Rezultaty - Marcos Madruga

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  1. 1
    Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy

    Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy od A. Nascimento Osorio, Jordi Cantillo, Ana Camacho, Marcos Madruga Garrido, Juan J. Vílchez

    Wydane 2018
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  2. 2
    Esclerose tuberosa: estudo multidisciplinar de 15 casos

    Esclerose tuberosa: estudo multidisciplinar de 15 casos od Elza Márcia Targas Yacubian, L. C. Colarille, T. R. Lauandos, Francisco Baptista Assumpção, Marcelo Marcucci, Thainá Carvalho Ramos, Juan Carlos Navarro Duarte, Marcos Madruga, S. A. Funari, Lucero Monterde Cruz, M. H. Sprovieri

    Wydane 1983
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  3. 3
    Support of the histaminergic hypothesis in Tourette Syndrome: association of the histamine decarboxylase gene in a large sample of families

    Support of the histaminergic hypothesis in Tourette Syndrome: association of the histamine decarboxylase gene in a large sample of families od Iordanis Karagiannidis, Sandra Dehning, Paul Sandor, Zsanett Tárnok, Renata Rizzo, Tomasz Wolańczyk, Marcos Madruga-Garrido, Johannes Hebebrand, Markus M. Nöthen, Gerd Lehmkuhl, Luca Farkas, Péter Nagy, Urszula Szymańska, Zacharias Anastasiou, Vasileios Stathias, Christos Androutsos, Vaia Tsironi, Anastasia Koumoula, Csaba Barta, Peter Zill, Pablo Mir, Norbert Müller, Cathy L. Barr, Peristera Paschou

    Wydane 2013
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  4. 4
    Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

    Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy od Jonàs Juan‐Mateu, Maria José Rodríguez, A. Nascimento, C. Jimenez‐Mallebrera, Lídia González-Quereda, Eloy Rivas, Carmen Paradas, Marcos Madruga, Pedro Sánchez-Ayaso, Cristina Jou, Laura González, Francina Munell, Manuel Roig-Quilis, María Rabasa, Aurelio Hernández‐Laín, Jordi Díaz‐Manera, Eduard Gallardo, J. Pascual, Edgard Verdura, Jaume Colomer, Montserrat Baiget, Montse Olivé, P. Gallano

    Wydane 2012
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  5. 5
    Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

    Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain od Lídia González-Quereda, Maria José Rodríguez, Jordi Díaz‐Manera, Jorge Alonso‐Pérez, Eduard Gallardo, A. Nascimento, C. Ortez, Daniel Natera‐de Benito, Montse Olivé, Laura González, Adolfo López de Munaín, Miren Zulaica, Juan José Poza, Ivonne Jericó, Laura Torné, Pau Riera, José C. Milisenda, Aurora Sánchez, Glòria Garrabou, Isabel Llano‐Rivas, Marcos Madruga‐Garrido, P. Gallano

    Wydane 2020
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  6. 6
    Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy

    Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy od Cristina Domínguez‐González, Marcos Madruga‐Garrido, Fabiola Mavillard, Caterina Garone, Francisco Javier Aguirre‐Rodríguez, Maria Alice Donati, Karin Kleinsteuber, Itxaso Martí, Elena Martín‐Hernández, Juan P. Morealejo‐Aycinena, Francina Munell, A. Nascimento, Susana G. Kalko, M. Dolores Sardina, Concepción Álvarez del Vayo Benito, Olga López Serrano, Yuelin Long, Yuqi Tu, Bruce Lubotsky Levin, John L.P. Thompson, Kristen Engelstad, Jasim Uddin, Javier Torres‐Torronteras, C. Jimenez‐Mallebrera, Ramón Martí, Carmen Paradas, Michio Hirano

    Wydane 2019
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  7. 7
    Retrospective natural history of thymidine kinase 2 deficiency

    Retrospective natural history of thymidine kinase 2 deficiency od Caterina Garone, Robert W. Taylor, A. Nascimento, Joanna Poulton, Carl Fratter, Cristina Domínguez‐González, Julie Evans, Mariana Loos, Pirjo Isohanni, Anu Suomalainen, Dipak Ram, M.I. Hughes, Robert McFarland, Emanuele Barca, Carlos Lopez‐Gómez, Sandeep Jayawant, Neil D Thomas, Adnan Y. Manzur, Karin Kleinsteuber, Miguel A. Martı́n, Timothy Kerr, Gráinne S. Gorman, Ewen W. Sommerville, Patrick F. Chinnery, Monika Hofer, Christoph Karch, Jeffrey Ralph, Yolanda Cámara, Marcos Madruga‐Garrido, Jana Domínguez‐Carral, C. Ortez, Sonia Emperador, Julio Montoya, Anupam Chakrapani, Joshua Kriger, Robert Schoenaker, Bruce Lubotsky Levin, John L.P. Thompson, Yuelin Long, Shamima Rahman, Maria Alice Donati, Salvatore DiMauro, Michio Hirano

