日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias

ATP1A3 变异、变异性短 QT 间期和致命性室性心律失常

Moya-Mendez, Mary E; Bidzimou, Minu-Tshyeto; Muralidharan, Padmapriya; Zhang, Zhushan; Ezekian, Jordan E; Perelli, Robin M; Parker, Lauren E; Prange, Lyndsey; Boggs, April; Kim, Jeffrey J; Howard, Taylor S; Word, Tarah A; Wehrens, Xander H T; Reyes Valenzuela, Gabriela; Caraballo, Roberto; Garone, Giacomo; Vigevano, Federico; Weckhuysen, Sarah; Millevert, Charissa; Troncoso, Monica; Matamala, Mario; Balestrini, Simona; Sisodiya, Sanjay M; Poole, Josephine; Zucca, Claudio; Panagiotakaki, Eleni; Papadopoulou, Maria T; Tchaicha, Sébile; Zawadzka, Marta; Mazurkiewicz-Beldzinska, Maria; Fons, Carmen; Anticona, Jennifer; De Grandis, Elisa; Cordani, Ramona; Pisciotta, Livia; Groppa, Sergiu; Paryjas, Sandra; Ragona, Francesca; Mangia, Elena; Granata, Tiziana; Megvinov, Andrey; Pavlicek, Mirjana; Ess, Kevin; Simmons, Christine Q; George, Alfred L Jr; Vavassori, Rosaria; Mikati, Mohamad A; Landstrom, Andrew P

The protean presentations of XK disease (McLeod syndrome): a case series with new observations and updates on previously reported families

XK病(麦克劳德综合征)的多种临床表现:病例系列研究,包括新的观察结果和先前报道的家族的最新进展

Walker, Ruth H; Barreto, Mariana; Bateman, James R; Bustamante, M Leonor; Chiu, Graham; Feitell, Scott; Frey, Beat M; Guerra, Patricio; Guerrero, Sofia; Jung, Hans H; Maldonado, Fernando; Meyer, Eduardo; Miranda, Marcelo; McFarland, Emelie; Oates, Patricia; Ochoa, Gorka; Olsson, Karin; Paucar, Martin; Proschle, Jonatan Alvarez; Sammler, Esther M; Troncoso, Monica; Wu-Wallace, Rachel; Young, Leo; Vege, Sunitha; Westhoff, Connie M; Danek, Adrian

Children and Adolescent Patients with Variants in the ATP1A3 -encoded Sodium-Potassium ATPase Alpha-3 Subunit Demonstrate an Impaired QT Response to Bradycardia and Predisposition to Sinus Node Dysfunction

ATP1A3编码的钠钾ATP酶α-3亚基变异的儿童和青少年患者表现出对心动过缓的QT间期反应受损和窦房结功能障碍的易感性

Srour, Meredith K; Bidzimou, Minu-Tshyeto K; Muralidharan, Padmapriya; Mitchell, Saige M; Moya-Mendez, Mary E; Parker, Lauren E; Valenzuela, Gabriela Reyes; Caraballo, Roberto; Garone, Giacomo; Vigevano, Federico; Weckhuysen, Sarah; Millevert, Charissa; Troncoso, Monica; Matamala, Mario; Balestrini, Simona; Sisodiya, Sanjay M; Poole, Josephine; Zucca, Claudio; Panagiotakaki, Eleni; Papadopoulou, Maria T; Tchaicha, Sébile; Terzi, Matthildi Athina Papathanasiou; Zawadzka, Marta; Mazurkiewicz-Bełdzińska, Maria; Fons, Carmen; Anticona, Jennifer; De Grandis, Elisa; Cordani, Ramona; Pisciotta, Livia; Groppa, Sergiu; Paryjas, Sandra; Ragona, Francesca; Mangia, Elena; Granata, Tiziana; Megvinov, Andrey; Vavassori, Rosaria; Mikati, Mohamad A; Landstrom, Andrew P

