المؤلفون: Zhang Y; Division of Nephrology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Center for Kidney Disease, Nashville, TN, USA., Bock F; Division of Nephrology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Center for Kidney Disease, Nashville, TN, USA., Ferdaus M; Department of Anesthesiology, Vanderbilt University Medical Center, Nashville, TN, USA., Arroyo JP; Division of Nephrology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Center for Kidney Disease, Nashville, TN, USA., L Rose K; Department of Biochemistry, Vanderbilt University School of Medicine, Nashville, TN, USA.; Mass Spectrometry Research Center, Vanderbilt University School of Medicine, Nashville, TN, USA., Patel P; Mass Spectrometry Research Center, Vanderbilt University School of Medicine, Nashville, TN, USA., Denton JS; Department of Anesthesiology, Vanderbilt University Medical Center, Nashville, TN, USA., Delpire E; Department of Anesthesiology, Vanderbilt University Medical Center, Nashville, TN, USA., Weinstein AM; Department of Physiology and Biophysics, Weil Medical College, New York, NY, USA., Zhang MZ; Division of Nephrology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Center for Kidney Disease, Nashville, TN, USA., Harris RC; Division of Nephrology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Center for Kidney Disease, Nashville, TN, USA.; Department of Veterans Affairs, Tennessee Valley Healthcare System, Nashville, TN, USA., Terker AS; Division of Nephrology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. Andrew.s.terker@vumc.org.; Vanderbilt Center for Kidney Disease, Nashville, TN, USA. Andrew.s.terker@vumc.org.

المصدر: Nature communications [Nat Commun] 2024 Jun 17; Vol. 15 (1), pp. 5144. Date of Electronic Publication: 2024 Jun 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Proto-Oncogene Proteins c-akt*/metabolism , Potassium Channels, Inwardly Rectifying*/metabolism , Potassium Channels, Inwardly Rectifying*/genetics , TOR Serine-Threonine Kinases*/metabolism , Signal Transduction* , Mice, Knockout* , Potassium*/metabolism , Kidney Tubules, Proximal*/metabolism , Mechanistic Target of Rapamycin Complex 2*/metabolism , Mechanistic Target of Rapamycin Complex 2*/genetics, Animals ; Mice ; Phosphorylation ; Male ; Chlorides/metabolism ; Mice, Inbred C57BL

المؤلفون: Beverley KM; Division of Pulmonary and Critical Care Medicine, Department of Medicine, University of Illinois at Chicago, Chicago, IL 60612, USA. Electronic address: kbeverle@uic.edu., Barbera N; Division of Pulmonary and Critical Care Medicine, Department of Medicine, University of Illinois at Chicago, Chicago, IL 60612, USA; Center for Public Health Genomics, Department of Biomedical Engineering, School of Engineering &Applied Science, University of Virginia, Charlottesville, VA 22904, USA., Levitan I; Division of Pulmonary and Critical Care Medicine, Department of Medicine, University of Illinois at Chicago, Chicago, IL 60612, USA. Electronic address: levitan@uic.edu.

المصدر: Journal of structural biology [J Struct Biol] 2024 Jun; Vol. 216 (2), pp. 108091. Date of Electronic Publication: 2024 Apr 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9011206 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-8657 (Electronic) Linking ISSN: 10478477 NLM ISO Abbreviation: J Struct Biol Subsets: MEDLINE

مواضيع طبية MeSH: Cholesterol*/metabolism , Cholesterol*/chemistry , Potassium Channels, Inwardly Rectifying*/metabolism , Potassium Channels, Inwardly Rectifying*/chemistry , Potassium Channels, Inwardly Rectifying*/genetics , Protein Binding*, Binding Sites ; Animals ; Humans ; Protein Conformation

