检索结果 - M. Troncoso
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Position of Experts Regarding Follow-Up of Patients with Neuronal Ceroid Lipofuscinosis-2 Disease in Latin America 由 Norberto Guelbert, Nora Atanacio, Inés María Denzler, Emília Katiane Embiruçu, Nury Mancilla, Ricardo Andrés Naranjo Flórez, André Luiz Santos Pessoa, Norma Spécola, Lina Marcela Tavera-Saldaña, M. Troncoso, Diane Vergara
出版 2020Artigo -
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Anthocyanins in Blueberries Grown in Hot Climate Exert Strong Antioxidant Activity and May Be Effective against Urinary Tract Bacteria 由 Ana B. Cerezo, Giorgiana M. Cătunescu, Mercedes Martínez-Pais González, Ruth Hornedo‐Ortega, Carmen Rodica Pop, Crina Claudia Rusu, F. Chirilă, Ancuţa M. Rotar, M. Carmen García-Parrilla, Ana M. Troncoso
出版 2020Artigo -
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Hydroxytyrosol Decreases LPS- and α-Synuclein-Induced Microglial Activation In Vitro 由 Marta Gallardo-Fernández, Ruth Hornedo‐Ortega, Isabel M. Alonso-Bellido, José A. Rodríguez‐Gómez, Ana M. Troncoso, M. Carmen García-Parrilla, José L. Venero, Ana M. Espinosa‐Oliva, Rocío M. de Pablos
出版 2019Artigo -
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Neuronal ceroid lipofuscinosis type CLN2: A new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America 由 Romina Kohan, María Noelia Carabelos, Winnie Xin, Katherine B. Sims, Norberto Guelbert, Inés Adriana Cismondi, Patricia Pons, Graciela Alonso, M. Troncoso, Scarlet Witting, David A. Pearce, Raquel Dodelson de Kremer, Ana María Oller-Ramírez, Inés Noher de Halac
出版 2012Artigo -
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Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-Phenotype Correlation 由 Diana Rodriguez, Fernande Gauthier, Enrico Bertini, Marianna Bugiani, Michael Brenner, Sylvie Nguyen, Cyril Goizet, A. Gélot, Robert Surtees, Jean‐Michel Pédespan, X. Hernandoréna, M. Troncoso, G. Uziel, Albee Messing, G Ponsot, Danielle Pham-Dinh, André Dautigny, Odile Boespflug‐Tanguy
出版 2001Artigo -
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Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world 由 Charles Marques Lourenço, André Luiz Santos Pessoa, Carmen Curiati Mendes, Carolina Rivera‐Nieto, Diane Vergara, M. Troncoso, Emily Gardner, Francisca Mallorens, Lina Marcela Tavera, Luis Arturo Lizcano, Nora Atanacio, Norberto Guelbert, Norma Spécola, Nury Mancilla, Carolina Fischinger Moura de Souza, Sara Mole
出版 2020Artigo -
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Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency 由 Stefan Kölker, Sven F. Garbade, Cheryl R. Greenberg, James V. Leonard, Jean-Marie Saudubray, Antònia Ribes, H. Serap Kalkanoğlu, Allan M. Lund, B. Merinero, Moacır Wajner, M. Troncoso, Monique Williams, John H. Walter, Jaume Campistol, Milagros MartÍ-Herrero, Melissa Caswill, Alberto Burlina, Florian B. Lagler, Esther M. Maier, Bernd Schwahn, Ayşegül Tokatlı, Ali Dursun, Turgay Coşkun, R. A. Chalmers, David M. Koeller, Johannes Zschocke, Ernst Christensen, Peter Burgard, Georg F. Hoffmann
出版 2006Artigo -
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Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings 由 Anderson Rodrigues Brandão de Paiva, André Luiz Santos Pessoa, Paulo Ribeiro Nóbrega, Cristiane Araújo Martins Moreno, David S. Lynch, Lucas Mitsuo Taniguti, João Paulo Kitajima, Fernando Freua, Bruno Della‐Ripa, Paulina Cunha, Isabella Peixoto de Barcelos, Lúcia Inês Macedo‐Souza, Carlos Augusto Takeuchi, Antônio Milton Silva Garcia, Flávia Nardes, Ramiro Fontão, Sérgio Antônio Antoniuk, M. Troncoso, Norma Spécola, Consuelo Durand, Bianca de Aguiar Coelho Silva Madeiro, Maria Juliana Rodovalho Doriqui, Diane Vergara, Henry Houlden, Fernando Kok
