Síndrome de West criptogénico: perfil clínico, respuesta al tratamiento y factores pronósticos

by María Calderón Romero, Elena Arce Portillo, Mercedes López Lobato, Beatriz Muñoz Cabello, Bárbara Blanco Martínez, Marcos Madruga Garrido, Olga Alonso Luego
Published 2018-09-01

Cryptogenic West syndrome: Clinical profile, response to treatment and prognostic factors

by María Calderón Romero, Elena Arce Portillo, Mercedes López Lobato, Beatriz Muñoz Cabello, Bárbara Blanco Martínez, Marcos Madruga Garrido, Olga Alonso Luego
Published 2018-09-01

NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay

by Fabiola Mavillard, Marcos Madruga‐Garrido, Eloy Rivas, Emilia Servián‐Morilla, Rainiero Ávila‐Polo, Irene Marcos, Francisco J. Morón, Carmen Paradas, Macarena Cabrera‐Serrano
Published 2019-11-01

Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency

by Cristina Domínguez-González, Marcos Madruga-Garrido, Michio Hirano, Itxaso Martí, Miguel A. Martín, Francina Munell, Andrés Nascimento, Montse Olivé, Joanne Quan, M. Dolores Sardina, Ramon Martí, Carmen Paradas
Published 2021-10-01

Vanishing White Matter Disease in a Spanish Population

by Eulàlia Turón-Viñas, Mercè Pineda, Victòria Cusí, Eduardo López-Laso, Rebeca Losada del Pozo, Luis González Gutiérrez-Solana, David Conejo Moreno, Concha Sierra-Córcoles, Naiara Olabarrieta-Hoyos, Marcos Madruga-Garrido, Javier Aguirre-Rodríguez, Verónica González-Álvarez, Mar O’Callaghan, Jordi Muchart, Judith Armstrong-Moron
Published 2014-07-01

Vanishing White Matter Disease in a Spanish Population

by Eulàlia Turón-Viñas, Mercè Pineda, Victòria Cusí, Eduardo López-Laso, Rebeca Losada Del Pozo, Luis González Gutiérrez-Solana, David Conejo Moreno, Concha Sierra-Córcoles, Naiara Olabarrieta-Hoyos, Marcos Madruga-Garrido, Javier Aguirre-Rodríguez, Verónica González-Álvarez, Mar O'callaghan, Jordi Muchart, Judith Armstrong-Moron
Published 2014-01-01

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

by Lidia Gonzalez-Quereda, Maria Jose Rodriguez, Jordi Diaz-Manera, Jorge Alonso-Perez, Eduard Gallardo, Andres Nascimento, Carlos Ortez, Daniel Natera-de Benito, Montse Olive, Laura Gonzalez-Mera, Adolfo Lopez de Munain, Miren Zulaica, Juan Jose Poza, Ivonne Jerico, Laura Torne, Pau Riera, Jose Milisenda, Aurora Sanchez, Gloria Garrabou, Isabel Llano, Marcos Madruga-Garrido, Pia Gallano
Published 2020-05-01

Yale Global Tic Severity Scale (YGTSS): Psychometric Quality of the Gold Standard for Tic Assessment Based on the Large-Scale EMTICS Study

by Martina Haas, Ewgeni Jakubovski, Carolin Fremer, Andrea Dietrich, Pieter J. Hoekstra, Burkard Jäger, Kirsten R. Müller-Vahl, The EMTICS Collaborative Group, Alan Apter, Valentina Baglioni, Juliane Ball, Noa Benaroya-Milshtein, Benjamin Bodmer, Emese Bognar, Bianka Burger, Judith Buse, Francesco Cardona, Marta Correa Vela, Nanette M. Debes, Andrea Dietrich, Maria Cristina Ferro, Carolin Fremer, Blanca Garcia-Delgar, Mariangela Gulisano, Annelieke Hagen, Julie Hagstrøm, Tammy J. Hedderly, Isobel Heyman, Pieter J. Hoekstra, Chaim Huyser, Marcos Madruga-Garrido, Anna Marotta, Davide Martino, Pablo Mir, Astrid Morer, Norbert Müller, Kirsten R. Müller-Vahl, Alexander Münchau, Peter Nagy, Valeria Neri, Thaïra J.C. Openneer, Alessandra Pellico, Ángela Periañez Vasco, Kerstin J. Plessen, Cesare Porcelli, Marina Redondo, Renata Rizzo, Veit Roessner, Daphna Ruhrman, Jaana M.L. Schnell, Anette Schrag, Paola Rosaria Silvestri, Liselotte Skov, Tamar Steinberg, Friederike Tagwerker Gloor, Zsanett Tarnok, Jennifer Tübing, Victoria L. Turner, Susanne Walitza, Elif Weidinger
Published 2021-02-01

