys.2014.00525
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- Publication type:
- Article
The emerging role of the inwardly rectifying K<sup>+</sup> channels in autism spectrum disorders and epilepsy.
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- Malta Medical Journal, 2011, v. 23, n. 3, p. 1
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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.
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- 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
Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels.
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- Pflügers Archiv: European Journal of Physiology, 2003, v. 446, n. 3, p. 373, doi. 10.1007/s00424-002-0962-2
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- Publication type:
- Article
Role of receptor protein tyrosine phosphatase α (RPTPα) and tyrosine phosphorylation in the serotonergic inhibition of voltage-dependent potassium channels.
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- Pflügers Archiv: European Journal of Physiology, 2000, v. 441, n. 2/3, p. 257, doi. 10.1007/s004240000406
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- Publication type:
- Article
Blockers of Skeletal Muscle Na v 1.4 Channels: From Therapy of Myotonic Syndrome to Molecular Determinants of Pharmacological Action and Back.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 1, p. 857, doi. 10.3390/ijms24010857
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- Publication type:
- Article
Locus Coeruleus Neurons' Firing Pattern Is Regulated by ERG Voltage-Gated K + Channels.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 23, p. 15334, doi. 10.3390/ijms232315334
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- Publication type:
- Article
Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 15, p. 8079, doi. 10.3390/ijms23158079
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- Publication type:
- Article
A Novel KCNA2 Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 18, p. 9913, doi. 10.3390/ijms22189913
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- Publication type:
- Article
Functional Characterization of Two Novel Mutations in SCN5A Associated with Brugada Syndrome Identified in Italian Patients.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 12, p. 6513, doi. 10.3390/ijms22126513
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- Publication type:
- Article
Kcnj16 (Kir5.1) Gene Ablation Causes Subfertility and Increases the Prevalence of Morphologically Abnormal Spermatozoa.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5972, doi. 10.3390/ijms22115972
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- Publication type:
- Article
Refining Genotypes and Phenotypes in KCNA2 -Related Neurological Disorders.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 6, p. 2824, doi. 10.3390/ijms22062824
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- Publication type:
- Article
Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 8, p. 2935, doi. 10.3390/ijms21082935
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- Publication type:
- Article
Short-term anti-remodeling effects of gliflozins in diabetic patients with heart failure and reduced ejection fraction: an explainable artificial intelligence approach.
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- Frontiers in Pharmacology, 2023, p. 1, doi. 10.3389/fphar.2023.1175606
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- Publication type:
- Article
Mutations in MYBPC3 and MYH7 in Association with Brugada Type 1 ECG Pattern: Overlap between Brugada Syndrome and Hypertrophic Cardiomyopathy?
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- Cardiogenetics, 2021, v. 11, n. 3, p. 139, doi. 10.3390/cardiogenetics11030016
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- Publication type:
- Article
Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia.
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- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.01019
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- Publication type:
- Article
Electromechanical coupling of the Kv1.1 voltage-gated K+ channel is fine-tuned by the simplest amino acid residue in the S4-S5 linker.
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- Pflügers Archiv: European Journal of Physiology, 2020, v. 472, n. 7, p. 899, doi. 10.1007/s00424-020-02414-0
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- Publication type:
- Article
Altered functional properties of a missense variant in the TRESK K+ channel (KCNK18) associated with migraine and intellectual disability.
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- Pflügers Archiv: European Journal of Physiology, 2020, v. 472, n. 7, p. 923, doi. 10.1007/s00424-020-02382-5
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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
Changes in Expression and Cellular Localization of Rat Skeletal Muscle ClC-1 Chloride Channel in Relation to Age, Myofiber Phenotype and PKC Modulation.
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- Frontiers in Pharmacology, 2020, v. 11, p. 1, doi. 10.3389/fphar.2020.00714
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- Publication type:
- Article
Functional Study of Novel Bartter's Syndrome Mutations in ClC-Kb and Rescue by the Accessory Subunit Barttin Toward Personalized Medicine.
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- Frontiers in Pharmacology, 2020, v. 11, p. 1, doi. 10.3389/fphar.2020.00327
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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
Ion channels as biomarkers of altered myogenesis in myofiber precursors of Duchenne muscular dystrophy.
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- Annals of the New York Academy of Sciences, 2024, v. 1534, n. 1, p. 130, doi. 10.1111/nyas.15124
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- Publication type:
- Article
Differential pH sensitivity of Kir4.1 and Kir4.2 potassium channels and their modulation by heteropolymerisation with Kir5.1.
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- Journal of Physiology, 2001, v. 532, n. 2, p. 359, doi. 10.1111/j.1469-7793.2001.0359f.x
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- Publication type:
- Article
Small Molecules Targeting Kidney ClC-K Chloride Channels: Applications in Rare Tubulopathies and Common Cardiovascular Diseases.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 4, p. 710, doi. 10.3390/biom13040710
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- Publication type:
- Article
Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita.
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- NeuroMolecular Medicine, 2015, v. 17, n. 3, p. 285, doi. 10.1007/s12017-015-8356-8
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- Publication type:
- Article
Pleiotropic Effects of Direct Oral Anticoagulants in Chronic Heart Failure and Atrial Fibrillation: Machine Learning Analysis.
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- Molecules, 2024, v. 29, n. 11, p. 2651, doi. 10.3390/molecules29112651
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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
Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I.
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- Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00587
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- Publication type:
- Article
Brugada Syndrome: More than a Monogenic Channelopathy.
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- Biomedicines, 2023, v. 11, n. 8, p. 2297, doi. 10.3390/biomedicines11082297
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- Publication type:
- Article
Paving the way for Bartter syndrome type 3 drug discovery: a hope from basic research.
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- Journal of Physiology, 2017, v. 595, n. 16, p. 5403, doi. 10.1113/JP274645
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- Publication type:
- Article
Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvβ1.1 and Kv1.4-1.1/Kvβ1.2.
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- European Journal of Neuroscience, 2006, v. 24, n. 11, p. 3073, doi. 10.1111/j.1460-9568.2006.05186.x
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- Publication type:
- Article
Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia—authors' response.
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- Brain: A Journal of Neurology, 2005, v. 128, n. 6, p. E33, doi. 10.1093/brain/awh439
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- Publication type:
- Article
Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.
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- Brain: A Journal of Neurology, 2004, v. 127, n. 12, p. 2682, doi. 10.1093/brain/awh301
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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
Biophysical Aspects of Neurodegenerative and Neurodevelopmental Disorders Involving Endo-/Lysosomal CLC Cl − /H + Antiporters.
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- Life (2075-1729), 2023, v. 13, n. 6, p. 1317, doi. 10.3390/life13061317
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- Publication type:
- Article
How brachial access compares to femoral access for invasive cardiac angiography when radial access is not feasible: A meta-analysis.
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- Journal of Vascular Access, 2024, v. 25, n. 4, p. 1063, doi. 10.1177/11297298221145752
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- Publication type:
- Article