Severe Arrhythmia Disorder Caused by Cardiac L-Type Calcium Channel Mutations von Splawski, Igor, Timothy, Katherine W., Decher, Niels, Kumar, Pradeep, Sachse, Frank B., Beggs, Alan H., Sanguinetti, Michael C., Keating, Mark T.

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Tesidolumab (LFG316) for treatment of C5-variant patients with paroxysmal nocturnal hemoglobinuria von Nishimura, Jun-Ichi, Ando, Kiyoshi, Masuko, Masayoshi, Noji, Hideyoshi, Ito, Yoshikazu, Mayer, Jiri, Griskevicius, Laimonas, Bucher, Christoph, Müllershausen, Florian, Gergely, Peter, Rozenberg, Izabela, Schubart, Anna, Chawla, Raghav, Rondeau, Jean-Michel, Roguska, Michael, Splawski, Igor, Keating, Mark T, Johnson, Leslie, Danekula, Rambabu, Bagger, Morten, Watanabe, Yoko, Haraldsson, Börje, Kanakura, Yuzuru

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A Cardiac Arrhythmia Syndrome Caused by Loss of Ankyrin-B Function von Mohler, Peter J., Splawski, Igor, Napolitano, Carlo, Bottelli, Georgia, Sharpe, Leah, Timothy, Katherine, Priori, Silvia G., Keating, Mark T., Bennett, Vann, Latorre, Ramon

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CACNA1H Mutations in Autism Spectrum Disorders von Splawski, Igor, Yoo, Dana S., Stotz, Stephanie C., Cherry, Allison, Clapham, David E., Keating, Mark T.

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Variant of SCN5A Sodium Channel Implicated in Risk of Cardiac Arrhythmia von Splawski, Igor, Timothy, Katherine W., Tateyama, Michihiro, Clancy, Colleen E., Malhotra, Alka, Beggs, Alan H., Cappuccio, Francesco P., Sagnella, Giuseppe A., Kass, Robert S., Keating, Mark T.

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Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: Implications for arrhythmogenic susceptibility and Brugada/long QT s... von Ackerman, Michael J., Splawski, Igor, Makielski, Jonathan C., Tester, David J., Will, Melissa L., Timothy, Katherine W., Keating, Mark T., Jones, Gregg, Chadha, Monica, Burrow, Christopher R., Stephens, J. Claiborne, Xu, Chuanbo, Judson, Richard, Curran, Mark E.

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A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome von Curran, Mark E, Splawski, Igor, Timothy, Katherine W, Vincen, G.Michael, Green, Eric D, Keating, Mark T

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Long QT Syndrome-associated Mutations in the Per-Arnt-Sim (PAS) Domain of HERG Potassium Channels Accelerate Channel Deactivation von Chen, J, Zou, A, Splawski, I, Keating, M T, Sanguinetti, M C

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Long QT Syndrome-associated Mutations in the S4-S5 Linker of KvLQT1 Potassium Channels Modify Gating and Interaction with minK Subunits von Franqueza, Laura, Lin, Monica, Splawski, Igor, Keating, Mark T., Sanguinetti, Michael C.

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TRPM1 forms ion channels associated with melanin content in melanocytes von Oancea, Elena, Vriens, Joris, Brauchi, Sebastian, Jun, Janice, Splawski, Igor, Clapham, David E

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Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism von Splawski, Igor, Timothy, Katherine W, Sharpe, Leah M, Decher, Niels, Kumar, Pradeep, Bloise, Raffaella, Napolitano, Carlo, Schwartz, Peter J, Joseph, Robert M, Condouris, Karen, Tager-Flusberg, Helen, Priori, Silvia G, Sanguinetti, Michael C, Keating, Mark T

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Compound mutations: A common cause of severe long-Qt syndrome von WESTENSKOW, Peter, SPLAWSKI, Igor, TIMOTHY, Katherine W, KEATING, Mark T, SANGUINETTI, Michael C

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Spectrum of mutations in long-QT syndrome genes : KVLQT1, HERG, SCN5A, KCNE1, and KCNE2 von SPLAWSKI, I, JIAXIANG SHEN, KEATING, M. T, TIMOTHY, K. W, LEHMANN, M. H, PRIORI, S, ROBINSON, J. L, MOSS, A. J, SCHWARTZ, P. J, TOWBIN, J. A, VINCENT, G. M

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MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia von Abbott, G W, Sesti, F, Splawski, I, Buck, M E, Lehmann, M H, Timothy, K W, Keating, M T, Goldstein, S A

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Identification and characterization of human GDF15 knockouts von Gurtan, Allan M., Khalid, Shareef, Koch, Christopher, Khan, Maleeha Zaman, Lamarche, Lindsey B., Splawski, Igor, Dolan, Elizabeth, Carrion, Ana M., Zessis, Richard, Clement, Matthew E., Chen, Zhiping, Lindsley, Loren D., Chiu, Yu-Hsin, Streeper, Ryan S., Denning, Daniel P., Goldfine, Allison B., Doyon, Brian, Abbasi, Ali, Harrow, Jennifer L., Tsunoyama, Kazuhisa, Asaumi, Makoto, Kou, Ikuyo, Shuldiner, Alan R., Rodriguez-Flores, Juan L., Rasheed, Asif, Jahanzaib, Muhammad, Mian, Muhammad Rehan, Liaqat, Muhammad Bilal, Raza, Syed Shahzaib, Sultana, Riffat, Jalal, Anjum, Saeed, Muhammad Hamid, Abbas, Shahid, Memon, Fazal Rehman, Ishaq, Mohammad, Dominy, John E., Saleheen, Danish

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SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome von Wang, Qing, Shen, Jiaxiang, Splawski, Igor, Atkinson, Donald, Li, Zhizhong, Robinson, Jennifer L, Moss, Arthur J, Towbin, Jeffrey A, Keating, Mark T

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Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome : ECG findings identify genotypes von LI ZHANG, TIMOTHY, Katherine W, YANOWITZ, Frank, BENHORIN, Jesaia, MOSS, Arthur J, SCHWARTZ, Peter J, ROBINSON, Jennifer L, QING WANG, ZAREBA, Wojciech, KEATING, Mark T, TOWBIN, Jeffrey A, NAPOLITANO, Carlo, VINCENT, G. Michael, MEDINA, Aharon, LEHMANN, Michael H, FOX, Jolene, GIULI, Lisa C, JIAXIANG SHEN, SPLAWSKI, Igor, PRIORI, Silvia G, COMPTON, Steven J

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Genomic structure of three long QT syndrome genes : KVLQT1, HERG, and KCNE1 von SPLAWSKI, I, JIAXIANG SHEN, TIMOTHY, K. W, VINCENT, G. M, LEHMANN, M. H, KEATING, M. T

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Molecular Basis of the Long-QT Syndrome Associated with Deafness von Splawski, Igor, Timothy, Katherine W, Vincent, G. Michael, Atkinson, Donald L, Keating, Mark T

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Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome von Decher, Niels, Renigunta, Vijay, Zuzarte, Marylou, Soom, Malle, Heinemann, Stefan H, Timothy, Katherine W, Keating, Mark T, Daut, Jürgen, Sanguinetti, Michael C, Splawski, Igor

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