المؤلفون: Remigante A; Department of Chemical, Biological, Pharmaceutical and Environmental Sciences, University of Messina, Messina, Italy., Spinelli S; Department of Chemical, Biological, Pharmaceutical and Environmental Sciences, University of Messina, Messina, Italy., Zuccolini P; Institute of Biophysics, National Research Council, Genova, Italy., Gavazzo P; Institute of Biophysics, National Research Council, Genova, Italy., Marino A; Department of Chemical, Biological, Pharmaceutical and Environmental Sciences, University of Messina, Messina, Italy., Pusch M; Institute of Biophysics, National Research Council, Genova, Italy., Morabito R; Department of Chemical, Biological, Pharmaceutical and Environmental Sciences, University of Messina, Messina, Italy., Dossena S; Institute of Pharmacology and Toxicology, Paracelsus Medical University, Salzburg, Austria.

المصدر: BioFactors (Oxford, England) [Biofactors] 2024 May-Jun; Vol. 50 (3), pp. 523-541. Date of Electronic Publication: 2023 Dec 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Ios Press Country of Publication: Netherlands NLM ID: 8807441 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-8081 (Electronic) Linking ISSN: 09516433 NLM ISO Abbreviation: Biofactors Subsets: MEDLINE

مواضيع طبية MeSH: Melatonin*/pharmacology , Oxidative Stress*/drug effects , Potassium Channels, Inwardly Rectifying*/metabolism , Potassium Channels, Inwardly Rectifying*/genetics , Aging*/drug effects , Neuroglia*/drug effects , Neuroglia*/metabolism , Antioxidants*/pharmacology , Galactose*/metabolism, Humans ; Lipid Peroxidation/drug effects ; Cell Line, Tumor

المؤلفون: Rokka S; Department of Kinesiology and Applied Physiology, College of Health SciencesUniversity of Delaware, Newark, Delaware, United States., Sadeghinejad M; Department of Kinesiology and Applied Physiology, College of Health SciencesUniversity of Delaware, Newark, Delaware, United States., Hudgins EC; Department of Kinesiology and Applied Physiology, College of Health SciencesUniversity of Delaware, Newark, Delaware, United States., Johnson EJ; Department of Kinesiology and Applied Physiology, College of Health SciencesUniversity of Delaware, Newark, Delaware, United States., Nguyen T; Department of Kinesiology and Applied Physiology, College of Health SciencesUniversity of Delaware, Newark, Delaware, United States., Fancher IS; Department of Kinesiology and Applied Physiology, College of Health SciencesUniversity of Delaware, Newark, Delaware, United States.

المصدر: American journal of physiology. Cell physiology [Am J Physiol Cell Physiol] 2024 May 01; Vol. 326 (5), pp. C1543-C1555. Date of Electronic Publication: 2024 Apr 08.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Physiological Society Country of Publication: United States NLM ID: 100901225 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1522-1563 (Electronic) Linking ISSN: 03636143 NLM ISO Abbreviation: Am J Physiol Cell Physiol Subsets: MEDLINE

مواضيع طبية MeSH: CD36 Antigens*/metabolism , CD36 Antigens*/genetics , Endothelial Cells*/metabolism , Intra-Abdominal Fat*/metabolism , Mice, Inbred C57BL* , Obesity*/metabolism , Potassium Channels, Inwardly Rectifying*/metabolism , Potassium Channels, Inwardly Rectifying*/genetics, Animals ; Mice ; Diet, High-Fat ; Endothelium, Vascular/metabolism ; Mice, Obese ; Subcutaneous Fat/metabolism

المؤلفون: Gutiérrez LK; Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain., Moreno-Manuel AI; Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain., Jalife J; Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain; CIBER de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain; Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan; Department of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, Michigan. Electronic address: jjalife@cnic.es.

المصدر: Heart rhythm [Heart Rhythm] 2024 May; Vol. 21 (5), pp. 630-646. Date of Electronic Publication: 2024 Jan 18.

