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Homomeric Kv7.2 current suppression is a common feature in KCNQ2 epileptic encephalopathy
Gomis‐Pérez, Carolina, Urrutia, Janire, Marcé‐Grau, Anna, Malo, Covadonga, López‐Laso, Eduardo, Felipe‐Rucián, Ana, Raspall‐Chaure, Miquel, Macaya, Alfons, Villarroel, Alvaro
Published in Epilepsia (Copenhagen) (01.01.2019)
Published in Epilepsia (Copenhagen) (01.01.2019)
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Journal Article
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL
Rodríguez‐García, María Elena, Cotrina‐Vinagre, Francisco Javier, Bellusci, Marcello, Hernández‐Sánchez, Laura, Aragón, Ana Martínez, López‐Laso, Eduardo, Martín‐Hernández, Elena, Martínez‐Azorín, Francisco
Published in Human mutation (01.10.2022)
Published in Human mutation (01.10.2022)
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Journal Article
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity
Tristán‐Noguero, Alba, Borràs, Eva, Molero‐Luis, Marta, Wassenberg, Tessa, Peters, Tessa, Verbeek, Marcel M., Willemsen, Michel, Opladen, Thomas, Jeltsch, Kathrin, Pons, Roser, Thony, Beat, Horvath, Gabriella, Yapici, Zuhal, Friedman, Jennifer, Hyland, Keith, Agosta, Guillermo E., López‐Laso, Eduardo, Artuch, Rafael, Sabidó, Eduard, García‐Cazorla, Àngels
Published in Movement disorders (01.03.2021)
Published in Movement disorders (01.03.2021)
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Journal Article
Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency
Pata, Silvia, Flores-Rojas, Katherine, Gil, Angel, López-Laso, Eduardo, Marti-Sánchez, Laura, Baide-Mairena, Heydi, Pérez-Dueñas, Belén, Gil-Campos, Mercedes
Published in Orphanet journal of rare diseases (05.09.2022)
Published in Orphanet journal of rare diseases (05.09.2022)
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Journal Article
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1
Sánchez‐Lijarcio, Obdulia, Yubero, Delia, Leal, Fátima, Couce, María L., González Gutiérrez‐Solana, Luis, López‐Laso, Eduardo, García‐Cazorla, Àngels, Pías‐Peleteiro, Leticia, Azua Brea, Begoña, Ibáñez‐Micó, Salvador, Mateo‐Martínez, Gonzalo, Troncoso‐Schifferli, Monica, Witting‐Enriquez, Scarlet, Ugarte, Magdalena, Artuch, Rafael, Pérez, Belén
Published in Clinical genetics (01.07.2022)
Published in Clinical genetics (01.07.2022)
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Journal Article
Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism
Yıldız, Yılmaz, Kuseyri Hübschmann, Oya, Akgöz Karaosmanoğlu, Ayça, Manti, Filippo, Karaca, Meryem, Schwartz, Ida Vanessa D., Pons, Roser, López‐Laso, Eduardo, Palacios, Natalia Alexandra Julia, Porta, Francesco, Kavecan, Ivana, Balcı, Mehmet Cihan, Dy‐Hollins, Marisela E., Wong, Suet‐Na, Oppebøen, Mari, Medeiros, Leonardo Simão, Paula, Leila Cristina Pedroso, García‐Cazorla, Angeles, Hoffmann, Georg F., Jeltsch, Kathrin, Leuzzi, Vincenzo, Gökçay, Gülden, Hübschmann, Daniel, Harting, Inga, Özön, Z. Alev, Sivri, Serap, Opladen, Thomas
Published in Journal of inherited metabolic disease (01.05.2024)
Published in Journal of inherited metabolic disease (01.05.2024)
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Journal Article
Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases
Rovira-Remisa, M. Mar, Moreira, Mónica, Ventura, Paula Sol, Gonzalez-Alvarez, Pablo, Mestres, Núria, Graterol Torres, Fredzzia, Joaquín, Clara, Seuma, Agustí Rodríguez-Palmero, del Mar Martínez-Colls, Maria, Roche, Ana, Ibáñez-Micó, Salvador, López-Laso, Eduardo, Méndez-Hernández, María Jesús, Murillo, Marta, Monlleó-Neila, Laura, Maqueda-Castellote, Elena, del Toro Riera, Mireia, Felipe-Rucián, Ana, Giralt-López, Maria, Cortès-Saladelafont, Elisenda
Published in Molecular genetics and metabolism reports (01.06.2023)
Published in Molecular genetics and metabolism reports (01.06.2023)
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Journal Article
Simpson-Golabi-Behmel Syndrome Type 1 and Hepatoblastoma in a Patient With a Novel Exon 2-4 Duplication of the GPC3 Gene
Mateos, María Elena, Beyer, Katrin, López-Laso, Eduardo, Siles, Juan López, Pérez-Navero, Juan Luis, Peña, María José, Guzmán, Juana, Matas, Juliana
Published in American journal of medical genetics. Part A (01.05.2013)
Published in American journal of medical genetics. Part A (01.05.2013)
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Journal Article
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
Opladen, Thomas, López-Laso, Eduardo, Cortès-Saladelafont, Elisenda, Pearson, Toni S., Sivri, H. Serap, Yildiz, Yilmaz, Assmann, Birgit, Kurian, Manju A., Leuzzi, Vincenzo, Heales, Simon, Pope, Simon, Porta, Francesco, García-Cazorla, Angeles, Honzík, Tomáš, Pons, Roser, Regal, Luc, Goez, Helly, Artuch, Rafael, Hoffmann, Georg F., Horvath, Gabriella, Thöny, Beat, Scholl-Bürgi, Sabine, Burlina, Alberto, Verbeek, Marcel M., Mastrangelo, Mario, Friedman, Jennifer, Wassenberg, Tessa, Jeltsch, Kathrin, Kulhánek, Jan, Kuseyri Hübschmann, Oya
Published in Orphanet journal of rare diseases (26.05.2020)
Published in Orphanet journal of rare diseases (26.05.2020)
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Journal Article
Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease
López-Laso, Eduardo, Sánchez-Raya, Araceli, Moriana, Juan Antonio, Martínez-Gual, Eduardo, Camino-León, Rafael, Mateos-González, María Elena, Pérez-Navero, Juan Luis, Ochoa-Sepúlveda, Juan José, Ormazabal, Aida, Opladen, Thomas, Klein, Christine, Lao-Villadóniga, José Ignacio, Beyer, Katrin, Artuch, Rafael
Published in Journal of neurology (01.12.2011)
Published in Journal of neurology (01.12.2011)
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Journal Article
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
McEntagart, Meriel, Williamson, Kathleen A., Rainger, Jacqueline K., Wheeler, Ann, Seawright, Anne, De Baere, Elfride, Verdin, Hannah, Bergendahl, L. Therese, Quigley, Alan, Rainger, Joe, Dixit, Abhijit, Sarkar, Ajoy, López Laso, Eduardo, Sanchez-Carpintero, Rocio, Barrio, Jesus, Bitoun, Pierre, Prescott, Trine, Riise, Ruth, McKee, Shane, Cook, Jackie, McKie, Lisa, Ceulemans, Berten, Meire, Françoise, Temple, I. Karen, Prieur, Fabienne, Williams, Jonathan, Clouston, Penny, Németh, Andrea H., Banka, Siddharth, Bengani, Hemant, Handley, Mark, Freyer, Elisabeth, Ross, Allyson, van Heyningen, Veronica, Marsh, Joseph A., Elmslie, Frances, FitzPatrick, David R.