Assessment of comorbidity and social anxiety in adolescents with attention deficit hyperactivity disorder: The SELFIE study

by María Jesús Mardomingo Sanz, Carlos Sancho Mateo, Begoña Soler López, Patricia Alcindor Huelva, Luis Artiles Pérez, Joan Bastardas Sardan, Oscar Blanco Barca, Cristina Casal Pena, José Casas Rivero, Rafael de Burgos Marín, Teresa de Santos Moreno, Oscar Durán Forteza, Alberto Fernández Jaén, Ingrid Filippidis Semino, David Fraguas Herráez, Fidel J. García Sánchez, Jorge Miguel García Téllez, José Antonio Gómez Sánchez, Balma Gómez Vicente, Montserrat Hernández Martínez, Abigail Huertas Patón, María Luisa Joga Elvira, Francisco José Lara Cabeza, María Jesús Luna Ibáñez, Marcos Madruga Garrido, Ignacio Málaga Dieguez, Claudia Matos Spohring, Sacramento Mayoral Moyano, José A. Mazaira Castro, Ricardo Alberto Migliorelli Toppi, Leonor Montoliu Tamarit, José Juan Muro Romero, Enrique Ortega García, Carmen Ortiz de Zárate Aguirresarube, Tamara Pablos Sánchez, Alfonso Pavón Puey, Beatriz Payá Gonzaléz, José Carlos Peláez, Iván Pérez Eguiagaray, Benjamín Piñeiro Dieguez, Eloy Rodríguez Arrebola, Andrés Rodríguez Sacristán Cascajo, Helena Romero Escobar, Javier Royo Moya, María José Ruiz Lozano, María Angustias Salmerón Ruiz, Carmen Sánchez García del Castillo, Joaquín María Sole Montserrat, Rosario Vacas Moreira, Magdalena Valverde Gómez
Published 2019-06-01

Evaluación de la comorbilidad y la ansiedad social en adolescentes con trastorno por déficit de atención con hiperactividad: Estudio SELFIE

by María Jesús Mardomingo Sanz, Carlos Sancho Mateo, Begoña Soler López, Patricia Alcindor Huelva, Luis Artiles Pérez, Joan Bastardas Sardan, Oscar Blanco Barca, Cristina Casal Pena, José Casas Rivero, Rafael de Burgos Marín, Teresa de Santos Moreno, Oscar Durán Forteza, Alberto Fernández Jaén, Ingrid Filippidis Semino, David Fraguas Herráez, Fidel J. García Sánchez, Jorge Miguel García Téllez, José Antonio Gómez Sánchez, Balma Gómez Vicente, Montserrat Hernández Martínez, Abigail Huertas Patón, María Luisa Joga Elvira, Francisco José Lara Cabeza, María Jesús Luna Ibáñez, Marcos Madruga Garrido, Ignacio Málaga Dieguez, Claudia Matos Spohring, Sacramento Mayoral Moyano, José A. Mazaira Castro, Ricardo Alberto Migliorelli Toppi, Leonor Montoliu Tamarit, José Juan Muro Romero, Enrique Ortega García, Carmen Ortiz de Zárate Aguirresarube, Tamara Pablos Sánchez, Alfonso Pavón Puey, Beatriz Payá Gonzaléz, José Carlos Peláez, Iván Pérez Eguiagaray, Benjamín Piñeiro Dieguez, Eloy Rodríguez Arrebola, Andrés Rodríguez Sacristán Cascajo, Helena Romero Escobar, Javier Royo Moya, María José Ruiz Lozano, María Angustias Salmerón Ruiz, Carmen Sánchez García del Castillo, Joaquín María Sole Montserrat, Rosario Vacas Moreira, Magdalena Valverde Gómez.
Published 2019-06-01

