Para-infectious anti-GD2/GD3 IgM myelitis during the Covid-19 pandemic: Case report and literature review
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Published in Multiple sclerosis and related disorders (01.04.2021)
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Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)
Serrano-Lorenzo, Pablo, Rabasa, María, Esteban, Jesús, Hidalgo Mayoral, Irene, Domínguez-González, Cristina, Blanco-Echevarría, Agustín, Garrido-Moraga, Rocío, Lucia, Alejandro, Blázquez, Alberto, Rubio, Juan C, Palma-Milla, Carmen, Arenas, Joaquín, Martín, Miguel A
Published in Genes (11.10.2022)
Published in Genes (11.10.2022)
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Richter transformation driven by Epstein–Barr virus reactivation during therapy‐related immunosuppression in chronic lymphocytic leukaemia
García‐Barchino, Maria J, Sarasquete, Maria E, Panizo, Carlos, Morscio, Julie, Martinez, Antonio, Alcoceba, Miguel, Fresquet, Vicente, Gonzalez‐Farre, Blanca, Paiva, Bruno, Young, Ken H, Robles, Eloy F, Roa, Sergio, Celay, Jon, Larrayoz, Marta, Rossi, Davide, Gaidano, Gianluca, Montes‐Moreno, Santiago, Piris, Miguel A, Balanzategui, Ana, Jimenez, Cristina, Rodriguez, Idoia, Calasanz, Maria J, Larrayoz, Maria J, Segura, Victor, Garcia‐Muñoz, Ricardo, Rabasa, Maria P, Yi, Shuhua, Li, Jianyong, Zhang, Mingzhi, Xu‐Monette, Zijun Y, Puig‐Moron, Noemi, Orfao, Alberto, Böttcher, Sebastian, Hernandez‐Rivas, Jesus M, Miguel, Jesus San, Prosper, Felipe, Tousseyn, Thomas, Sagaert, Xavier, Gonzalez, Marcos, Martinez‐Climent, Jose A
Published in The Journal of pathology (01.05.2018)
Published in The Journal of pathology (01.05.2018)
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Generation of the iPSC line IISHDOi007-A from peripheral blood mononuclear cells from a patient with McArdle disease harbouring the mutation c.2392 T > C; p.Trp798Arg
Cerrada, Victoria, García-López, Marta, Alvarez-Galeano, Sofía, Moreno-Izquierdo, Ana, Lucia, Alejandro, Rabasa Pérez, María, Arenas, Joaquín, Gallardo, M. Esther
Published in Stem cell research (01.12.2020)
Published in Stem cell research (01.12.2020)
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828-P: The Impact of Diabetes and Depression Status on Weight Loss Outcomes in Mexican Patients with Severe Obesity
FLORES, MARCELA RODRIGUEZ, STEPHANO Z., SYLVANA, RABASA, MARÍA, MONTOYA, JUANA, VELEZ, CLAUDIA, GARCIA, EDUARDO
Published in Diabetes (New York, N.Y.) (01.06.2019)
Published in Diabetes (New York, N.Y.) (01.06.2019)
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Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy
Juan-Mateu, Jonàs, Rodríguez, Maria José, Nascimento, Andrés, Jiménez-Mallebrera, Cecilia, González-Quereda, Lidia, Rivas, Eloy, Paradas, Carmen, Madruga, Marcos, Sánchez-Ayaso, Pedro, Jou, Cristina, González-Mera, Laura, Munell, Francina, Roig-Quilis, Manuel, Rabasa, Maria, Hernández-Lain, Aurelio, Díaz-Manera, Jorge, Gallardo, Eduard, Pascual, Jordi, Verdura, Edgard, Colomer, Jaume, Baiget, Montserrat, Olivé, Montse, Gallano, Pia
Published in Orphanet journal of rare diseases (23.10.2012)
Published in Orphanet journal of rare diseases (23.10.2012)
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Seizures and COVID-19: Results from the Spanish Society of Neurology’s COVID-19 registry
Fernández, Santiago Fernández, Pérez Sánchez, Javier Ricardo, Pérez, Guillermo Hernández, Pérez, María Rabasa, Castro, Cristina Guijarro, García-Azorín, David, Ezpeleta, David
Published in Journal of clinical neuroscience (01.07.2022)
Published in Journal of clinical neuroscience (01.07.2022)
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Milder forms of α-sarcoglicanopathies diagnosed in adulthood by NGS analysis
Cantero, Diana, Hernández-Laín, Aurelio, Martínez, Juan Francisco Gonzalo, Pérez, María Rabasa, Ruano, Yolanda, Lleixà, Cinta, Gallardo, Eduard, Domínguez-González, Cristina
Published in Journal of the neurological sciences (15.11.2018)
Published in Journal of the neurological sciences (15.11.2018)
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Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the ILDHA/I Gene
Serrano-Lorenzo, Pablo, Rabasa, María, Esteban, Jesús, Hidalgo Mayoral, Irene, Domínguez-González, Cristina, Blanco-Echevarría, Agustín, Garrido-Moraga, Rocío, Lucia, Alejandro, Blázquez, Alberto, Rubio, Juan C, Palma-Milla, Carmen, Arenas, Joaquín, Martín, Miguel A
Published in Genes (01.10.2022)
Published in Genes (01.10.2022)
