Monogenic variants in dystonia: an exome-wide sequencing study

Autor: 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 ^*

Publikováno v: In The Lancet Neurology November 2020 19(11):908-918

Dyslipidemia in Children With Arterial Ischemic Stroke: Prevalence and Risk Factors

Autor: Bernard, Tim, Dowling, Michael, Hernandez, Marta, Rivkin, Michael, Kopyta, Ilona, Ichord, Rebecca, Benedict, Susan, Mackay, Mark, Kirton, Adam, Zafeiriou, Dimitrios, Troncoso, Monica, Yager, Jerome, Abraham, Lisa, Lo, Warren, Gonzalez, Veronica, Saengpattrachai, Montri, Chan, Anthony, Abdallah, Abdallah, Brankovic-Sreckovic, Vesna, Kolk, Anneli, Carpenter, Jessica, Kovacevic, Gordana, Amlie-Lefond, Catherine, Steinlin, Maja, Paolicchi, Juliann, Carell, Monroe, Jr, Bjornson, Bruce, Kosofsky, Barry, Wong, Virginia, Pergami, Paola, Friedman, Neil, Guang, Yang, Humphreys, Peter, Nowak-Göttl, Ulrike, Ferriero, Donna, Xavier, Frederico, Fryer, Robert, Andrade Alveal, Lucila, Altuna, Diana, Felling, Ryan, Pavlakis, Steven, Grabowski, Eric, Golomb, Meredith, Noetzel, Michael, Khoury, Chaouki, Lerner, Norma, Blair, Amanda, Rafay, Mubeen, Sultan, Sally ^*, DeVeber, Gabrielle, Linds, Alexandra, Elkind, Mitchell S.V.

Publikováno v: In Pediatric Neurology January 2018 78:46-54

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Exploring the Spectrum of RHOBTB2 Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review.

Autor: de Pedro Baena, Sonia, Sariego Jamardo, Andrea, Castro, Pedro, López González, Francisco Javier, Sánchez Carpintero, Rocío, Cerisola, Alfredo, Troncoso, Mónica, Witting, Scarlet, Barrios, Andrés, Fons, Carmen, López Pisón, Javier, Ortigoza‐Escobar, Juan Darío

Publikováno v: Movement Disorders Clinical Practice; Nov2023, Vol. 10 Issue 11, p1671-1679, 9p

Hypomyelination and Congenital Cataract: Identification of a Novel likely pathogenic c.414+1G>A in FAM126A gene Variant.

Autor: Troncoso, Mónica¹ (AUTHOR), Balut, Fernanda¹ (AUTHOR) febalut@uchile.cl, Witting, Scarlet¹ (AUTHOR), Rubilar, Carla¹ (AUTHOR), Carrera, Jorge² (AUTHOR), Cartes, Fabiola³ (AUTHOR), Herrera, Luisa³ (AUTHOR)

Publikováno v: Clinical Case Reports. May2021, Vol. 9 Issue 5, p1-5. 5p.