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1Academic Journal
المؤلفون: Forrest, Marc P, Dos Santos, Marc, Piguel, Nicolas H, Wang, Yi-Zhi, Hawkins, Nicole A, Bagchi, Vikram A, Dionisio, Leonardo E, Yoon, Sehyoun, Simkin, Dina, Martin-de-Saavedra, Maria Dolores, Gao, Ruoqi, Horan, Katherine E, George, Alfred L, LeDoux, Mark S, Kearney, Jennifer A, Savas, Jeffrey N, Penzes, Peter
المصدر: Nature Communications. 14(1)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Psychology, Brain Disorders, Epilepsy, Mental Health, Intellectual and Developmental Disabilities (IDD), Schizophrenia, Neurosciences, Autism, Neurodegenerative, Biotechnology, Aetiology, 2.1 Biological and endogenous factors, Neurological, Mental health, Animals, Mice, Autism Spectrum Disorder, Brain, Chromosome Deletion, DNA Copy Number Variations, Intellectual Disability, Membrane Proteins, Phenotype
وصف الملف: application/pdf
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2Academic Journal
المؤلفون: Knowles, Juliet K, Helbig, Ingo, Metcalf, Cameron S, Lubbers, Laura S, Isom, Lori L, Demarest, Scott, Goldberg, Ethan M, George, Alfred L, Lerche, Holger, Weckhuysen, Sarah, Whittemore, Vicky, Berkovic, Samuel F, Lowenstein, Daniel H
المصدر: Epilepsia. 63(10)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Clinical Research, Brain Disorders, Neurodegenerative, Epilepsy, Neurological, Good Health and Well Being, Genetic Testing, Humans, Precision Medicine, Seizures, Suggestion, epilepsy, exome sequencing, genomic medicine, personalized medicine, precision medicine, Neurology & Neurosurgery, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/35g3c2vh
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3Academic Journal
المؤلفون: Echevarria-Cooper, Dennis M, Hawkins, Nicole A, Misra, Sunita N, Huffman, Alexandra M, Thaxton, Tyler, Thompson, Christopher H, Ben-Shalom, Roy, Nelson, Andrew D, Lipkin, Anna M, George, Alfred L, Bender, Kevin J, Kearney, Jennifer A
المصدر: Human Molecular Genetics. 31(17)
مصطلحات موضوعية: Biological Sciences, Genetics, Epilepsy, Brain Disorders, Autism, Intellectual and Developmental Disabilities (IDD), Basic Behavioral and Social Science, Behavioral and Social Science, Pediatric, Neurosciences, Neurodegenerative, Mental Health, 2.1 Biological and endogenous factors, Neurological, Animals, Autism Spectrum Disorder, Calcium, Humans, Mice, NAV1.2 Voltage-Gated Sodium Channel, Permeability, Seizures, Sodium, Sodium Channels, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
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4Academic Journal
المؤلفون: Delisle, Brian P, George, Alfred L, Nerbonne, Jeanne M, Bass, Joseph T, Ripplinger, Crystal M, Jain, Mukesh K, Hermanstyne, Tracey O, Young, Martin E, Kannankeril, Prince J, Duffy, Jeanne F, Goldhaber, Joshua I, Hall, Martica H, Somers, Virend K, Smolensky, Michael H, Garnett, Christine E, Anafi, Ron C, Scheer, Frank AJL, Shivkumar, Kalyanam, Shea, Steven A, Balijepalli, Ravi C
المصدر: Circulation Arrhythmia and Electrophysiology. 14(11)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Sleep Research, Heart Disease, Cardiovascular, Animals, Circadian Rhythm, Death, Sudden, Cardiac, Humans, National Heart, Lung, and Blood Institute (U.S.), United States, cardiovascular disease, circadian clocks, circadian rhythm, National Heart, Lung, and Blood Institute, sudden cardiac death, National Heart, Lung, and Blood Institute, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Medical Physiology, Cardiovascular System & Hematology, Cardiovascular medicine and haematology, Clinical sciences, Medical physiology