نوع المنشور: Journal Article; Review; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 101200317 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1556-3871 (Electronic) Linking ISSN: 15475271 NLM ISO Abbreviation: Heart Rhythm Subsets: MEDLINE

مواضيع طبية MeSH: Potassium Channels, Inwardly Rectifying*/genetics , Potassium Channels, Inwardly Rectifying*/metabolism , Arrhythmias, Cardiac*/genetics , Arrhythmias, Cardiac*/metabolism , Arrhythmias, Cardiac*/physiopathology , NAV1.5 Voltage-Gated Sodium Channel*/genetics , NAV1.5 Voltage-Gated Sodium Channel*/metabolism, Humans ; Mutation ; Animals

المؤلفون: Moreno-Manuel AI; Centro Nacional de Investigaciones Cardiovasculares (CNIC), Melchor Fernández Almagro 3, 28029 Madrid, Spain., Macías Á; Centro Nacional de Investigaciones Cardiovasculares (CNIC), Melchor Fernández Almagro 3, 28029 Madrid, Spain., Cruz FM; Centro Nacional de Investigaciones Cardiovasculares (CNIC), Melchor Fernández Almagro 3, 28029 Madrid, Spain., Gutiérrez LK; Centro Nacional de Investigaciones Cardiovasculares (CNIC), Melchor Fernández Almagro 3, 28029 Madrid, Spain., Martínez F; Centro Nacional de Investigaciones Cardiovasculares (CNIC), Melchor Fernández Almagro 3, 28029 Madrid, Spain.; CIBER de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain., González-Guerra A; Centro Nacional de Investigaciones Cardiovasculares (CNIC), Melchor Fernández Almagro 3, 28029 Madrid, Spain., Martínez Carrascoso I; Centro Nacional de Investigaciones Cardiovasculares (CNIC), Melchor Fernández Almagro 3, 28029 Madrid, Spain., Bermúdez-Jimenez FJ; Centro Nacional de Investigaciones Cardiovasculares (CNIC), Melchor Fernández Almagro 3, 28029 Madrid, Spain.; Department of Cardiology, Hospital Universitario Virgen de las Nieves, 18014 Granada, Spain., Sánchez-Pérez P; Centro Nacional de Investigaciones Cardiovasculares (CNIC), Melchor Fernández Almagro 3, 28029 Madrid, Spain., Vera-Pedrosa ML; Centro Nacional de Investigaciones Cardiovasculares (CNIC), Melchor Fernández Almagro 3, 28029 Madrid, Spain., Ruiz-Robles JM; Centro Nacional de Investigaciones Cardiovasculares (CNIC), Melchor Fernández Almagro 3, 28029 Madrid, Spain., Bernal JA; Centro Nacional de Investigaciones Cardiovasculares (CNIC), Melchor Fernández Almagro 3, 28029 Madrid, Spain.; CIBER de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain., Jalife J; Centro Nacional de Investigaciones Cardiovasculares (CNIC), Melchor Fernández Almagro 3, 28029 Madrid, Spain.; CIBER de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.; Departments of Internal Medicine and Molecular and Integrative Physiology, Center for Arrhythmia Research, University of Michigan, Ann Arbor, MI 4810, USA.

المصدر: Cardiovascular research [Cardiovasc Res] 2024 Apr 30; Vol. 120 (5), pp. 490-505.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford Journals Country of Publication: England NLM ID: 0077427 Publication Model: Print Cited Medium: Internet ISSN: 1755-3245 (Electronic) Linking ISSN: 00086363 NLM ISO Abbreviation: Cardiovasc Res Subsets: MEDLINE

مواضيع طبية MeSH: Atrial Fibrillation*/genetics , Atrial Fibrillation*/physiopathology , Atrial Fibrillation*/metabolism , Disease Models, Animal* , Myocytes, Cardiac*/metabolism , Myocytes, Cardiac*/pathology , Potassium Channels, Inwardly Rectifying*/genetics , Potassium Channels, Inwardly Rectifying*/metabolism, Animals ; Humans ; Mice ; Action Potentials ; Arrhythmias, Cardiac/genetics ; Arrhythmias, Cardiac/physiopathology ; Arrhythmias, Cardiac/metabolism ; Genetic Predisposition to Disease ; Heart Rate/genetics ; Heart Ventricles/metabolism ; Heart Ventricles/physiopathology ; Mice, Inbred C57BL ; Mice, Transgenic ; Mutation ; Phenotype

