| Nome |
# |
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Pharmacovigilance database search discloses ClC-K channels as a novel target of the AT1 receptor blockers valsartan and olmesartan, file dd9e0c64-f069-1e9c-e053-3a05fe0a45ef
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116
|
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Mapping ligand binding pockets in ClC-1 channels through an integrated in silico and experimental approach using anthracene-9-carboxylic acid and niflumic acid, file dd9e0c68-6f77-1e9c-e053-3a05fe0a45ef
|
106
|
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ClC-1 chloride channels: state-of-the-art research and future challenges, file dd9e0c63-83d3-1e9c-e053-3a05fe0a45ef
|
83
|
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Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies, file dd9e0c63-adbd-1e9c-e053-3a05fe0a45ef
|
79
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Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita, file dd9e0c62-a230-1e9c-e053-3a05fe0a45ef
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74
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Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation, file dd9e0c63-8303-1e9c-e053-3a05fe0a45ef
|
74
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|
Changes in Expression and Cellular Localization of Rat Skeletal Muscle ClC-1 Chloride Channel in Relation to Age, Myofiber Phenotype and PKC Modulation, file dd9e0c68-650b-1e9c-e053-3a05fe0a45ef
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65
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Kv1.1 channelopathies: Pathophysiological mechanisms and therapeutic approaches, file dd9e0c67-a7f7-1e9c-e053-3a05fe0a45ef
|
52
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Pharmacogenetics of myotonic hNav1.4 sodium channel variants situated near the fast inactivation gate, file dd9e0c6c-25c7-1e9c-e053-3a05fe0a45ef
|
43
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ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation, file dd9e0c62-a234-1e9c-e053-3a05fe0a45ef
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42
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Therapeutic approaches to genetic ion channelopathies and perspectives in drug discovery, file dd9e0c63-7852-1e9c-e053-3a05fe0a45ef
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39
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Identification of a new de novo mutation underlying regressive episodic ataxia type I, file dd9e0c65-85c1-1e9c-e053-3a05fe0a45ef
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38
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Functional Study of Novel Bartter's Syndrome Mutations in ClC-Kb and Rescue by the Accessory Subunit Barttin Toward Personalized Medicine, file dd9e0c66-b614-1e9c-e053-3a05fe0a45ef
|
34
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Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene, file dd9e0c68-0379-1e9c-e053-3a05fe0a45ef
|
32
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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, file dd9e0c63-666d-1e9c-e053-3a05fe0a45ef
|
29
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Mapping ligand binding pockets in ClC-1 channels through an integrated in silico and experimental approach using anthracene-9-carboxylic acid and niflumic acid, file da4e9944-ebc8-4346-a186-f37b5d28f6f4
|
16
|
|
Kidney CLC-K chloride channels inhibitors: structure-based studies and efficacy in hypertension and associated CLC-K polymorphisms., file dd9e0c63-890f-1e9c-e053-3a05fe0a45ef
|
10
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Human ether-à-go-go-related potassium channel: exploring SAR to improve drug design, file dd9e0c66-64ee-1e9c-e053-3a05fe0a45ef
|
7
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Targeting kidney CLC-K channels: pharmacological profile in a human cell line versus Xenopus oocytes, file dd9e0c63-4693-1e9c-e053-3a05fe0a45ef
|
6
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Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia, file dd9e0c64-d476-1e9c-e053-3a05fe0a45ef
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6
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Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia, file dd9e0c68-aec8-1e9c-e053-3a05fe0a45ef
|
6
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Major channels involved in neuropsychiatric disorders and therapeutic perspectives, file dd9e0c63-83df-1e9c-e053-3a05fe0a45ef
|
5
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A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions, file dd9e0c64-d574-1e9c-e053-3a05fe0a45ef
|
5
|
|
Blockers of Skeletal Muscle Nav1.4 Channels: From Therapy of
Myotonic Syndrome to Molecular Determinants of
Pharmacological Action and Back., file 2c911a87-e9ef-4be2-98ec-28f1226e304d
|
4
|
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Sarcoplasmic Reticulum Ca2+ Buffer Proteins: A Focus on the Yet-To-Be-Explored Role of Sarcalumenin in Skeletal Muscle Health and Disease, file 5acb27a2-f6d4-48cf-b906-17dc0b94a59b
|
4