出版 2023Carta -
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The phenotypic spectrum of <i>SCN8A</i> encephalopathy 由 Jan Larsen, Gemma L. Carvill, Elena Gardella, Gerhard Kluger, G. Schmiedel, Nina Barišić, Christel Depienne, Eva H. Brilstra, Yuan Mang, Jens Erik Nielsen, Martin Kirkpatrick, David Goudie, Rebecca Goldman, Johanna Jähn, Birgit Jepsen, Deepak Gill, Miriam Döcker, Saskia Biskup, Jacinta M. McMahon, Bobby P.C. Koeleman, M. L. Harris, Kees P. J. Braun, Carolien G. F. de Kovel, Carla Marini, Nicola Specchio, Tania Djémié, Sarah Weckhuysen, Niels Tommerup, M. Troncoso, L. Troncoso, Andrea Bevot, Markus Wolff, Helle Hjalgrim, Renzo Guerrini, Ingrid E. Scheffer, Heather C. Mefford, Rikke S. Møller, Aarno Palotie, Anna-Elina Lehesjoki, Arvid Suls, Bobby P.C. Koeleman, Carla Marini, Christel Depienne, Dana Craiu, Deb K. Pal, Dorota Hoffman‐Zacharska, Eric Leguern, Federico Zara, Felix Rosenow, Hande Çağlayan, Helle Hjalgrim, Hiltrud Muhle, Holger Lerche, Ingo Helbig, Johanna Jähn, Johannes R. Lemke, José M. Serratosa, Kaja Kristine Selmer, Karl Martin Klein, Katalin Štěrbová, Nina Barišić, Padhraig Gormley, Pasquale Striano, Patrick May, Peter De Jonghe, Renzo Guerrini, Rikke S. Møller, Roland Krause, Rudi Balling, Sanjay M. Sisodiya, Sarah von Spiczak, Sarah Weckhuysen, Stéphanie Baulac, Tiina Talvik, Ulrich Stephani, Vladimı́r Komárek, Yvonne G. Weber
出版 2015Artigo -
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Monogenic variants in dystonia: an exome-wide sequencing study 由 Michael Zech, Robert Jech, Sylvia Boesch, Matěj Škorvánek, Sandrina Weber, Matias Wagner, Chen Zhao, Angela Jochim, Ján Necpál, Yasemin Dincer, Katharina Vill, Felix Distelmaier, Malgorzata Stoklosa, Martin Krenn, Stephan Grunwald, Tobias Bock-Bierbaum, Anna Fečíková, Petra Havránková, Jan Roth, Iva Příhodová, Miriam Adamovičová, Olga Ulmanová, Karel Bechyně, Pavlína Danhofer, Branislav Veselý, Vladimír Haň, Petra Pavelekova, Zuzana Gdovinová, Tobias Mantel, Tobias Meindl, Alexandra Sitzberger, Sebastian Schröder, Astrid Blaschek, Timo Roser, Michaela Bonfert, Edda Haberlandt, Barbara Plecko, Birgit Leineweber, Steffen Berweck, T. Herberhold, Berthold Langguth, Jana Švantnerová, Michal Minár, Gonzalo Alonso Ramos-Rivera, Monica H. Wojcik, Sander Pajusalu, Katrin Õunap, Ulrich A. Schatz, Laura Pölsler, Ivan Milenković, Franco Laccone, Veronika Pilshofer, Roberto Colombo, Steffi Patzer, Arcangela Iuso, Julia Vera, M. Troncoso, Fang Fang, Holger Prokisch, Friederike Wilbert, Matthias Eckenweiler, Elisabeth Graf, Dominik S. Westphal, Korbinian M. Riedhammer, Theresa Brunet, Bader Alhaddad, Riccardo Berutti, Tim M. Strom, Martin Hecht, Matthias Baumann, Marc E. Wolf, Aida Telegrafi, Richard Person, Francisca Millan Zamora, Lindsay B. Henderson, David Weise, Thomas Musacchio, Jens Volkmann, Anna Szuto, Jessica Becker, Kirsten Cremer, Thomas Sycha, Fritz Zimprich, Verena Kraus, Christine Makowski, Pedro Gonzalez‐Alegre, Tanya Bardakjian, Laurie J. Ozelius, Annalisa Vetro, Renzo Guerrini, Esther M. Maier, Ingo Borggraefe, Alice Kuster, Saskia B. Wortmann, Annette Hackenberg, Robert Steinfeld, Birgit Assmann, Christian Staufner, Thomas Opladen, Evžen Růžička
出版 2020Artigo
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