وصف الملف: application/pdf
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5Academic Journal
المؤلفون: Delisle, Brian P, George, Alfred L, Nerbonne, Jeanne M, Bass, Joseph T, Ripplinger, Crystal M, Jain, Mukesh K, Hermanstyne, Tracey O, Young, Martin E, Kannankeril, Prince J, Duffy, Jeanne F, Goldhaber, Joshua I, Hall, Martica H, Somers, Virend K, Smolensky, Michael H, Garnett, Christine E, Anafi, Ron C, Scheer, Frank AJL, Shivkumar, Kalyanam, Shea, Steven A, Balijepalli, Ravi C
المصدر: Circulation Arrhythmia and Electrophysiology. 14(11)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Medical Physiology, Cardiovascular Medicine and Haematology, Clinical Sciences, Prevention, Cardiovascular, Sleep Research, Clinical Research, Heart Disease, 2.1 Biological and endogenous factors, Good Health and Well Being, Circadian Rhythm, Death, Sudden, Cardiac, Humans, National Heart, Lung, and Blood Institute (U.S.), Population Surveillance, United States, cardiovascular diseases, circadian clock, circadian rhythm, genetics, National Heart, Lung, and Blood Institute, population, sudden cardiac death, National Heart, Lung, and Blood Institute, Cardiorespiratory Medicine and Haematology, Cardiovascular System & Hematology, Cardiovascular medicine and haematology, Clinical sciences, Medical physiology
وصف الملف: application/pdf
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6Academic Journal
المؤلفون: Pablo, Juan Lorenzo B., Cornett, Savannah L., Wang, Lei A., Jo, Sooyeon, Brünger, Tobias, Budnik, Nikita, Hegde, Mudra, DeKeyser, Jean-Marc, Thompson, Christopher H., Doench, John G., Lal, Dennis, George, Alfred L., Pan, Jen Q.
المصدر: Cell Reports ; volume 43, issue 6, page 114327 ; ISSN 2211-1247
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7Academic Journal
المؤلفون: Panagiotakaki, Eleni, Tiziano, Francesco D, Mikati, Mohamad A, Vijfhuizen, Lisanne S, Nicole, Sophie, Lesca, Gaetan, Abiusi, Emanuela, Novelli, Agnese, Di Pietro, Lorena, I.B.AHC Consortium, IAHCRC Consortium, Harder, Aster V E, Walley, Nicole M, De Grandis, Elisa, Poulat, Anne-Lise, Portes, Vincent Des, Lépine, Anne, Nassogne, Marie-Cécile, Arzimanoglou, Alexis, Vavassori, Rosaria, Koenderink, Jan, Thompson, Christopher H, George, Alfred L, Gurrieri, Fiorella, van den Maagdenberg, Arn M J M, Heinzen, Erin L
المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique
المصدر: European journal of human genetics, Vol. 32, no.2, p. 224-231 (2024)
مصطلحات موضوعية: Humans, Hemiplegia, Exome Sequencing, Mutation, Missense, Sodium-Potassium-Exchanging ATPase, GTP-Binding Proteins, Tumor Suppressor Proteins, NAV1.2 Voltage-Gated Sodium Channel
Relation: boreal:289581; http://hdl.handle.net/2078.1/289581; info:pmid/38097767; urn:ISSN:1018-4813; urn:EISSN:1476-5438
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8Academic Journal