Published in American journal of human genetics (05.05.2016)
Published in American journal of human genetics (05.05.2016)
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Journal Article
Klinefelter Syndrome and Neuroblastoma
Mateos, María Elena, López-Laso, Eduardo, Pérez-Navero, Juan Luis
Published in Pediatric blood & cancer (01.10.2011)
Published in Pediatric blood & cancer (01.10.2011)
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Journal Article
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene
Marti‐Sanchez, Laura, Baide‐Mairena, Heidy, Marcé‐Grau, Anna, Pons, Roser, Skouma, Anastasia, López‐Laso, Eduardo, Sigatullina, Maria, Rizzo, Cristiano, Semeraro, Michela, Martinelli, Diego, Carrozzo, Rosalba, Dionisi‐Vici, Carlo, González‐Gutiérrez‐Solana, Luis, Correa‐Vela, Marta, Ortigoza‐Escobar, Juan Dario, Sánchez‐Montañez, Ángel, Vazquez, Élida, Delgado, Ignacio, Aguilera‐Albesa, Sergio, Yoldi, María Eugenia, Ribes, Antonia, Tort, Frederic, Pollini, Luca, Galosi, Serena, Leuzzi, Vincenzo, Tolve, Manuela, Pérez‐Gay, Laura, Aldamiz‐Echevarría, Luis, Del Toro, Mireia, Arranz, Antonio, Roelens, Filip, Urreizti, Roser, Artuch, Rafael, Macaya, Alfons, Pérez‐Dueñas, Belén
Published in Journal of inherited metabolic disease (01.03.2021)
Published in Journal of inherited metabolic disease (01.03.2021)
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Journal Article
Dyskinesias as a Limiting Factor in the Treatment of Segawa Disease
López-Laso, Eduardo, Beyer, Katrin, Opladen, Thomas, Artuch, Rafael, Saunders-Pullman, Rachel
Published in Pediatric neurology (01.06.2012)
Published in Pediatric neurology (01.06.2012)
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Journal Article
Clinical phenotypes of infantile onset CACNA1A-related disorder
Gur-Hartman, Tamar, Berkowitz, Oren, Yosovich, Keren, Roubertie, Agathe, Zanni, Ginevra, Macaya, Alfons, Heimer, Gali, Dueñas, Belén Pérez, Sival, Deborah A., Pode-Shakked, Ben, López-Laso, Eduardo, Humbertclaude, Véronique, Riant, Florence, Bosco, Luca, Cayron, Lital Bachar, Nissenkorn, Andreea, Nicita, Francesco, Bertini, Enrico, Hassin, Sharon, Ben Zeev, Bruria, Zerem, Ayelet, Libzon, Stephanie, Lev, Dorit, Linder, Ilan, Lerman-Sagie, Tally, Blumkin, Lubov
Published in European journal of paediatric neurology (01.01.2021)
Published in European journal of paediatric neurology (01.01.2021)
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Journal Article
Vanishing White Matter Disease in a Spanish Population
Turón-Viñas, Eulàlia, Pineda, Mercè, Cusí, Victòria, López-Laso, Eduardo, Del Pozo, Rebeca Losada, Gutiérrez-Solana, Luis González, Moreno, David Conejo, Sierra-Córcoles, Concha, Olabarrieta-Hoyos, Naiara, Madruga-Garrido, Marcos, Aguirre-Rodríguez, Javier, González-Álvarez, Verónica, O'callaghan, Mar, Muchart, Jordi, Armstrong-Moron, Judith
Published in Journal of Central Nervous System Disease (01.01.2014)
Published in Journal of Central Nervous System Disease (01.01.2014)
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Journal Article
Giant hypothalamic hamartoma and dacrystic seizures
López‐Laso, Eduardo, González, M. Elena Mateos, León, Rafael Camino, González, M. Dolores Jiménez, Rodríguez, Javier Esparza
Published in Epileptic disorders (01.03.2007)
Published in Epileptic disorders (01.03.2007)
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Journal Article
Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes
Fernández-Ramos, Joaquín A., De la Torre-Aguilar, María José, Quintáns, Beatriz, Pérez-Navero, Juan Luis, Beyer, Katrin, López-Laso, Eduardo, Ochoa Sepúlveda, J.J., Serrano Cárdenas, J., Sobrido Gómez, M.J., Mora, M.D., Moreno-Medinilla, E., Ramos, J., Llorente, M., Teva, M.D., Castaño-de la Mota, C., Martínez-Ruiz, J., González Gutierrez-Solana, L., Martí, M.J., Gómez-Esteban, J.C., Hernandez-Vara, J., García Cazorla, Á., Artuch, R., Adarmes, A., Mir, P.
Published in Parkinsonism & related disorders (01.01.2022)
Published in Parkinsonism & related disorders (01.01.2022)
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Journal Article