Molecular Modelling Hurdle in the Next-Generation Sequencing Era von Fernandez, Guerau, Yubero, Dèlia, Palau, Francesc, Armstrong, Judith

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Woolly hair in tricho‐dento‐osseous syndrome von Perandones‐González, Héctor, Rusiñol‐Batlle, Lluis, Bosquez, David, Brunet‐Llobet, Lluis, Ivars, Marta, Yubero, Délia, Sarig, Ofer, Malki, Liron, Peled, Alon, Sprecher, Eli, Baselga, Eulalia

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Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases von Trifunov, Selena, Paredes-Fuentes, Abraham J, Badosa, Carmen, Codina, Anna, Montoya, Julio, Ruiz-Pesini, Eduardo, Jou, Cristina, Garrabou, Glòria, Grau-Junyent, Josep M, Yubero, Dèlia, Montero, Raquel, Muchart, Jordi, Ortigoza-Escobar, Juan D, O’Callaghan, Maria M, Nascimento, Andrés, Català, Albert, Garcia-Cazorla, Àngels, Jimenez-Mallebrera, Cecilia, Artuch, Rafael

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Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia von Minguez, Beatriz, de Los Santos, Mariela, Garcia-Volpe, Camila, Molera, Cristina, Paredes-Fuentes, Abraham J., Oliva, Clara, Arias, Angela, Rodriguez-Gonzalez, Helena, Yubero, Delia, Tondo, Mireia, Santos-Ocaña, Carlos, Meavilla, Silvia, Artuch, Rafael

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Gamma‐aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders von Cortès‐Saladelafont, Elisenda, Molero‐Luis, Marta, Cuadras, Daniel, Casado, Mercedes, Armstrong‐Morón, Judith, Yubero, Dèlia, Montoya, Julio, Artuch, Rafael, García‐Cazorla, Àngels, Ramos, Federico, Sierra, Cristina, Ormazábal, Aida, O'Callaghan‐Gordo, Mar, Nascimento‐Osorio, Andrés, Ortez‐González, Carlos Ignacio, Sanmartí‐Vilaplana, Francesc, Fons, Carme, González‐Álvarez, Verónica, Pérez‐Dueñas, Belén, Darling, Alejandra, Ortigoza‐Escobar, Juan Darío, Poo, Pilar, Duarte, Sofia, García‐Alix, Alfredo, Emperador, Sonia, Ruiz‐Pesini, Eduardo

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NGS for Metabolic Disease Diagnosis von Yubero, Dèlia, Artuch, Rafael

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Neurodevelopmental Gene‐Related Dystonia: A Pediatric Case with NAA15 Variant von Yubero, Delia, Martorell, Loreto, Nunes, Tania, Lyon, Gholson J., Ortigoza‐Escobar, Juan Darío

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Severity of GNAO1‐Related Disorder Correlates with Changes in G‐Protein Function von Domínguez‐Carral, Jana, Ludlam, William Grant, Junyent Segarra, Mar, Fornaguera Marti, Montserrat, Balsells, Sol, Muchart, Jordi, Čokolić Petrović, Dunja, Espinoza, Iván, Ortigoza‐Escobar, Juan Dario, Martemyanov, Kirill A., Armstrong, Judith, Blanco‐Lago, Raquel, Bou, Rosa, Cáceres‐Marzal, Cristina, Cancho‐Candela, Ramón, Candela, Santiago, Darling, Alejandra, Los Santos, Mariela Mercedes, García‐Cazorla, Angels, Martí‐Carrera, Itxaso, Martorell, Loreto, Mateos Checa, Rosario, Meavilla, Silvia, Mínguez Rodríguez, Beatriz, Pantoja, Jorge, Pías, Leticia, Parra Plantagenet‐Whyte, Fátima, Pinillos, Sergio, Ruiz‐Hernández, Carlos José, Rumià, Jordi, Caballero Pérez, Victoria, Salvador Cañibano, Maria, Yubero, Delia