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

复发性深内含子假外显子诱导变异 COL6A1 c.930+189C>T 导致 COL6 相关营养不良症的持续严重表型:朝着剪接调节疗法的临床试验准备迈进

Foley A Reghan, Bolduc Véronique, Guirguis Fady, Donkervoort Sandra, Hu Ying, Orbach Rotem, McCarty Riley M, Sarathy Apurva, Norato Gina, Cummings Beryl B, Lek Monkol, Sarkozy Anna, Butterfield Russell J, Kirschner Janbernd, Nascimento Andrés, Benito Daniel Natera-de, Quijano-Roy Susana, Stojkovic Tanya, Merlini Luciano, Comi Giacomo, Ryan Monique, McDonald Denise, Munot Pinki, Yoon Grace, Leung Edward, Finanger Erika, Leach Meganne E, Collins James, Tian Cuixia, Mohassel Payam, Neuhaus Sarah B, Saade Dimah, Cocanougher Benjamin T, Chu Mary-Lynn, Scavina Mena, Grosmann Carla, Richardson Randal, Kossak Brian D, Gospe Sidney M Jr, Bhise Vikram, Taurina Gita, Lace Baiba, Troncoso Monica, Shohat Mordechai, Shalata Adel, Chan Sophelia H S, Jokela Manu, Palmio Johanna, Haliloğlu Göknur, Jou Cristina, Gartioux Corine, Solomon-Degefa Herimela, Freiburg Carolin D, Schiavinato Alvise, Zhou Haiyan, Aguti Sara, Nevo Yoram, Nishino Ichizo, Jimenez-Mallebrera Cecilia, Lamandé Shireen R, Allamand Valérie, Gualandi Francesca, Ferlini Alessandra, MacArthur Daniel G, Wilton Steve D, Wagener Raimund, Bertini Enrico, Muntoni Francesco, Bönnemann Carsten G

Monogenic variants in dystonia: an exome-wide sequencing study

肌张力障碍的单基因变异:一项全外显子组测序研究

Zech, Michael; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpál, Ján; Dincer, Yasemin; Vill, Katharina; Distelmaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fečíková, Anna; Havránková, Petra; Roth, Jan; Příhodová, Iva; Adamovičová, Miriam; Ulmanová, Olga; Bechyně, Karel; Danhofer, Pavlína; Veselý, Branislav; Haň, Vladimír; Pavelekova, Petra; Gdovinová, Zuzana; Mantel, Tobias; Meindl, Tobias; Sitzberger, Alexandra; Schröder, Sebastian; Blaschek, Astrid; Roser, Timo; Bonfert, Michaela V; Haberlandt, Edda; Plecko, Barbara; Leineweber, Birgit; Berweck, Steffen; Herberhold, Thomas; Langguth, Berthold; Švantnerová, Jana; Minár, Michal; Ramos-Rivera, Gonzalo Alonso; Wojcik, Monica H; Pajusalu, Sander; Õunap, Katrin; Schatz, Ulrich A; Pölsler, Laura; Milenkovic, Ivan; Laccone, Franco; Pilshofer, Veronika; Colombo, Roberto; Patzer, Steffi; Iuso, Arcangela; Vera, Julia; Troncoso, Monica; Fang, Fang; Prokisch, Holger; Wilbert, Friederike; Eckenweiler, Matthias; Graf, Elisabeth; Westphal, Dominik S; Riedhammer, Korbinian M; Brunet, Theresa; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M; Hecht, Martin; Baumann, Matthias; Wolf, Marc; Telegrafi, Aida; Person, Richard E; Zamora, Francisca Millan; Henderson, Lindsay B; Weise, David; Musacchio, Thomas; Volkmann, Jens; Szuto, Anna; Becker, Jessica; Cremer, Kirsten; Sycha, Thomas; Zimprich, Fritz; Kraus, Verena; Makowski, Christine; Gonzalez-Alegre, Pedro; Bardakjian, Tanya M; Ozelius, Laurie J; Vetro, Annalisa; Guerrini, Renzo; Maier, Esther; Borggraefe, Ingo; Kuster, Alice; Wortmann, Saskia B; Hackenberg, Annette; Steinfeld, Robert; Assmann, Birgit; Staufner, Christian; Opladen, Thomas; Růžička, Evžen; Cohn, Ronald D; Dyment, David; Chung, Wendy K; Engels, Hartmut; Ceballos-Baumann, Andres; Ploski, Rafal; Daumke, Oliver; Haslinger, Bernhard; Mall, Volker; Oexle, Konrad; Winkelmann, Juliane

The phenotypic spectrum of SCN8A encephalopathy

SCN8A脑病的表型谱

Larsen, Jan; Carvill, Gemma L; Gardella, Elena; Kluger, Gerhard; Schmiedel, Gudrun; Barisic, Nina; Depienne, Christel; Brilstra, Eva; Mang, Yuan; Nielsen, Jens Erik Klint; Kirkpatrick, Martin; Goudie, David; Goldman, Rebecca; Jähn, Johanna A; Jepsen, Birgit; Gill, Deepak; Döcker, Miriam; Biskup, Saskia; McMahon, Jacinta M; Koeleman, Bobby; Harris, Mandy; Braun, Kees; de Kovel, Carolien G F; Marini, Carla; Specchio, Nicola; Djémié, Tania; Weckhuysen, Sarah; Tommerup, Niels; Troncoso, Monica; Troncoso, Ledia; Bevot, Andrea; Wolff, Markus; Hjalgrim, Helle; Guerrini, Renzo; Scheffer, Ingrid E; Mefford, Heather C; Møller, Rikke S