    Wydane 2018
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  8. 8
    Pre- and perinatal complications in relation to Tourette syndrome and co-occurring obsessive-compulsive disorder and attention-deficit/hyperactivity disorder

    Pre- and perinatal complications in relation to Tourette syndrome and co-occurring obsessive-compulsive disorder and attention-deficit/hyperactivity disorder od Mohamed Abdulkadir, Jay A. Tischfield, Robert A. King, Thomas Fernandez, Lawrence W. Brown, Keun‐Ah Cheon, Barbara J. Coffey, Sebastian F. T. M. de Bruijn, Lonneke Elzerman, Blanca García-Delgar, Donald L. Gilbert, Dorothy E. Grice, Julie Hagstrøm, Tammy Hedderly, Isobel Heyman, Hyun Ju Hong, Chaim Huyser, Laura Ibanez-Gomez, Young Key Kim, Young-Shin Kim, Yun-Joo Koh, Sodahm Kook, Samuel Kuperman, Andreas Lamerz, Bennett Leventhal, Andrea G. Ludolph, Marcos Madruga‐Garrido, Athanasios Maras, Marieke Messchendorp, Pablo Mir, Ástrid Morer, Alexander Münchau, Tara Murphy, Thaïra J. C. Openneer, Kerstin Jessica Plessen, Judith J. G. Rath, Veit Roessner, Odette Fründt, Eun-Young Shin, Deborah Sival, Dong‐Ho Song, Jungeun Song, Anne-Marie Stolte, Jennifer Tübing, Els van den Ban, Frank Visscher, Sina Wanderer, Martin Woods, Samuel H. Zinner, Matthew W. State, Gary A. Heiman, Pieter J. Hoekstra, Andrea Dietrich

    Wydane 2016
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  9. 9
    Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis

    Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis od Thaís Armangué, Marianna Spatola, Alexandru Vlagea, Simone Mattozzi, Marc Cárceles-Cordon, Eloy Martínez‐Heras, Sara Llufriú, Jordi Muchart, María Elena Erro, Laura Abraira, Germán Morís, Luis Monros-Giménez, Íñigo Corral, Carmen Montejo, Manuel Toledo, Luís Bataller, Gabriela Secondi, Helena Ariño, Eugenia Martínez‐Hernández, Manel Juan, María Ángeles Marcos, Laia Alsina, Albert Saiz, Myrna R. Rosenfeld, Francesc Graus, Josep Dalmau, Sergio Aguilera, Alfonso Amado Puentes, Antonio Arjona Padillo, Luisa Arrabal, Izascun Arratibel, Gemma Aznar-Laín, Paula Bellas-Lamas, Teresa de Jesús Bermejo, Sabas Boyero-Durán, Ana Camacho, Andrea Campo, Dulce Campos, Verónica Cantarín Extremera, Cristóbal Carnero Pardo, David Conejo-Moreno, Marta Dapena, David Dacruz-Álvarez, Verónica Delgadillo-Chilavert, Àngela Deyà‐Martínez, Jordi Estela-Herrero, A. de Felipe, Elisa Fernández-Cooke, Joaquín Alejandro Fernández‐Ramos, Clàudia Fortuny, Juan Carlos García‐Moncó, Teresa Gili, Verónica González-Álvarez, Robert Güerri, Sara Guillén, Antonio Hedrera-Fernández, María López, Eduardo López‐Laso, María Lorenzo-Ruiz, Marcos Madruga, Ignacio Málaga, Itxaso Martí, Xavier Martínez-Lacasa, Lucía Martín-Viota, Leticia Martín Gil, María-Jesús Martínez-González, Antía Moreira, María Concepción Miranda-Herrero, L. Monge Galindo, Beatriz Muñoz‐Cabello, Juan Navarro‐Morón, Olaf Neth, Antoni Noguera‐Julián, Noemí Núñez‐Enamorado, Virginia Pomar, Juan C Portillo-Cuenca, M.S. Perez Poyato, Luís Prieto, Luís Querol, Eloy Rodríguez‐Rodríguez, Silvana Sarria‐Estrada, Concepción Sierra, Pere Soler‐Palacín, Víctor Soto-Insuga, Laura Toledo-Bravo, Miguel Tomás Vila, Carmen Torres-Torres, Eulàlia Turón-Viñas, Ana Zabalza

    Wydane 2018
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  10. 10
    Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

    Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome od Pritesh Jain, Tyne W. Miller‐Fleming, Apostolia Topaloudi, Dongmei Yu, Petros Drineas, Marianthi Georgitsi, Zhiyu Yang, Renata Rizzo, Kirsten Müller‐Vahl, Zeynep Tümer, Nanette Mol Debes, Andreas Hartmann, Christel Depienne, Yulia Worbe, Pablo Mir, Daniëlle C. Cath, Dorret I. Boomsma, Veit Roessner, Tomasz Wolańczyk, Piotr Janik, Natalia Szejko, Cezary Żekanowski, Csaba Barta, Zsófia Nemoda, Zsanett Tárnok, Joseph D. Buxbaum, Dorothy E. Grice, Jeffrey Glennon, Hreinn Stefánsson, Bastian Hengerer, Noa Benaroya-Milshtein, Francesco Cardona, Tammy Hedderly, Isobel Heyman, Chaim Huyser, Ástrid Morer, Norbert Mueller, Alexander Münchau, Kerstin Jessica Plessen, Cesare Porcelli, Susanne Walitza, Anette Schrag, Davide Martino, Thomas D. Als, H.N. Aschauer, Gil Atzmon, Matie Bækvad-Hansen, Csaba Barta, Cathy L. Barr, Nir Barzilai, James R. Batterson, Robert Batterson, Fortu Benarroch, Cheston M. Berlin, Julia Boberg, Benjamin Bodmer, Julia Bohnenpoll, Anders D. Børglum, Lawrence W. Brown, Ruth D. Bruun, Cathy L. Budman, Randy L. Buckner, Joseph D. Buxbaum, Jonas Bybjerg‐Grauholm, Daniëlle C. Cath, Keun‐Ah Cheon, Sylvain Chouinard, Barbara Coffey, Giovanni Coppola, James J. Crowley, Niklas Dahl, Lea K. Davis, Sabrina M. Darrow, Mark J. Daly, Christel Depienne, Silvia De Rubeis, Andrea Dietrich, Yves Dion, Diana R. Djurfeldt, Laura Domenech-Salgado, Valsamma Eapen, Lonneke Elzerman, Thomas Fernandez, Nelson B. Freimer Carolin Fremer, Blanca García-Delgar, Marcos Madruga Garrido, Donald L. Gilbert, Paola Giusti‐Rodríguez, Marco A. Grados, Erica Greenberg, Jakob Grove, Dorothy E. Grice, Julie Hagstrøm, Matthew Halvorsen, Andreas Hartmann, Bjarne Hansen, Jan Haavik, Johannes Hebebrand, Gary A. Heiman, Luis Diego Herrera

    Wydane 2023
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  11. 11
    De Novo Coding Variants Are Strongly Associated with Tourette Disorder

    De Novo Coding Variants Are Strongly Associated with Tourette Disorder od A. Jeremy Willsey, Thomas Fernandez, Dongmei Yu, Robert A. King, Andrea Dietrich, Jinchuan Xing, Stephan Sanders, Jeffrey D. Mandell, Alden Y. Huang, Petra Richer, Louw Smith, Shan Dong, Kaitlin E. Samocha, Benjamin M. Neale, Giovanni Coppola, Carol A. Mathews, Jay A. Tischfield, Jeremiah M. Scharf, Matthew W. State, Gary A. Heiman, Mohamed Abdulkadir, Julia Bohnenpoll, Yana Bromberg, Lawrence W. Brown, Keun‐Ah Cheon, Barbara Coffey, Li Deng, Andrea Dietrich, Shan Dong, Lonneke Elzerman, Thomas Fernandez, Odette Fründt, Blanca García-Delgar, Erika Gedvilaite, Donald L. Gilbert, Dorothy E. Grice, Julie Hagstrøm, Tammy Hedderly, Gary A. Heiman, Isobel Heyman, Pieter J. Hoekstra, Hyun Ju Hong, Chaim Huyser, Laura Ibanez-Gomez, Young Key Kim, Young‐Shin Kim, Robert A. King, Yun‐Joo Koh, Sodahm Kook, Samuel Kuperman, Andreas Lamerz, Bennett Leventhal, Andrea G. Ludolph, Claudia Lühr da Silva, Marcos Madruga‐Garrido, Jeffrey D. Mandell, Athanasios Maras, Pablo Mir, Ástrid Morer, Alexander Münchau, Tara Murphy, Cara Nasello, Thaïra J. C. Openneer, Kerstin Jessica Plessen, Petra Richer, Veit Roessner, Stephan Sanders, Eun‐Young Shin, Deborah Sival, Louw Smith, Shan Dong, Jungeun Song, Matthew W. State, Anne Marie Stolte, Nawei Sun, Jay A. Tischfield, Jennifer Tübing, Frank Visscher, Michael F. Walker, Sina Wanderer, Shuoguo Wang, A. Jeremy Willsey, Martin Woods, Jinchuan Xing, Yeting Zhang, Anbo Zhou, Samuel H. Zinner, Cathy L. Barr, James R. Batterson, Cheston M. Berlin, Ruth D. Bruun, Cathy L. Budman, Daniëlle C. Cath, Sylvain Chouinard, Giovanni Coppola, Nancy J. Cox, Sabrina M. Darrow, Lea K. Davis, Yves Dion, Nelson B. Freimer

    Wydane 2017
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