SCR Disease Name: Short Qt Syndrome

المؤلفون: Bataveljic D; Neuroglial Interactions in Cerebral Physiology and Pathologies, Center for Interdisciplinary Research in Biology, Collège de France, CNRS, INSERM, Labex Memolife, Université PSL, Paris, France.; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Pivonkova H; Neuroglial Interactions in Cerebral Physiology and Pathologies, Center for Interdisciplinary Research in Biology, Collège de France, CNRS, INSERM, Labex Memolife, Université PSL, Paris, France.; Department of Physiology, 2nd Faculty of Medicine, Charles University, Prague, Czech Republic., de Concini V; Experimental and Molecular Immunology and Neurogenetics, CNRS UMR7355 and Orléans University, Orléans, France., Hébert B; Experimental and Molecular Immunology and Neurogenetics, CNRS UMR7355 and Orléans University, Orléans, France., Ezan P; Neuroglial Interactions in Cerebral Physiology and Pathologies, Center for Interdisciplinary Research in Biology, Collège de France, CNRS, INSERM, Labex Memolife, Université PSL, Paris, France., Briault S; Experimental and Molecular Immunology and Neurogenetics, CNRS UMR7355 and Orléans University, Orléans, France.; Department of Genetics, Regional Hospital, Orléans, France., Bemelmans AP; Commissariat à l'Energie Atomique et aux Energies Alternatives (CEA), Département de la Recherche Fondamentale, Institut de biologie François Jacob, MIRCen, and CNRS UMR 9199, Université Paris-Sud, Neurodegenerative Diseases Laboratory, Fontenay-aux-Roses, 92260, France., Pichon J; Experimental and Molecular Immunology and Neurogenetics, CNRS UMR7355 and Orléans University, Orléans, France., Menuet A; Experimental and Molecular Immunology and Neurogenetics, CNRS UMR7355 and Orléans University, Orléans, France., Rouach N; Neuroglial Interactions in Cerebral Physiology and Pathologies, Center for Interdisciplinary Research in Biology, Collège de France, CNRS, INSERM, Labex Memolife, Université PSL, Paris, France. nathalie.rouach@college-de-france.fr.

المصدر: Nature communications [Nat Commun] 2024 Apr 27; Vol. 15 (1), pp. 3583. Date of Electronic Publication: 2024 Apr 27.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Astrocytes*/metabolism , Fragile X Mental Retardation Protein*/metabolism , Fragile X Mental Retardation Protein*/genetics , Fragile X Syndrome*/metabolism , Fragile X Syndrome*/genetics , Fragile X Syndrome*/physiopathology , Neurons*/metabolism , Neurons*/physiology , Potassium Channels, Inwardly Rectifying*/metabolism , Potassium Channels, Inwardly Rectifying*/genetics, Animals ; Male ; Mice ; Behavior, Animal ; Disease Models, Animal ; Hippocampus/metabolism ; Mice, Inbred C57BL ; Mice, Knockout ; Potassium/metabolism ; RNA, Messenger/metabolism ; RNA, Messenger/genetics