المؤلفون: BARC, Julien, TADROS, Rafik, GLINGE, Charlotte, CHIANG, David Y, JOUNI, Mariam, SIMONET, Floriane, JURGENS, Sean J, BAUDIC, Manon, NICASTRO, Michele, POTET, Franck, OFFERHAUS, Joost A, WALSH, Roddy, CHOI, Seung Hoan, VERKERK, Arie O, MIZUSAWA, Yuka, ANYS, Soraya, MINOIS, Damien, ARNAUD, Marine, DUCHATEAU, Josselin, WIJEYERATNE, Yanushi D, MUIR, Alison, PAPADAKIS, Michael, CASTELLETTI, Silvia, TORCHIO, Margherita, ORTUÑO, Cristina Gil, LACUNZA, Javier, GIACHINO, Daniela F, CERRATO, Natascia, MARTINS, Raphaël P, CAMPUZANO, Oscar, VAN DOOREN, Sonia, THOLLET, Aurélie, KYNDT, Florence, MAZZANTI, Andrea, CLÉMENTY, Nicolas, BISSON, Arnaud, CORVELEYN, Anniek, STALLMEYER, Birgit, DITTMANN, Sven, SAENEN, Johan, NOËL, Antoine, HONARBAKHSH, Shohreh, RUDIC, Boris, MARZAK, Halim, ROWE, Matthew K, FEDERSPIEL, Claire, LE PAGE, Sophie, PLACIDE, Leslie, MILHEM, Antoine, BARAJAS-MARTINEZ, Hector, BECKMANN, Britt-Maria, KRAPELS, Ingrid P, STEINFURT, Johannes, WINKEL, Bo Gregers, JABBARI, Reza, SHOEMAKER, Moore B, BOUKENS, Bas J, ŠKORIĆ-MILOSAVLJEVIĆ, Doris, BIKKER, Hennie, MANEVY, Federico, LICHTNER, Peter, RIBASÉS, Marta, MEITINGER, Thomas, MÜLLER-NURASYID, Martina, VELDINK, Jan H, VAN DEN BERG, Leonard H, VAN DAMME, Philip, CUSI, Daniele, LANZANI, Chiara, RIGADE, Sidwell, CHARPENTIER, Eric, BARON, Estelle, BONNAUD, Stéphanie, LECOINTE, Simon, DONNART, Audrey, LE MAREC, Hervé, CHATEL, Stéphanie, KARAKACHOFF, Matilde, BÉZIEAU, Stéphane, LONDON, Barry, TFELT-HANSEN, Jacob, RODEN, Dan, ODENING, Katja E, CERRONE, Marina, CHINITZ, Larry A, VOLDERS, Paul G, VAN DE BERG, Maarten P, LAURENT, Gabriel, FAIVRE, Laurence, ANTZELEVITCH, Charles, KÄÄB, Stefan, ARNAOUT, Alain Al, DUPUIS, Jean-Marc, PASQUIE, Jean-Luc, BILLON, Olivier, ROBERTS, Jason D, JESEL, Laurence, BORGGREFE, Martin, LAMBIASE, Pier D, MANSOURATI, Jacques, LOEYS, Bart, LEENHARDT, Antoine, GUICHENEY, Pascale, MAURY, Philippe, SCHULZE-BAHR, Eric, ROBYNS, Tomas, BRECKPOT, Jeroen, BABUTY, Dominique, PRIORI, Silvia G, NAPOLITANO, Carlo, DE ASMUNDIS, Carlo, BRUGADA, Pedro, BRUGADA, Ramon, ARBELO, Elena, BRUGADA, Josep, MABO, Philippe, BEHAR, Nathalie, GIUSTETTO, Carla, MOLINA, Maria Sabater, GIMENO, Juan R, HASDEMIR, Can, SCHWARTZ, Peter J, CROTTI, Lia, MCKEOWN, Pascal P, SHARMA, Sanjay, BEHR, Elijah R, HAISSAGUERRE, Michel, SACHER, Frédéric, ROORYCK, Caroline, TAN, Hanno L, REMME, Carol A, POSTEMA, Pieter G, DELMAR, Mario, ELLINOR, Patrick T, LUBITZ, Steven A, GOURRAUD, Jean-Baptiste, TANCK, Michael W, GEORGE, Alfred L, MACRAE, Calum A, BURRIDGE, Paul W, DINA, Christian, PROBST, Vincent, WILDE, Arthur A, SCHOTT, Jean-Jacques, REDON, Richard, BEZZINA, Connie R
مصطلحات موضوعية: Alleles, Brugada Syndrome, Disease Susceptibility, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Microtubule-Associated Proteins, Mutation, NAV1.5 Voltage-Gated Sodium Channel, Young Adult, Sciences du Vivant [q-bio]/Médecine humaine et pathologie
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9Academic Journal
المؤلفون: Puckelwartz, Megan J., Pesce, Lorenzo L., Hernandez, Edgar J., Webster, Gregory, Dellefave-Castillo, Lisa M., Russell, Mark W., Geisler, Sarah S., Kearns, Samuel D., Karthik, Felix, Etheridge, Susan P., Monroe, Tanner O., Pottinger, Tess D., Kannankeril, Prince J., Shoemaker, M. Benjamin, Fountain, Darlene, Roden, Dan M., Faulkner, Meghan, MacLeod, Heather M., Burns, Kristin M., Yandell, Mark, Tristani-Firouzi, Martin, George, Alfred L., McNally, Elizabeth M.