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Skeletal muscle ClC-1 chloride channels in health and diseases, file dd9e0c67-a7fc-1e9c-e053-3a05fe0a45ef
|
4
|
|
Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature, file dd9e0c62-451b-1e9c-e053-3a05fe0a45ef
|
3
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Characterization of Student Drinking Behaviors at the Beginning of the First Academic Year at One University in Southern Italy, file dd9e0c66-4bfc-1e9c-e053-3a05fe0a45ef
|
3
|
|
Pharmacogenetics of myotonic hNav1.4 sodium channel variants situated near the fast inactivation gate, file dd9e0c6c-43a0-1e9c-e053-3a05fe0a45ef
|
3
|
|
Sodium-glucose cotransporter-2 inhibitors: A potential novel treatment for Lafora disease?, file 1981ecd4-5058-4943-a0d3-e4e97e7a5ece
|
2
|
|
An activator of voltage-gated K+ channels Kv1.1 as a therapeutic candidate for episodic ataxia type 1, file 285a3ad3-6c59-4be6-9118-4f12e89dffec
|
2
|
|
SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern, file 368f1caf-3dd8-4153-94ce-a7f7b5fc21dc
|
2
|
|
Brugada Syndrome: More than a Monogenic Channelopathy, file 5fef801b-9202-46a4-889e-679d5c8527eb
|
2
|
|
Small Molecules Targeting Kidney ClC-K Chloride Channels: Applications in Rare Tubulopathies and Common Cardiovascular Diseases, file 6eaa0c2e-b1f6-4a8d-be8f-cdfa31fb6101
|
2
|
|
Mutations in MYBPC3 and MYH7 in Association with Brugada Type 1 ECG Pattern: Overlap between Brugada Syndrome and Hypertrophic Cardiomyopathy?, file 774126d5-3eb1-4f24-bda3-9d3be0ff5c6f
|
2
|
|
I-J loop involvement in the pharmacological profile of CLC-K channels expressed
in Xenopus oocytes, file dd9e0c63-8b60-1e9c-e053-3a05fe0a45ef
|
2
|
|
Contributions of the central hydrophobic residue in the PXP motif of Voltage-Dependent K+ Channels to S6 flexibility and Gating Properties, file dd9e0c65-b1f0-1e9c-e053-3a05fe0a45ef
|
2
|
|
Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel, file dd9e0c6a-c2ca-1e9c-e053-3a05fe0a45ef
|
2
|
|
Functional characterization of a C-terminal Nav1.4 mutation found in a patient presenting with myotonia and congenital myasthenia syndrome, file dd9e0c6a-f0ef-1e9c-e053-3a05fe0a45ef
|
2
|
|
Gain-of-Function STIM1 L96V Mutation Causes Myogenesis Alteration in Muscle Cells From a Patient Affected by Tubular Aggregate Myopathy, file dd9e0c6a-fceb-1e9c-e053-3a05fe0a45ef
|
2
|
|
Kcnj16 (Kir5.1) gene ablation causes subfertility and increases the prevalence of morphologically abnormal spermatozoa, file dd9e0c6b-3e17-1e9c-e053-3a05fe0a45ef
|
2
|
|
A novel kcna2 variant in a patient with non-progressive congenital ataxia and epilepsy: Functional characterization and sensitivity to 4-aminopyridine, file dd9e0c6b-51d8-1e9c-e053-3a05fe0a45ef
|
2
|
|
Andersen-Tawil syndrome: New potassium channel mutations and possible phenotypic variation, file dd9e0c62-4f0c-1e9c-e053-3a05fe0a45ef
|
1
|
|
Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia, file dd9e0c62-7926-1e9c-e053-3a05fe0a45ef
|
1
|
|
Episodic Ataxia Type 1 Mutations Affect Fast Inactivation of K+ Channels by a Reduction in Either Subunit Surface Expression or Affinity for Inactivation Domain, file dd9e0c62-80fe-1e9c-e053-3a05fe0a45ef
|
1
|
|
The emerging role of the inwardly rectifying K + channels in autism spectrum disorders and epilepsy, file dd9e0c62-816e-1e9c-e053-3a05fe0a45ef
|
1
|
|
Autism with seizure and intellectual disability: possible causative role of gain-of-function of the Inwardly-Rectifying K+ Channel Kir4.1, file dd9e0c62-84bb-1e9c-e053-3a05fe0a45ef
|
1
|
|
Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A, file dd9e0c62-8964-1e9c-e053-3a05fe0a45ef
|
1
|
|
Functional characterization of ClC-1 mutations from patients affected by
recessive myotonia congenita presenting with different clinical phenotypes., file dd9e0c62-a9be-1e9c-e053-3a05fe0a45ef
|
1
|
|
Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause
episodic ataxia type 2, file dd9e0c63-96ef-1e9c-e053-3a05fe0a45ef
|
1
|
|
Trace amines depress D2-autoreceptor-mediated responses on midbrain dopaminergic cells., file dd9e0c63-9b44-1e9c-e053-3a05fe0a45ef
|
1
|
|
Paving the way for Bartter syndrome type 3 drug discovery: a hope from basic research, file dd9e0c64-e109-1e9c-e053-3a05fe0a45ef
|
1
|
|
Ion channels in drug discovery and safety pharmacology, file dd9e0c65-8457-1e9c-e053-3a05fe0a45ef
|
1
|
|
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within CBS2 domain and C-terminal peptide of ClC-1 channel, file dd9e0c65-8b16-1e9c-e053-3a05fe0a45ef
|
1
|
|
Safinamide's potential in treating nondystrophic myotonias: Inhibition of skeletal muscle voltage-gated sodium channels and skeletal muscle hyperexcitability in vitro and in vivo, file dd9e0c66-cbb8-1e9c-e053-3a05fe0a45ef
|
1
|
|
Ion channels gene expression analysis in myotonia congenita patients carrying ClC-1 chloride channel mutations, file dd9e0c69-f3fb-1e9c-e053-3a05fe0a45ef
|
1
|
|
Natural ClC-1 mutations causing myotonia congenita reduce sensitivity to 9-AC, file dd9e0c6a-03ff-1e9c-e053-3a05fe0a45ef
|
1
|
|
Increased sarcolemma chloride conductance as one of the mechanisms of action of carbonic anhydrase inhibitors in muscle excitability disorders, file dd9e0c6b-8198-1e9c-e053-3a05fe0a45ef
|
1
|
| Totale |
1.030 |