المؤلفون: Elangeeb ME; Department of Basic Medical Sciences, College of Applied Medical Sciences, University of Bisha, Bisha 61922, Saudi Arabia., Elfaki I; Department of Biochemistry, Faculty of Science, University of Tabuk, Tabuk 71491, Saudi Arabia., Eleragi AMS; Department of Microbiology, College of Medicine, University of Bisha, Bisha 61922, Saudi Arabia., Ahmed EM; Department of Medical Laboratory Sciences, College of Applied Medical Sciences, University of Bisha, Bisha 61922, Saudi Arabia.; Department of Clinical Chemistry, Faculty of Medical Laboratory Sciences, University of El Imam El Mahdi, Kosti 27711, Sudan., Mir R; Department of Medical Laboratory Technology, Prince Fahad Bin Sultan Chair for Biomedical Research, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk 71491, Saudi Arabia., Alzahrani SM; Department of Biochemistry, Faculty of Science, University of Tabuk, Tabuk 71491, Saudi Arabia., Bedaiwi RI; Department of Medical Laboratory Technology, Prince Fahad Bin Sultan Chair for Biomedical Research, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk 71491, Saudi Arabia., Alharbi ZM; Department of Medical Laboratory Technology, Prince Fahad Bin Sultan Chair for Biomedical Research, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk 71491, Saudi Arabia., Mir MM; Department of Clinical Biochemistry, College of Medicine, University of Bisha, Bisha 61922, Saudi Arabia., Ajmal MR; Department of Biochemistry, Faculty of Science, University of Tabuk, Tabuk 71491, Saudi Arabia., Tayeb FJ; Department of Medical Laboratory Technology, Prince Fahad Bin Sultan Chair for Biomedical Research, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk 71491, Saudi Arabia., Barnawi J; Department of Medical Laboratory Technology, Prince Fahad Bin Sultan Chair for Biomedical Research, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk 71491, Saudi Arabia.

المصدر: Molecules (Basel, Switzerland) [Molecules] 2024 Apr 22; Vol. 29 (8). Date of Electronic Publication: 2024 Apr 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 100964009 Publication Model: Electronic Cited Medium: Internet ISSN: 1420-3049 (Electronic) Linking ISSN: 14203049 NLM ISO Abbreviation: Molecules Subsets: MEDLINE

مواضيع طبية MeSH: Potassium Channels, Inwardly Rectifying*/genetics , Potassium Channels, Inwardly Rectifying*/metabolism , Potassium Channels, Inwardly Rectifying*/chemistry , Molecular Dynamics Simulation* , Diabetes Mellitus*/genetics , Diabetes Mellitus*/metabolism, Humans ; Mutation ; Genetic Predisposition to Disease ; Binding Sites ; Protein Binding

المؤلفون: Lai JD; Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA; Amgen Inc., Thousand Oaks, CA, USA; Neurological & Rare Diseases, Dewpoint Therapeutics, Boston, MA, USA. Electronic address: jesselai91@gmail.com., Berlind JE; Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA; Eli and Edythe Broad CIRM Center for Regenerative Medicine and Stem Cell Research, University of Southern California, Los Angeles, CA, USA., Fricklas G; Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA; Eli and Edythe Broad CIRM Center for Regenerative Medicine and Stem Cell Research, University of Southern California, Los Angeles, CA, USA., Lie C; Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA; Eli and Edythe Broad CIRM Center for Regenerative Medicine and Stem Cell Research, University of Southern California, Los Angeles, CA, USA., Urenda JP; Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA; Eli and Edythe Broad CIRM Center for Regenerative Medicine and Stem Cell Research, University of Southern California, Los Angeles, CA, USA., Lam K; Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA; Eli and Edythe Broad CIRM Center for Regenerative Medicine and Stem Cell Research, University of Southern California, Los Angeles, CA, USA., Sta Maria N; Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Jacobs R; Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Yu V; Amgen Inc., Thousand Oaks, CA, USA; Neurological & Rare Diseases, Dewpoint Therapeutics, Boston, MA, USA., Zhao Z; Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Ichida JK; Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA; Eli and Edythe Broad CIRM Center for Regenerative Medicine and Stem Cell Research, University of Southern California, Los Angeles, CA, USA; Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. Electronic address: ichida@usc.edu.