المساهمون: National Heart, Lung, and Blood Institute, American Heart Association
المصدر: Genome Medicine ; volume 16, issue 1 ; ISSN 1756-994X
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10Academic Journal
المؤلفون: Berg, Anne T, Thompson, Christopher H, Myers, Leah Schust, Anderson, Erica, Evans, Lindsey, Kaiser, Ariela J E, Paltell, Katherine, Nili, Amanda N, DeKeyser, Jean-Marc L, Abramova, Tatiana V, Nesbitt, Gerry, Egan, Shawn M, Vanoye, Carlos G, George, Alfred L
المساهمون: National Institute of Neurological Diseases, Simons Foundation Autism Research
المصدر: Brain ; volume 147, issue 8, page 2761-2774 ; ISSN 0006-8950 1460-2156
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11Academic Journal
المؤلفون: Fetterman, K. Ashley, Blancard, Malorie, Lyra-Leite, Davi M., Vanoye, Carlos G., Fonoudi, Hananeh, Jouni, Mariam, DeKeyser, Jean-Marc L., Lenny, Brian, Sapkota, Yadav, George, Alfred L., Burridge, Paul W.
المساهمون: Fondation Leducq, NIH
المصدر: Cell Reports ; volume 43, issue 5, page 114160 ; ISSN 2211-1247
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12Academic Journal
المؤلفون: Kang, Seok Kyu, Hawkins, Nicole A., Thompson, Christopher H., Baker, Erin M., Echevarria-Cooper, Dennis M., Barse, Levi, Thenstedt, Tyler, Dixon, Conor J., Speakes, Nathan, George, Alfred L., Kearney, Jennifer A.
المساهمون: National Institute of Neurological Disorders and Stroke, National Institutes of Health, National Cancer Institute
المصدر: Neurobiology of Disease ; volume 194, page 106470 ; ISSN 0969-9961
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13Academic JournalEpilepsy and neurobehavioral abnormalities in mice with a dominant-negative KCNB1 pathogenic variant
المؤلفون: Hawkins, Nicole A, Misra, Sunita N, Jurado, Manuel, Kang, Seok Kyu, Vierra, Nicholas C, Nguyen, Kimberly, Wren, Lisa, George, Alfred L, Trimmer, James S, Kearney, Jennifer A
مصطلحات موضوعية: Medical Physiology, Biomedical and Clinical Sciences, Brain Disorders, Genetics, Neurodegenerative, Pediatric, Epilepsy, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Neurological, Good Health and Well Being, Animals, Disease Models, Animal, Epileptic Syndromes, Gene Knock-In Techniques, HEK293 Cells, Humans, Mice, Mutation, Missense, Shab Potassium Channels, Encephalopathy, Autism spectrum disorder, Developmental disorder, Voltage-gated potassium channels, Voltage-gated ion channels, K(V)2.1, Clinical Sciences, Neurology & Neurosurgery, Biochemistry and cell biology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/5r19s6q3
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14Academic Journal
المؤلفون: Ledford, Hannah A, Park, Seojin, Muir, Duncan, Woltz, Ryan L, Ren, Lu, Nguyen, Phuong T, Sirish, Padmini, Wang, Wenying, Sihn, Choong-Ryoul, George, Alfred L, Knollmann, Björn C, Yamoah, Ebenezer N, Yarov-Yarovoy, Vladimir, Zhang, Xiao-Dong, Chiamvimonvat, Nipavan
المصدر: The Journal of General Physiology. 152(12)
مصطلحات موضوعية: Medical Physiology, Biomedical and Clinical Sciences, Cardiovascular, Heart Disease, Stem Cell Research - Induced Pluripotent Stem Cell, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Stem Cell Research, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Arrhythmias, Cardiac, Calcium, Calmodulin, Humans, Induced Pluripotent Stem Cells, Mutation, Small-Conductance Calcium-Activated Potassium Channels, Physiology, Biochemistry and cell biology, Zoology, Medical physiology
وصف الملف: application/pdf
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15Academic Journal
المصدر: The Journal of General Physiology. 152(3)
مصطلحات موضوعية: Neurodegenerative, Neurosciences, Epilepsy, Brain Disorders, Pediatric, Genetics, 1.1 Normal biological development and functioning, Underpinning research, 2.1 Biological and endogenous factors, Aetiology, Neurological, Alternative Splicing, Brain, Brain Diseases, Genetic Variation, Humans, NAV1.2 Voltage-Gated Sodium Channel, Neurons, Patch-Clamp Techniques, Protein Isoforms, RNA, Messenger, Physiology, Medical Physiology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/0wb14751
