Leucodistrofia hipomielinizante de tipo 6. Claves clínicas y de neuroimagen en la detección de un nuevo caso
Otero Domínguez, Elvira, Gómez Lado, Carmen, Fuentes Pita, Patricia, Dacruz Álvarez, David, Barros Angueira, Francisco, Eirís Puñal, Jesús Manuel
Published in Revista de neurologiá (01.11.2018)
Published in Revista de neurologiá (01.11.2018)
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Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene
Castro-Gago, Manuel, Dacruz-Alvarez, David, Pintos-Martínez, Elena, Beiras-Iglesias, Andrés, Arenas, Joaquín, Martín, Miguel Ángel, Martínez-Azorín, Francisco
Published in Brain & development (Tokyo. 1979) (01.01.2016)
Published in Brain & development (Tokyo. 1979) (01.01.2016)
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Análisis retrospectivo sobre el efecto del estimulador vagal implantado en pacientes pediátricos con epilepsia refractaria
Fuentes Pita, Patricia, Gómez Lado, Carmen, Dacruz Álvarez, David, Eirís Puñal, Jesús Manuel, Prieto González, Ángel, Castro Gago, Manuel
Published in Revista de neurologiá (01.07.2016)
Published in Revista de neurologiá (01.07.2016)
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Caracterización molecular y descripción fenotípica de dos casos con aberraciones cromosómicas recíprocas en la región de los síndromes de microdeleción/microduplicación 3q29
Quintela García, Inés, Barros Angueira, Francisco, Pérez Gay, Laura, Dacruz Álvarez, David, Castro Gago, Manuel, Carracedo, Ángel, Eirís Puñal, Jesús Manuel
Published in Revista de neurologiá (01.09.2015)
Published in Revista de neurologiá (01.09.2015)
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Copy number variation analysis of patients with intellectual disability from North-West Spain
Quintela, Inés, Eirís, Jesús, Gómez-Lado, Carmen, Pérez-Gay, Laura, Dacruz, David, Cruz, Raquel, Castro-Gago, Manuel, Míguez, Luz, Carracedo, Ángel, Barros, Francisco
Published in Gene (30.08.2017)
Published in Gene (30.08.2017)
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Molecular characterisation and phenotypic description of two patients with reciprocal chromosomal aberrations in the region of the 3q29 microdeletion/microduplication syndromes
Quintela, I, Barros-Angueira, F, Perez-Gay, L, Dacruz, D, Castro-Gago, M, Carracedo, A, Eiris-Punal, J
Published in Revista de neurologiá (16.09.2015)
Published in Revista de neurologiá (16.09.2015)
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Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis
Armangue, Thaís, Spatola, Marianna, Vlagea, Alexandru, Mattozzi, Simone, Cárceles-Cordon, Marc, Martinez-Heras, Eloy, Llufriu, Sara, Muchart, Jordi, Erro, María Elena, Abraira, Laura, Moris, German, Monros-Giménez, Luis, Corral-Corral, Íñigo, Montejo, Carmen, Toledo, Manuel, Bataller, Luis, Secondi, Gabriela, Ariño, Helena, Martínez-Hernández, Eugenia, Juan, Manel, Marcos, Maria Angeles, Alsina, Laia, Saiz, Albert, Rosenfeld, Myrna R, Graus, Francesc, Dalmau, Josep, Aguilera-Albesa, Sergio, Amado-Puentes, Alfonso, Arjona-Padillo, Antonio, Arrabal, Luisa, Arratibel, Izascun, Aznar-Laín, Gemma, Bellas-Lamas, Paula, Bermejo, Teresa, Boyero-Durán, Sabas, Camacho, Ana, Campo, Andrea, Campos, Dulce, Cantarín-Extremera, Verónica, Carnero, Cristóbal, Conejo-Moreno, David, Dapena, Marta, Dacruz-Álvarez, David, Delgadillo-Chilavert, Verónica, Deyà, Angela, Estela-Herrero, Jordi, Felipe, Anna, Fernández-Cooke, Elisa, Fernández-Ramos, Joaquín, Fortuny, Claudia, García-Monco, Juan C, Gili, Teresa, González-Álvarez, Verónica, Guerri, Robert, Guillén, Sara, Hedrera-Fernández, Antonio, López, María, López-Laso, Eduardo, Lorenzo-Ruiz, María, Madruga, Marcos, Málaga-Diéguez, Ignacio, Martí-Carrera, Itxaso, Martínez-Lacasa, Xavier, Martín-Viota, Lucía, Martín Gil, Leticia, Martínez-González, María-Jesús, Moreira, Antia, Miranda-Herrero, María C, Monge, Lorena, Muñoz-Cabello, Beatriz, Navarro-Morón, Juan, Neth, Olaf, Noguera-Julian, Antoni, Nuñez-Enamorado, Noemí, Pomar, Virginia, Portillo-Cuenca, Juan C, Poyato, María, Prieto, Luis, Querol, Luis, Rodríguez-Rodríguez, Eloy, Sarria-Estrada, Silvana, Sierra, Concepción, Soler-Palacín, Pere, Soto-Insuga, Víctor, Toledo-Bravo, Laura, Tomás, Miguel, Torres-Torres, Carmen, Turón, Eulàlia, Zabalza, Ana