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Laboratory Diagnosis of a Case with Coenzyme [Q.sub.10] Deficiency von Paredes-Fuentes, Abraham J, Julia-Palacios, Natalia A, Montero, Raquel, Yubero, Delia, Cascajo-Almenara, Maria V, Garcia-Cazorla, Angels, Santos-Ocana, Carlos, Artucha, Rafael

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Laboratory Diagnosis of a Case with Coenzyme Q10 Deficiency von Paredes-Fuentes, Abraham J, Julià-Palacios, Natalia A, Montero, Raquel, Yubero, Dèlia, Cascajo-Almenara, María V, García-Cazorla, Àngels, Santos-Ocaña, Carlos, Artuch, Rafael

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Clinical presentation and proteomic signature of patients with TANGO2 mutations von Mingirulli, Nadja, Pyle, Angela, Hathazi, Denisa, Alston, Charlotte L., Kohlschmidt, Nicolai, O'Grady, Gina, Waddell, Leigh, Evesson, Frances, Cooper, Sandra B. T., Turner, Christian, Duff, Jennifer, Topf, Ana, Yubero, Delia, Jou, Cristina, Nascimento, Andrés, Ortez, Carlos, García‐Cazorla, Angels, Gross, Claudia, O'Callaghan, Maria, Santra, Saikat, Preece, Maryanne A., Champion, Michael, Korenev, Sergei, Chronopoulou, Efsthatia, Anirban, Majumdar, Pierre, Germaine, McArthur, Daniel, Thompson, Kyle, Navas, Placido, Ribes, Antonia, Tort, Frederic, Schlüter, Agatha, Pujol, Aurora, Montero, Raquel, Sarquella, Georgia, Lochmüller, Hanns, Jiménez‐Mallebrera, Cecilia, Taylor, Robert W., Artuch, Rafael, Kirschner, Janbernd, Grünert, Sarah C., Roos, Andreas, Horvath, Rita

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Trichoscopic findings in neonatal alopecia in oro‐facial‐digital syndrome type 1 von Martinez‐Molina, Manel, Carmona‐Rocha, Elena, Gil‐Lianes, Javier, Yubero, Delia, Casas‐Alba, Dídac, Baselga, Eulàlia, Ivars, Marta

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The Value of Coenzyme Q10 Determination in Mitochondrial Patients von Yubero, Delia, Allen, George, Artuch, Rafael, Montero, Raquel

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Determination of urinary coenzyme Q10 by HPLC with electrochemical detection: Reference values for a paediatric population von Yubero, Dèlia, Montero, Raquel, Ramos, Maria, Neergheen, Viruna, Navas, Plácido, Artuch, Rafael, Hargreaves, Iain

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Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment von Cascajo-Almenara, Marivi V., Juliá-Palacios, Natalia, Urreizti, Roser, Sánchez-Cuesta, Ana, Fernández-Ayala, Daniel M., García-Díaz, Elena, Oliva, Clara, O´Callaghan, Maria del Mar, Paredes-Fuentes, Abraham J., Moreno-Lozano, Pedro J., Muchart, Jordi, Nascimento, Andres, Ortez, Carlos I., Natera-de Benito, Daniel, Pineda, Mercedes, Rivera, Noelia, Fortuna, Tyler R., Rajan, Deepa S., Navas, Plácido, Salviati, Leonardo, Palau, Francesc, Yubero, Delia, García-Cazorla, Angels, Pandey, Udai Bhan, Santos-Ocaña, Carlos, Artuch, Rafael