المصدر: Cell stem cell [Cell Stem Cell] 2024 Apr 04; Vol. 31 (4), pp. 519-536.e8.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 101311472 Publication Model: Print Cited Medium: Internet ISSN: 1875-9777 (Electronic) Linking ISSN: 18759777 NLM ISO Abbreviation: Cell Stem Cell Subsets: MEDLINE

مواضيع طبية MeSH: Amyotrophic Lateral Sclerosis*/etiology , Amyotrophic Lateral Sclerosis*/pathology , Brain Injuries, Traumatic*/drug therapy , Brain Injuries, Traumatic*/metabolism , Brain Injuries, Traumatic*/therapy , Frontotemporal Dementia*/etiology , Frontotemporal Dementia*/pathology , Neurodegenerative Diseases*/etiology , Neurodegenerative Diseases*/pathology , Potassium Channels, Inwardly Rectifying*/antagonists & inhibitors , Potassium Channels, Inwardly Rectifying*/metabolism, Humans ; Brain/metabolism ; C9orf72 Protein/metabolism ; DNA-Binding Proteins/metabolism

المؤلفون: Wirth T; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Département de Médecine Translationnelle et Neurogénétique, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch-Graffenstaden, France.; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg, France., Roze E; Département de Neurologie, Assistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France.; Institut du Cerveau, Sorbonne Université, INSERM-U1127/CNRS-UMR7225, Hôpital Pitié-Salpêtrière, Paris, France., Delvallée C; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Département de Médecine Translationnelle et Neurogénétique, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch-Graffenstaden, France.; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg, France., Trouillard O; Institut du Cerveau, Sorbonne Université, INSERM-U1127/CNRS-UMR7225, Hôpital Pitié-Salpêtrière, Paris, France., Drouot N; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg, France., Damier P; Service de Neurologie, CHU de Nantes, Nantes, France., Boulay C; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Bourgninaud M; Département de Neurologie, Assistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France.; Institut du Cerveau, Sorbonne Université, INSERM-U1127/CNRS-UMR7225, Hôpital Pitié-Salpêtrière, Paris, France., Jegatheesan P; Département de Neurologie, Assistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France.; Institut du Cerveau, Sorbonne Université, INSERM-U1127/CNRS-UMR7225, Hôpital Pitié-Salpêtrière, Paris, France., Sangare A; Département de Neurologie, Assistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France.; Institut du Cerveau, Sorbonne Université, INSERM-U1127/CNRS-UMR7225, Hôpital Pitié-Salpêtrière, Paris, France., Forlani S; Département de Neurologie, Assistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France.; Institut du Cerveau, Sorbonne Université, INSERM-U1127/CNRS-UMR7225, Hôpital Pitié-Salpêtrière, Paris, France., Gaymard B; Département de Neurologie, Assistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France.; Institut du Cerveau, Sorbonne Université, INSERM-U1127/CNRS-UMR7225, Hôpital Pitié-Salpêtrière, Paris, France., Hervochon R; Service d'Oto-Rhino-Laryngologie, Assistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France., Navarro V; Département de Neurologie, Assistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France.; Institut du Cerveau, Sorbonne Université, INSERM-U1127/CNRS-UMR7225, Hôpital Pitié-Salpêtrière, Paris, France., Calmels N; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg, France.; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Schalk A; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg, France.; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Tranchant C; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Département de Médecine Translationnelle et Neurogénétique, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch-Graffenstaden, France.; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg, France., Piton A; Département de Médecine Translationnelle et Neurogénétique, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch-Graffenstaden, France.; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg, France.; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Méneret A; Département de Neurologie, Assistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France.; Institut du Cerveau, Sorbonne Université, INSERM-U1127/CNRS-UMR7225, Hôpital Pitié-Salpêtrière, Paris, France., Anheim M; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Département de Médecine Translationnelle et Neurogénétique, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch-Graffenstaden, France.; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg, France.

المصدر: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 May; Vol. 39 (5), pp. 897-905. Date of Electronic Publication: 2024 Mar 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense*/genetics , Potassium Channels, Inwardly Rectifying*/genetics, Humans ; Male ; Female ; Adult ; Adolescent ; Child ; Dystonia/genetics ; Young Adult ; Pedigree ; Middle Aged ; Exome Sequencing ; Child, Preschool

SCR Disease Name: Familial paroxysmal dystonia