Published in Lancet neurology (01.09.2018)
Published in Lancet neurology (01.09.2018)
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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
Ebrahimi-Fakhari, Darius, Teinert, Julian, Behne, Robert, Wimmer, Miriam, D'Amore, Angelica, Eberhardt, Kathrin, Brechmann, Barbara, Ziegler, Marvin, Jensen, Dana M, Nagabhyrava, Premsai, Geisel, Gregory, Carmody, Erin, Shamshad, Uzma, Dies, Kira A, Yuskaitis, Christopher J, Salussolia, Catherine L, Ebrahimi-Fakhari, Daniel, Pearson, Toni S, Saffari, Afshin, Ziegler, Andreas, Kölker, Stefan, Volkmann, Jens, Wiesener, Antje, Bearden, David R, Lakhani, Shenela, Segal, Devorah, Udwadia-Hegde, Anaita, Martinuzzi, Andrea, Hirst, Jennifer, Perlman, Seth, Takiyama, Yoshihisa, Xiromerisiou, Georgia, Vill, Katharina, Walker, William O, Shukla, Anju, Dubey Gupta, Rachana, Dahl, Niklas, Aksoy, Ayse, Verhelst, Helene, Delgado, Mauricio R, Kremlikova Pourova, Radka, Sadek, Abdelrahim A, Elkhateeb, Nour M, Blumkin, Lubov, Brea-Fernández, Alejandro J, Dacruz-Álvarez, David, Smol, Thomas, Ghoumid, Jamal, Miguel, Diego, Heine, Constanze, Schlump, Jan-Ulrich, Langen, Hendrik, Baets, Jonathan, Bulk, Saskia, Darvish, Hossein, Bakhtiari, Somayeh, Kruer, Michael C, Lim-Melia, Elizabeth, Aydinli, Nur, Alanay, Yasemin, El-Rashidy, Omnia, Nampoothiri, Sheela, Patel, Chirag, Beetz, Christian, Bauer, Peter, Yoon, Grace, Guillot, Mireille, Miller, Steven P, Bourinaris, Thomas, Houlden, Henry, Robelin, Laura, Anheim, Mathieu, Alamri, Abdullah S, Mahmoud, Adel A H, Inaloo, Soroor, Habibzadeh, Parham, Faghihi, Mohammad Ali, Jansen, Anna C, Brock, Stefanie, Roubertie, Agathe, Darras, Basil T, Agrawal, Pankaj B, Santorelli, Filippo M, Gleeson, Joseph, Zaki, Maha S, Sheikh, Sarah I, Bennett, James T, Sahin, Mustafa
Published in Brain (London, England : 1878) (01.10.2020)
Published in Brain (London, England : 1878) (01.10.2020)
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16p11.2 microdeletion associated to early onset benign childhood seizures
Castro-Gago, Manuel, Pérez-Gay, Laura, Gómez-Lado, Carmen, Dacruz, David, Barros-Angueira, Francisco
Published in Revista de neurologiá (16.01.2013)
Published in Revista de neurologiá (16.01.2013)
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Journal Article
Corrigendum to “Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene” [Brain Dev. 38 (2016) 167–172]
Castro-Gago, Manuel, Dacruz-Alvarez, David, Pintos-Martínez, Elena, Beiras-Iglesias, Andrés, Arenas, Joaquín, Martín, Miguel Ángel, Martínez-Azorín, Francisco
Published in Brain & development (Tokyo. 1979) (01.09.2016)
Published in Brain & development (Tokyo. 1979) (01.09.2016)
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Journal Article
Microdeletion 2q23.1 and syndromic findings
Pérez-Gay, Laura, Gómez-Lado, Carmen, Eirís-Puñal, Jesús, Dacruz, David, Quintela, Inés, Barros-Angueira, Francisco, Castro-Gago, Manuel
Published in Revista de neurologiá (01.11.2013)
Published in Revista de neurologiá (01.11.2013)
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Journal Article
Exome sequencing identifies a CHKB mutation in Spanish patient with Megaconial Congenital Muscular Dystrophy and mtDNA depletion
Castro-Gago, Manuel, Dacruz-Alvarez, David, Pintos-Martínez, Elena, Beiras-Iglesias, Andrés, Delmiro, Aitor, Arenas, Joaquín, Martín, Miguel Ángel, Martínez-Azorín, Francisco
Published in European journal of paediatric neurology (01.11.2014)
Published in European journal of paediatric neurology (01.11.2014)
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Journal Article
Juvenile Alpers disease
Pérez-Gay, Laura, Gómez-Lado, Carmen, Eirís-Puñal, Jesús, Dacruz, David, Rodríguez-Núñez, Antonio, Bornstein, Belén, Castro-Gago, Manuel
Published in Revista de neurologiá (16.12.2013)
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Published in Revista de neurologiá (16.12.2013)
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