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- [1] A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsyBRAIN, 1999, 122 : 817 - 825Zuberi, SM论文数: 0 引用数: 0 h-index: 0机构: Univ London, Inst Neurol, Muscle & Neurogenet Sect, Dept Clin Neurol, London WC1N 3BG, EnglandEunson, LH论文数: 0 引用数: 0 h-index: 0机构: Univ London, Inst Neurol, Muscle & Neurogenet Sect, Dept Clin Neurol, London WC1N 3BG, EnglandSpauschus, A论文数: 0 引用数: 0 h-index: 0机构: Univ London, Inst Neurol, Muscle & Neurogenet Sect, Dept Clin Neurol, London WC1N 3BG, EnglandDe Silva, R论文数: 0 引用数: 0 h-index: 0机构: Univ London, Inst Neurol, Muscle & Neurogenet Sect, Dept Clin Neurol, London WC1N 3BG, EnglandTolmie, J论文数: 0 引用数: 0 h-index: 0机构: Univ London, Inst Neurol, Muscle & Neurogenet Sect, Dept Clin Neurol, London WC1N 3BG, EnglandWood, NW论文数: 0 引用数: 0 h-index: 0机构: Univ London, Inst Neurol, Muscle & Neurogenet Sect, Dept Clin Neurol, London WC1N 3BG, EnglandMcWilliam, RC论文数: 0 引用数: 0 h-index: 0机构: Univ London, Inst Neurol, Muscle & Neurogenet Sect, Dept Clin Neurol, London WC1N 3BG, EnglandStephenson, JPB论文数: 0 引用数: 0 h-index: 0机构: Univ London, Inst Neurol, Muscle & Neurogenet Sect, Dept Clin Neurol, London WC1N 3BG, EnglandKullmann, DM论文数: 0 引用数: 0 h-index: 0机构: Univ London, Inst Neurol, Muscle & Neurogenet Sect, Dept Clin Neurol, London WC1N 3BG, EnglandHanna, MG论文数: 0 引用数: 0 h-index: 0机构: Univ London, Inst Neurol, Muscle & Neurogenet Sect, Dept Clin Neurol, London WC1N 3BG, England
- [2] An activator of voltage- gated K+ channels Kv1.1 as a therapeutic candidate for episodic ataxia type 1PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2023, 120 (31)论文数: 引用数: h-index:机构:Talani, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: CNR, Inst Neurosci, I-09042 Monserrato, Italy Univ Perugia, Sect Physiol, Dept Med, I-06123 Perugia, ItalyMegaro, Alfredo论文数: 0 引用数: 0 h-index: 0机构: Univ Perugia, Sect Physiol, Dept Med, I-06123 Perugia, Italy Univ Perugia, Sect Physiol, Dept Med, I-06123 Perugia, ItalySetzu, Maria Dolores论文数: 0 引用数: 0 h-index: 0机构: Univ Cagliari, Dept Biomed Sci, I-09042 Monserrato, Italy Univ Perugia, Sect Physiol, Dept Med, I-06123 Perugia, ItalyBiggio, Francesca论文数: 0 引用数: 0 h-index: 0机构: Univ Cagliari, Dept Life & Environm Sci, I-09042 Monserrato, Italy Univ Perugia, Sect Physiol, Dept Med, I-06123 Perugia, ItalyBriffa, Michelle论文数: 0 引用数: 0 h-index: 0机构: Univ Malta, Fac Med & Surg, Dept Physiol & Biochem, Msida MSD 2080, Malta Univ Perugia, Sect Physiol, Dept Med, I-06123 Perugia, ItalyGuglielmi, Luca论文数: 0 引用数: 0 h-index: 0机构: MRC, Lab Mol Biol, Cambridge CB2 0QH, England Univ Perugia, Sect Physiol, Dept Med, I-06123 Perugia, ItalySavalli, Nicoletta论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Anesthesiol & Perioperat Med, Los Angeles, CA 90095 USA Univ Perugia, Sect Physiol, Dept Med, I-06123 Perugia, ItalyBinda, Francesca论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Dept Fundamental Neurosci, CH-1011 Lausanne, Switzerland Univ Strasbourg, Inst Neurosci Cellulaires & Integrat, Ctr Natl Rech Sci, F-67000 Strasbourg, France