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Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease
Gutiérrez Gutiérrez, Gerardo, Díaz-Manera, Jordi, Almendrote, Míriam, Azriel, Sharona, Eulalio Bárcena, José, Cabezudo García, Pablo, Camacho Salas, Ana, Casanova Rodríguez, Carlos, Cobo, Ana María, Díaz Guardiola, Patricia, Fernández-Torrón, Roberto, Gallano Petit, María Pía, García Pavía, Pablo, Gómez Gallego, María, Gutiérrez Martínez, Antonio José, Jericó, Ivonne, Kapetanovic García, Solange, López de Munaín Arregui, Adolfo, Martorell, Loreto, Morís de la Tassa, Germán, Moreno Zabaleta, Raúl, Muñoz-Blanco, José Luis, Olivar Roldán, Juana, Pascual Pascual, Samuel Ignacio, Peinado Peinado, Rafael, Pérez, Helena, Poza Aldea, Juan José, Rabasa, María, Ramos, Alba, Rosado Bartolomé, Alfredo, Rubio Pérez, Miguel Ángel, Urtizberea, Jon Andoni, Zapata-Wainberg, Gustavo, Gutiérrez-Rivas, Eduardo
Published in Medicina clinica (19.07.2019)
Published in Medicina clinica (19.07.2019)
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Journal Article
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease
Gutiérrez Gutiérrez, Gerardo, Díaz-Manera, Jordi, Almendrote, Míriam, Azriel, Sharona, Eulalio Bárcena, José, Cabezudo García, Pablo, Camacho Salas, Ana, Casanova Rodríguez, Carlos, Cobo, Ana María, Díaz Guardiola, Patricia, Fernández-Torrón, Roberto, Gallano Petit, María Pía, García Pavía, Pablo, Gómez Gallego, María, Gutiérrez Martínez, Antonio José, Jericó, Ivonne, Kapetanovic García, Solange, López de Munaín Arregui, Adolfo, Martorell, Loreto, Morís de la Tassa, Germán, Moreno Zabaleta, Raúl, Muñoz-Blanco, José Luis, Olivar Roldán, Juana, Pascual Pascual, Samuel Ignacio, Peinado Peinado, Rafael, Pérez, Helena, Poza Aldea, Juan José, Rabasa, María, Ramos, Alba, Rosado Bartolomé, Alfredo, Rubio Pérez, Miguel Ángel, Urtizberea, Jon Andoni, Zapata-Wainberg, Gustavo, Gutiérrez-Rivas, Eduardo
Published in Medicina clínica (English ed.) (19.07.2019)
Published in Medicina clínica (English ed.) (19.07.2019)
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Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study
Domínguez-González, Cristina, Hernández-Voth, Ana, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Guerrero, Laura Bermejo, Morís, Germán, García-García, Jorge, Muelas, Nuria, León Hernández, Juan Carlos, Rabasa, Maria, Lora, David, Blázquez, Alberto, Arenas, Joaquín, Martin, Miguel Ángel
Published in Neuromuscular disorders : NMD (01.09.2022)
Published in Neuromuscular disorders : NMD (01.09.2022)
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Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
Martinez-Marin, Rafael Jenaro, Reyes-Leiva, David, Nascimento, Andrés, Muelas, Nuria, Dominguez-González, C., Paradas, Carmen, Olivé, Montse, García-Romero, Mar, Pascual-Pascual, Samuel Ignacio, Grau, Josep Maria, Barba-Romero, Miguel Angel, Gomez-Caravaca, Maria Teresa, de las Heras, Javier, Casquero, Pilar, Mendoza, Maria Dolores, de León, Juan Carlos, Gutierrez, Antonio, Morís, Germán, Blanco-Lago, Raquel, Ramos-Fransi, Alba, Pintós, Guillem, García-Antelo, Maria José, Rabasa, Maria, Morgado, Yolanda, Usón, Mercedes, Miralles, Francisco Javier, Bárcena-Llona, Jose Eulalio, Gómez-Belda, Ana Belén, Pedraza-Hueso, Maria Isabel, Hortelano, Miryam, Colomé, Antoni, Garcia-Martin, Guillermina, Lopez de Munain, Adolfo, Jericó, Ivonne, Galán-Dávila, Lucía, Pardo, Julio, Salgueiro-Origlia, Giorgina, Alonso-Pérez, Jorge, Pla-Junca, Francesc, Schiava, Marianela, Segovia-Simón, Sonia, Díaz-Manera, Jordi
Published in Neuromuscular disorders : NMD (01.01.2024)
Published in Neuromuscular disorders : NMD (01.01.2024)
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Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)
Serrano-Lorenzo, Pablo, Rabasa, María, Esteban, Jesús, Hidalgo Mayoral, Irene, Domínguez-González, Cristina, Blanco-Echevarría, Agustín, Garrido-Moraga, Rocío, Lucia, Alejandro, Blázquez, Alberto, Rubio, Juan C, Palma-Milla, Carmen, Arenas, Joaquín, Martín, Miguel A
Published in Genes (11.10.2022)
Published in Genes (11.10.2022)
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Premorbid dietetic habits and risk for Parkinson's disease
Ayuso-Peralta, Lucuía, Jiménez-Jiménez, Félix Javier, Cabrera-Valdivia, Francisco, Molina, JoséAntonio, Javier, María Rabasa, Almazán, De Pedro-Cuesta, Jesús, Tabernero, César, Giménez-Roldán, Santiago
Published in Parkinsonism & related disorders (1997)
Published in Parkinsonism & related disorders (1997)
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