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Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy von Casas-Alba, Dídac, Aguilar, Anna, Alonso, Itziar, García, María Teresa, Cilio, Maria Roberta, Fons, Carmen, López-Pisón, Javier, Gutiérrez-Solana, Luis, Ferragut, Fernando, Ruiz-Falcó, María Luz, Soto-Insuga, Víctor, González, Elena, Pablos, Tamara, Mas, María José, Hernández, Sara, Vázquez-López, María, Fuentes-Pita, Patricia, Aguilera-Albesa, Sergio, Sánchez-Carpintero, Rocío, Garcia-Puig, Montserrat, García-Navas, Deyanira, Alarcón-Martínez, Helena, González, Candelaria, Calvo, Rocío, Extraviz, Ana, Muchart, Jordi, Palau, Francesc, Armstrong, Judith, Yubero, Dèlia, Valera, Carlos Eduardo, González, Verónica, O'’Callaghan, Mar, Borràs, Ariadna, García-Cazorla, Àngels, Casis, Óscar, Alquiza, Amaia, Rodríguez de Yurre, Ainhoa, Villarroel, Álvaro

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The diagnosis of the first‐documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome von Martorell, Loreto, Yubero, Delia, Capdevila, Esther Cuatrecasas, Fernández Isern, Guerau, Salinas, Diana, Mari Vico, Rosanna, Rebollo, Mónica, Muchart, Jordi, Armstrong, Judith, Ortigoza‐Escobar, Juan Darío

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The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center von Zouvelou, Vasiliki, Yubero, Delia, Apostolakopoulou, Loukia, Kokkinou, Eleftheria, Bilanakis, Manolis, Dalivigka, Zoi, Nikas, Ioannis, Kollia, Elissavet, Perez-Dueñas, Belen, Macaya, Alfons, Marcé-Grau, Anna, Voutetakis, Antonis, Anagnostopoulou, Katerina, Kekou, Kiriaki, Sofocleus, Christalena, Veltra, Danae, Kokkinis, Xaralabos, Fryssira, Helen, Torres, Rosa J., Amstrong, Judith, Santorelli, Filippo M., Artuch, Rafael, Pons, Roser

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Variants in DTNA cause a mild, dominantly inherited muscular dystrophy von Nascimento, Andres, Bruels, Christine C., Donkervoort, Sandra, Foley, A. Reghan, Codina, Anna, Milisenda, Jose C., Estrella, Elicia A., Li, Chengcheng, Pijuan, Jordi, Draper, Isabelle, Hu, Ying, Stafki, Seth A., Pais, Lynn S., Ganesh, Vijay S., O’Donnell-Luria, Anne, Syeda, Safoora B., Carrera-García, Laura, Expósito-Escudero, Jessica, Yubero, Delia, Martorell, Loreto, Pinal-Fernandez, Iago, Lidov, Hart G. W., Mammen, Andrew L., Grau-Junyent, Josep M., Ortez, Carlos, Palau, Francesc, Ghosh, Partha S., Darras, Basil T., Jou, Cristina, Kunkel, Louis M., Hoenicka, Janet, Bönnemann, Carsten G., Kang, Peter B., Natera-de Benito, Daniel

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New variants expand the neurological phenotype of COQ7 deficiency von Fabra, María Alcázar, Paredes‐Fuentes, Abraham J., Torralba Carnerero, Manuel, Moreno Férnandez de Ayala, Daniel J., Arroyo Luque, Antonio, Sánchez Cuesta, Ana, Staiano, Carmine, Sanchez‐Pintos, Paula, Luz Couce, María, Tomás, Miguel, Marco‐Hernández, Ana Victoria, Orellana, Carmen, Martínez, Francisco, Roselló, Mónica, Caro, Alfonso, Oltra Soler, Juan Silvestre, Monfort, Sandra, Sánchez, Alejandro, Rausell, Dolores, Vitoria, Isidro, Toro, Mireia, Garcia‐Cazorla, Angels, Julia‐Palacios, Natalia A., Jou, Cristina, Yubero, Delia, López, Luis Carlos, Hernández Camacho, Juan Diego, López Lluch, Guillermo, Ballesteros Simarro, Manuel, Rodríguez Aguilera, Juan Carlos, Calvo, Gloria Brea, Cascajo Almenara, María Victoria, Artuch, Rafael, Santos‐Ocaña, Carlos

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