Univ Perugia, Sect Physiol, Dept Med, I-06123 Perugia, ItalyDelicata, Francis论文数: 0 引用数: 0 h-index: 0机构: Univ Manitoba, Rady Fac Hlth Sci, Coll Pharm, Winnipeg, MB R3E 0T5, Canada Univ Perugia, Sect Physiol, Dept Med, I-06123 Perugia, ItalyBru-Mercier, Gilles论文数: 0 引用数: 0 h-index: 0机构: United Arab Emirates Univ, Dept Physiol, Coll Med & Hlth Sci, Al Ain 17666, U Arab Emirates Univ Perugia, Sect Physiol, Dept Med, I-06123 Perugia, Italy论文数: 引用数: h-index:机构:Maglione, Vittorio论文数: 0 引用数: 0 h-index: 0机构: Ist Ricovero & Cura Carattere Sci Neuromed, I-86077 Pozzilli, Italy Univ Perugia, Sect Physiol, Dept Med, I-06123 Perugia, ItalyCauchi, Ruben J.论文数: 0 引用数: 0 h-index: 0机构: Univ Malta, Fac Med & Surg, Dept Physiol & Biochem, Msida MSD 2080, Malta Univ Perugia, Sect Physiol, Dept Med, I-06123 Perugia, ItalyDi Pardo, Alba论文数: 0 引用数: 0 h-index: 0机构: Ist Ricovero & Cura Carattere Sci Neuromed, I-86077 Pozzilli, Italy Univ Perugia, Sect Physiol, Dept Med, I-06123 Perugia, ItalyCollu, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Cagliari, Dept Biomed Sci, I-09042 Monserrato, Italy Univ Perugia, Sect Physiol, Dept Med, I-06123 Perugia, ItalyImbrici, Paola论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70125 Bari, Italy Univ Perugia, Sect Physiol, Dept Med, I-06123 Perugia, ItalyCatacuzzeno, Luigi论文数: 0 引用数: 0 h-index: 0机构: Univ Perugia, Dept Chem Biol & Biotechnol, I-06123 Perugia, Italy Univ Perugia, Sect Physiol, Dept Med, I-06123 Perugia, ItalyD'Adamo, Maria Cristina论文数: 0 引用数: 0 h-index: 0机构: Libera Univ Mediterranea Giuseppe DEGENNARO, Dept Med & Surg, I-70010 Casamassima, Italy Univ Perugia, Sect Physiol, Dept Med, I-06123 Perugia, ItalyOlcese, Riccardo论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Anesthesiol & Perioperat Med, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Physiol, Los Angeles, CA 90095 USA Univ Perugia, Sect Physiol, Dept Med, I-06123 Perugia, Italy论文数: 引用数: h-index:机构:
- [3] Episodic ataxia and myokymia syndrome: A new mutation of potassium channel gene Kv1.1ANNALS OF NEUROLOGY, 1996, 40 (04) : 684 - 687Comu, S论文数: 0 引用数: 0 h-index: 0机构: UNIV PITTSBURGH,DEPT PEDIAT,PITTSBURGH,PA 15260Giuliani, M论文数: 0 引用数: 0 h-index: 0机构: UNIV PITTSBURGH,DEPT PEDIAT,PITTSBURGH,PA 15260Narayanan, V论文数: 0 引用数: 0 h-index: 0机构: UNIV PITTSBURGH,DEPT PEDIAT,PITTSBURGH,PA 15260
- [4] Mutations underlying Episodic Ataxia type-1 antagonize Kv1.1 RNA editingScientific Reports, 7Elizabeth A. Ferrick-Kiddie论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt University School of Medicine,Department of Molecular Physiology & BiophysicsJoshua J. C. Rosenthal论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt University School of Medicine,Department of Molecular Physiology & BiophysicsGregory D. Ayers论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt University School of Medicine,Department of Molecular Physiology & BiophysicsRonald B. Emeson论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt University School of Medicine,Department of Molecular Physiology & Biophysics