Synaptic processes and immune-related pathways implicated in Tourette syndrome

by Fotis Tsetsos, Dongmei Yu, Jae Hoon Sul, Alden Y. Huang, Cornelia Illmann, Lisa Osiecki, Sabrina M. Darrow, Matthew E. Hirschtritt, Erica Greenberg, Kirsten R. Muller-Vahl, Manfred Stuhrmann, Yves Dion, Guy A. Rouleau, Harald Aschauer, Mara Stamenkovic, Monika Schlögelhofer, Paul Sandor, Cathy L. Barr, Marco A. Grados, Harvey S. Singer, Markus M. Nöthen, Johannes Hebebrand, Anke Hinney, Robert A. King, Thomas V. Fernandez, Csaba Barta, Zsanett Tarnok, Peter Nagy, Christel Depienne, Yulia Worbe, Andreas Hartmann, Cathy L. Budman, Renata Rizzo, Gholson J. Lyon, William M. McMahon, James R. Batterson, Danielle C. Cath, Irene A. Malaty, Michael S. Okun, Cheston Berlin, Douglas W. Woods, Paul C. Lee, Joseph Jankovic, Mary M. Robertson, Donald L. Gilbert, Lawrence W. Brown, Barbara J. Coffey, Andrea Dietrich, Pieter J. Hoekstra, Samuel Kuperman, Samuel H. Zinner, Michael Wagner, James A. Knowles, A. Jeremy Willsey, Jay A. Tischfield, Gary A. Heiman, Nancy J. Cox, Nelson B. Freimer, Benjamin M. Neale, Lea K. Davis, Giovanni Coppola, Carol A. Mathews, Jeremiah M. Scharf, Peristera Paschou, on behalf of the Tourette Association of America International Consortium for Genetics, Cathy L. Barr, James R. Batterson, Cheston Berlin, Cathy L. Budman, Danielle C. Cath, Giovanni Coppola, Nancy J. Cox, Sabrina Darrow, Lea K. Davis, Yves Dion, Nelson B. Freimer, Marco A. Grados, Erica Greenberg, Matthew E. Hirschtritt, Alden Y. Huang, Cornelia Illmann, Robert A. King, Roger Kurlan, James F. Leckman, Gholson J. Lyon, Irene A. Malaty, Carol A. Mathews, William M. McMahon, Benjamin M. Neale, Michael S. Okun, Lisa Osiecki, Mary M. Robertson, Guy A. Rouleau, Paul Sandor, Jeremiah M. Scharf, Harvey S. Singer, Jan H. Smit, Jae Hoon Sul, Dongmei Yu, the Gilles de la Tourette GWAS Replication Initiative, Harald Aschauer Harald Aschauer, Csaba Barta, Cathy L. Budman, Danielle C. Cath, Christel Depienne, Andreas Hartmann, Johannes Hebebrand, Anastasios Konstantinidis, Carol A. Mathews, Kirsten Müller-Vahl, Peter Nagy, Markus M. Nöthen, Peristera Paschou, Renata Rizzo, Guy A. Rouleau, Paul Sandor, Jeremiah M. Scharf, Monika Schlögelhofer, Mara Stamenkovic, Manfred Stuhrmann, Fotis Tsetsos, Zsanett Tarnok, Tomasz Wolanczyk, Yulia Worbe, the Tourette International Collaborative Genetics Study, Lawrence Brown, Keun-Ah Cheon, Barbara J. Coffey, Andrea Dietrich, Thomas V. Fernandez, Blanca Garcia-Delgar, Donald Gilbert, Dorothy E. Grice, Julie Hagstrøm, Tammy Hedderly, Gary A. Heiman, Isobel Heyman, Pieter J. Hoekstra, Chaim Huyser, Young Key Kim, Young-Shin Kim, Robert A. King, Yun-Joo Koh, Sodahm Kook, Samuel Kuperman, Bennett L. Leventhal, Marcos Madruga-Garrido, Pablo Mir, Astrid Morer, Alexander Münchau, Kerstin J. Plessen, Veit Roessner, Eun-Young Shin, Dong-Ho Song, Jungeun Song, Jay A. Tischfield, A. Jeremy Willsey, Samuel Zinner, and the Psychiatric Genomics Consortium Tourette Syndrome Working Group, Harald Aschauer, Cathy L. Barr, Csaba Barta, James R. Batterson, Cheston Berlin, Lawrence Brown, Cathy L. Budman, Danielle C. Cath, Barbara J. Coffey, Giovanni Coppola, Nancy J. Cox, Sabrina Darrow, Lea K. Davis, Christel Depienne, Andrea Dietrich, Yves Dion, Thomas Fernandez, Nelson B. Freimer, Donald Gilbert, Marco A. Grados, Erica Greenberg, Andreas Hartmann, Johannes Hebebrand, Gary Heiman, Matthew E. Hirschtritt, Pieter Hoekstra, Alden Y. Huang, Cornelia Illmann, Joseph Jankovic, Robert A. King, Samuel Kuperman, Paul C. Lee, Gholson J. Lyon, Irene A. Malaty, Carol A. Mathews, William M. McMahon, Kirsten Müller-Vahl, Peter Nagy, Benjamin M. Neale, Markus M. Nöthen, Michael S. Okun, Lisa Osiecki, Peristera Paschou, Renata Rizzo, Mary M. Robertson, Guy A. Rouleau, Paul Sandor, Jeremiah M. Scharf, Monika Schlögelhofer, Harvey S. Singer, Mara Stamenkovic, Manfred Stuhrmann, Jae Hoon Sul, Zsanett Tarnok, Jay Tischfield, Fotis Tsetsos, A. Jeremy Willsey, Douglas Woods, Yulia Worbe, Dongmei Yu, Samuel Zinner
Published 2021-01-01