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16Academic Journal
المؤلفون: Sanders, Stephan J, Campbell, Arthur J, Cottrell, Jeffrey R, Moller, Rikke S, Wagner, Florence F, Auldridge, Angie L, Bernier, Raphael A, Catterall, William A, Chung, Wendy K, Empfield, James R, George, Alfred L, Hipp, Joerg F, Khwaja, Omar, Kiskinis, Evangelos, Lal, Dennis, Malhotra, Dheeraj, Millichap, John J, Otis, Thomas S, Petrou, Steven, Pitt, Geoffrey, Schust, Leah F, Taylor, Cora M, Tjernagel, Jennifer, Spiro, John E, Bender, Kevin J
المصدر: Trends in neurosciences. 41(7)
مصطلحات موضوعية: Animals, Humans, NAV1.2 Voltage-Gated Sodium Channel, Neurodevelopmental Disorders, Na(V)1.2, autism spectrum disorder, developmental delay, epilepsy, intellectual disability, neurodevelopment, neurodevelopmental disorder, sodium channel, Neurodegenerative, Brain Disorders, Neurosciences, Genetics, Mental Health, Intellectual and Developmental Disabilities (IDD), Autism, 2.1 Biological and endogenous factors, Aetiology, Neurological, Psychology, Cognitive Sciences, Neurology & Neurosurgery
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/1b1284bd
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17Academic Journal
المؤلفون: Simkin, Dina, Papakis, Vasileios, Bustos, Bernabe I, Ambrosi, Christina M, Ryan, Steven J, Baru, Valeriya, Williams, Luis A, Dempsey, Graham T, McManus, Owen B, Landers, John E, Lubbe, Steven J, George, Alfred L, Kiskinis, Evangelos
المساهمون: Neurology
المصدر: Stem cell reports ; 17 ; 4 ; 993 ; 1008 ; United States
مصطلحات موضوعية: CRISPR/Cas9, KCNQ2, WGS, disease modeling, genome editing, iPSCs, isogenic control lines, mtDNA, on-target insertions/deletions
Relation: Stem Cell Reports; https://doi.org/10.1016/j.stemcr.2022.02.008; Simkin D, Papakis V, Bustos BI, Ambrosi CM, Ryan SJ, Baru V, Williams LA, Dempsey GT, McManus OB, Landers JE, Lubbe SJ, George AL Jr, Kiskinis E. Homozygous might be hemizygous: CRISPR/Cas9 editing in iPSCs results in detrimental on-target defects that escape standard quality controls. Stem Cell Reports. 2022 Apr 12;17(4):993-1008. doi:10.1016/j.stemcr.2022.02.008. Epub 2022 Mar 10. PMID: 35276091; PMCID: PMC9023783.; http://hdl.handle.net/20.500.14038/52437
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18Academic JournalOutlining cardiac ion channel protein interactors and their signature in the human electrocardiogram
المؤلفون: Maurya, Svetlana, Mills, Robert W., Kahnert, Konstantin, Chiang, David Y., Bertoli, Giorgia, Lundegaard, Pia R., Duran, Marta Perez Hernandez, Zhang, Mingliang, Rothenberg, Eli, George, Alfred L., MacRae, Calum A., Delmar, Mario, Lundby, Alicia
المصدر: Maurya , S , Mills , R W , Kahnert , K , Chiang , D Y , Bertoli , G , Lundegaard , P R , Duran , M P H , Zhang , M , Rothenberg , E , George , A L , MacRae , C A , Delmar , M & Lundby , A 2023 , ' Outlining cardiac ion channel protein interactors and their signature in the human electrocardiogram ' , Nature Cardiovascular Research , vol. 2 , no. 7 , pp. 673-692 . https://doi.org/10.1038/s44161-023-00294-y
وصف الملف: application/pdf
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19Academic Journal
المصدر: Epilepsia ; volume 64, issue 11, page 2909-2913 ; ISSN 0013-9580 1528-1167
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20Academic Journal
المؤلفون: Cao, Yang, Liu, Huachun, Lu, Shannon S., Jones, Krysten A., Govind, Anitha P., Jeyifous, Okunola, Simmons, Christine Q., Tabatabaei, Negar, Green, William N., Holder, Jimmy. L., Tahmasebi, Soroush, George, Alfred L., Dickinson, Bryan C.
المساهمون: U.S. Department of Health & Human Services | National Institutes of Health
المصدر: Nature Communications ; volume 14, issue 1 ; ISSN 2041-1723