- [5] Mutations underlying Episodic Ataxia type-1 antagonize Kv1.1 RNA editingSCIENTIFIC REPORTS, 2017, 7Ferrick-Kiddie, Elizabeth A.论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt Univ, Sch Med, Dept Mol Physiol & Biophys, Nashville, TN 37232 USA Vanderbilt Univ, Sch Med, Dept Mol Physiol & Biophys, Nashville, TN 37232 USARosenthal, Joshua J. C.论文数: 0 引用数: 0 h-index: 0机构: Marine Biol Lab, Eugene Bell Ctr Regenerat Biol & Tissue Engn, Woods Hole, MA 02543 USA Univ Puerto Rico, Inst Neurobiol, Med Sci Campus, San Juan, PR 00901 USA Vanderbilt Univ, Sch Med, Dept Mol Physiol & Biophys, Nashville, TN 37232 USAAyers, Gregory D.论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt Univ, Med Ctr, Ctr Quantitat Sci, Nashville, TN 37232 USA Vanderbilt Univ, Sch Med, Dept Mol Physiol & Biophys, Nashville, TN 37232 USAEmeson, Ronald B.论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt Univ, Sch Med, Dept Mol Physiol & Biophys, Nashville, TN 37232 USA Vanderbilt Univ, Sch Med, Dept Pharmacol, Nashville, TN 37232 USA Vanderbilt Univ, Sch Med, Dept Mol Physiol & Biophys, Nashville, TN 37232 USA
- [6] Functional characterisation of mutant Kv1.1 subunits from two families with episodic ataxia type 1JOURNAL OF PHYSIOLOGY-LONDON, 2000, 523 : 156P - 157PSpauschus, A论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Clin Neurol, London WC1N 3BG, England UCL, Inst Neurol, Dept Clin Neurol, London WC1N 3BG, EnglandRea, R论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Clin Neurol, London WC1N 3BG, England UCL, Inst Neurol, Dept Clin Neurol, London WC1N 3BG, EnglandEunson, L论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Clin Neurol, London WC1N 3BG, England UCL, Inst Neurol, Dept Clin Neurol, London WC1N 3BG, EnglandWood, NW论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Clin Neurol, London WC1N 3BG, England UCL, Inst Neurol, Dept Clin Neurol, London WC1N 3BG, EnglandHanna, MG论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Clin Neurol, London WC1N 3BG, England UCL, Inst Neurol, Dept Clin Neurol, London WC1N 3BG, EnglandKullmann, DM论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Clin Neurol, London WC1N 3BG, England UCL, Inst Neurol, Dept Clin Neurol, London WC1N 3BG, England
- [7] Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 ChannelBIOMEDICINES, 2021, 9 (01) : 1 - 14Imbrici, Paola论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70121 Bari, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70121 Bari, ItalyAccogli, Andrea论文数: 0 引用数: 0 h-index: 0机构: IRCCS Inst G Gaslini, Med Genet Unit, I-80131 Genoa, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70121 Bari, ItalyBlunck, Rikard论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Dept Phys, Montreal, PQ H3C 3J7, Canada Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70121 Bari, Italy论文数: 引用数: h-index:机构:Iacomino, Michele论文数: 0 引用数: 0 h-index: 0机构: IRCCS Inst G Gaslini, Med Genet Unit, I-80131 Genoa, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70121 Bari, ItalyD'Adamo, Maria Cristina论文数: 0 引用数: 0 h-index: 0机构: Univ Malta, Fac Med & Surg, Dept Physiol & Biochem, MDS-2080 Msida, Malta Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70121 Bari, ItalyAllegri, Anna论文数: 0 引用数: 0 h-index: 0机构: IRCCS Inst G Gaslini, Paediat Endocrinol Unit, I-80131 Genoa, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70121 Bari, ItalyPedemonte, Marina论文数: 0 引用数: 0 h-index: 0机构: IRCCS Inst G Gaslini, Paediat Neurol & Neuromuscular Disorders Unit, I-80131 Genoa, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70121 Bari, ItalyBrolatti, Noemi论文数: 0 引用数: 0 h-index: 0机构: IRCCS Inst G Gaslini, Paediat Neurol & Neuromuscular Disorders Unit, I-80131 Genoa, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70121 Bari, ItalyVari, Stella论文数: 0 引用数: 0 h-index: 0机构: IRCCS Inst G Gaslini, Paediat Neurol & Neuromuscular Disorders Unit, I-80131 Genoa, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70121 Bari, ItalyCataldi, Matteo论文数: 0 引用数: 0 h-index: 0机构: IRCCS Inst G Gaslini, Neuropsychiat Unit, I-80131 Genoa, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70121 Bari, ItalyCapra, Valeria论文数: 0 引用数: 0 h-index: 0机构: IRCCS Inst G Gaslini, Neurosurg Unit, I-80131 Genoa, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70121 Bari, ItalyGustincich, Stefano论文数: 0 引用数: 0 h-index: 0机构: Ist Italiano Tecnol, Dept Neurosci & Brain Technol, I-80131 Genoa, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70121 Bari, ItalyZara, Federico论文数: 0 引用数: 0 h-index: 0机构: IRCCS Inst G Gaslini, Med Genet Unit, I-80131 Genoa, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70121 Bari, ItalyDesaphy, Jean-Francois论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Sch Med, Dept Biomed Sci & Human Oncol, I-70121 Bari, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70121 Bari, ItalyFiorillo, Chiara论文数: 0 引用数: 0 h-index: 0机构: IRCCS Inst G Gaslini, Paediat Neurol & Neuromuscular Disorders Unit, I-80131 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16126 Genoa, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70121 Bari, Italy
- [8] Novel phenotype associated with a mutation in the KCNA1(Kv1.1) geneFRONTIERS IN PHYSIOLOGY, 2015, 5D'Adamo, MariaC.论文数: 0 引用数: 0 h-index: 0机构: Univ Perugia, Sch Med, Dept Expt Med, Sect Physiol & Biochem, I-06132 Perugia, Italy Ist Euromediterraneo Sci & Tecnol, Sect Neurophysiol & Biophys, Palermo, Italy Univ Perugia, Sch Med, Dept Expt Med, Sect Physiol & Biochem, I-06132 Perugia, ItalyGallenmueller, Constanze论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Dept Neurol, Friedrich Baur Inst, D-80539 Munich, Germany German Network Mitochondrial Disorders MitoNET, Ludwigshafen, Germany DZNE German Ctr Neurodegenerat Dis, Munich, Germany Univ Perugia, Sch Med, Dept Expt Med, Sect Physiol & Biochem, I-06132 Perugia, ItalyServettini, Ilenio论文数: 0 引用数: 0 h-index: 0机构: Univ Perugia, Sch Med, Dept Expt Med, Sect Physiol & Biochem, I-06132 Perugia, Italy Univ Perugia, Sch Med, Dept Expt Med, Sect Physiol & Biochem, I-06132 Perugia, ItalyHartl, Elisabeth论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Dept Neurol, Friedrich Baur Inst, D-80539 Munich, Germany Univ Perugia, Sch Med, Dept Expt Med, Sect Physiol & Biochem, I-06132 Perugia, ItalyTucker, Stephen J.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Dept Phys, Clarendon Lab, Oxford OX1 3PU, England Univ Perugia, Sch Med, Dept Expt Med, Sect Physiol & Biochem, I-06132 Perugia, ItalyArning, Larissa论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Dept Human Genet, Bochum, Germany Univ Perugia, Sch Med, Dept Expt Med, Sect Physiol & Biochem, I-06132 Perugia, ItalyBiskup, Saskia论文数: 0 引用数: 0 h-index: 0机构: Ctr Genom & Transcript CeGaT GmbH Tubingen, Tubingen, Germany Univ Perugia, Sch Med, Dept Expt Med, Sect Physiol & Biochem, I-06132 Perugia, ItalyGrottesi, Alessandro论文数: 0 引用数: 0 h-index: 0机构: CINECA Consorzio Interuniv Calcolo Automat, Dept Supercomp Applicat & Innovat, Rome, Italy Univ Perugia, Sch Med, Dept Expt Med, Sect Physiol & Biochem, I-06132 Perugia, Italy论文数: 引用数: h-index:机构:Imbrici, Paola论文数: 0 引用数: 0 h-index: 0机构: Univ Bari, Dept Pharm, Bari, Italy Univ Perugia, Sch Med, Dept Expt Med, Sect Physiol & Biochem, I-06132 Perugia, ItalyBernasconi, Pia论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Neurol Inst Carlo Besta, Neurol Neuromuscular Dis & Neuroimmunol Unit 4, Milan, Italy Univ Perugia, Sch Med, Dept Expt Med, Sect Physiol & Biochem, I-06132 Perugia, ItalyDi Giovanni, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: Ist Euromediterraneo Sci & Tecnol, Sect Neurophysiol & Biophys, Palermo, Italy Univ Malta, Fac Med & Surg, Dept Physiol & Biochem, Msida, Malta Univ Perugia, Sch Med, Dept Expt Med, Sect Physiol & Biochem, I-06132 Perugia, ItalyFranciolini, Fabio论文数: 0 引用数: 0 h-index: 0机构: Univ Perugia, Dept Chem Biol & Biotechnol, I-06132 Perugia, Italy Univ Perugia, Sch Med, Dept Expt Med, Sect Physiol & Biochem, I-06132 Perugia, ItalyCatacuzzeno, Luigi论文数: 0 引用数: 0 h-index: 0机构: Univ Perugia, Dept Chem Biol & Biotechnol, I-06132 Perugia, Italy Univ Perugia, Sch Med, Dept Expt Med, Sect Physiol & Biochem, I-06132 Perugia, Italy论文数: 引用数: h-index:机构:Klopstock, Thomas论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Dept Neurol, Friedrich Baur Inst, D-80539 Munich, Germany German Network Mitochondrial Disorders MitoNET, Ludwigshafen, Germany DZNE German Ctr Neurodegenerat Dis, Munich, Germany German Ctr Vertigo & Balance Disorders, Munich, Germany Univ Perugia, Sch Med, Dept Expt Med, Sect Physiol & Biochem, I-06132 Perugia, Italy
- [9] Kv1.1 channels - from episodic ataxia to gene therapy for epilepsyACTA PHYSIOLOGICA, 2016, 216Kullmann, D.论文数: 0 引用数: 0 h-index: 0机构: UCL, London WC1E 6BT, England UCL, London WC1E 6BT, England
- [10] A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy (vol 122, pg 817, 1999)BRAIN, 2010, 133 : 1569 - 1569Zuberi, S. M.论文数: 0 引用数: 0 h-index: 0Eunson, L. H.论文数: 0 引用数: 0 h-index: 0Spauschus, A.论文数: 0 引用数: 0 h-index: 0De Silva, R.论文数: 0 引用数: 0 h-index: 0Tolmie, J.论文数: 0 引用数: 0 h-index: 0Wood, N. W.论文数: 0 引用数: 0 h-index: 0McWilliam, R. C.论文数: 0 引用数: 0 h-index: 0Stephenson, J. B.论文数: 0 引用数: 0 h-index: 0Kullmann, D. M.论文数: 0 引用数: 0 h-index: 0Hanna, M. G.论文数: 0 引用数: 0 h-index: 0