Plasma coenzyme Q10 status is impaired in selected genetic conditions von Montero, Raquel, Yubero, Delia, Salgado, Maria C., González, María Julieta, Campistol, Jaume, O’Callaghan, Maria del Mar, Pineda, Mercè, Delgadillo, Verónica, Maynou, Joan, Fernandez, Guerau, Montoya, Julio, Ruiz-Pesini, Eduardo, Meavilla, Silvia, Neergheen, Viruna, García-Cazorla, Angels, Navas, Placido, Hargreaves, Iain, Artuch, Rafael

Volltext

Genistein supplementation in patients affected by Sanfilippo disease von Delgadillo, Verónica, O’Callaghan, Maria del Mar, Artuch, Rafael, Montero, Raquel, Pineda, Mercedes

Volltext

Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease von Andrade-Campos, Marcio, Alfonso, Pilar, Irun, Pilar, Armstrong, Judith, Calvo, Carmen, Dalmau, Jaime, Domingo, Maria-Rosario, Barbera, Jose-Luis, Cano, Horacio, Fernandez-Galán, Maria-Angeles, Franco, Rafael, Gracia, Inmaculada, Gracia-Antequera, Miguel, Ibañez, Angela, Lendinez, Francisco, Madruga, Marcos, Martin-Hernández, Elena, O'Callaghan, Maria Del Mar, Del Soto, Alberto Pérez, Del Prado, Yolanda Ruiz, Sancho-Val, Ignacio, Sanjurjo, Pablo, Pocovi, Miguel, Giraldo, Pilar

Volltext

Selective elimination of mitochondrial mutations in the germline by genome editing von Reddy, Pradeep, Ocampo, Alejandro, Suzuki, Keiichiro, Luo, Jinping, Bacman, Sandra R, Williams, Sion L, Sugawara, Atsushi, Okamura, Daiji, Tsunekawa, Yuji, Wu, Jun, Lam, David, Xiong, Xiong, Montserrat, Nuria, Esteban, Concepcion Rodriguez, Liu, Guang-Hui, Sancho-Martinez, Ignacio, Manau, Dolors, Civico, Salva, Cardellach, Francesc, Del Mar O'Callaghan, Maria, Campistol, Jaime, Zhao, Huimin, Campistol, Josep M, Moraes, Carlos T, Izpisua Belmonte, Juan Carlos

Volltext

Natural history of Sanfilippo syndrome in Spain von Delgadillo, Verónica, O'Callaghan, Maria del Mar, Gort, Laura, Coll, Maria Josep, Pineda, Mercedes

Volltext

Abnormal expression of cerebrospinal fluid cation chloride cotransporters in patients with Rett syndrome von Duarte, Sofia Temudo, Armstrong, Judith, Roche, Ana, Ortez, Carlos, Pérez, Ana, O'Callaghan, Maria del Mar, Pereira, Antonina, Sanmartí, Francesc, Ormazábal, Aida, Artuch, Rafael, Pineda, Mercedes, García-Cazorla, Angels

Volltext

Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features von Serrano, Mercedes, García-Silva, María Teresa, Martin-Hernandez, Elena, O'Callaghan, Maria del Mar, Quijada, Pilar, Martinez-Aragón, Ana, Ormazábal, Aida, Blázquez, Alberto, Martín, Miguel A, Briones, Paz, López-Gallardo, Ester, Ruiz-Pesini, Eduardo, Montoya, Julio, Artuch, Rafael, Pineda, Mercedes

Volltext

The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome von Vidal, S., Brandi, N., Pacheco, P., Maynou, J., Fernandez, G., Xiol, C., Pascual-Alonso, A., Pineda, M., Maria del Mar, O'Callaghan, Garcia-Cazorla, Àngels, del Carmen Serrano Munuera, Maria, García, Silvia Cuso, Troncoso, Monica, Fariña, Guillermo, García Peñas, Juan José, Fournier, Belen Gil, León, Soraya Ramiro, Guitart, Miriam, Baena, Neus, de Nanclares, Guiomar Perez, Oci, Intzane Ocio, Gutiérrez-Delicado, Eva, Abarrategui, Belén, Barroso, Eva, Santos-Simarro, Fernando, Lapunzina, Pablo, García, Francisco J., Acedo, Juan M., García, Asunción, Martinez, Miguel A., Martínez-Bermejo, Antonio, Armstrong, J.

Volltext

Plasma idebenone monitoring in Friedreich’s ataxia patients during a long-term follow-up von Paredes-Fuentes, Abraham J., Cesar, Sergi, Montero, Raquel, Latre, Cristina, Genovès, Jordi, Martorell, Loreto, Cuadras, Daniel, Colom, Helena, Pineda, Mercè, del Mar O’Callaghan, Maria, Sarquella-Brugada, Georgia, Darling, Alejandra, Artuch, Rafael

Volltext

Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes von Montero, Raquel, Grazina, Manuela, López-Gallardo, Ester, Montoya, Julio, Briones, Paz, Navarro-Sastre, Aleix, Land, John M., Hargreaves, Iain P., Artuch, Rafael, del Mar O'Callaghan, Maria, Jou, Cristina, Jimenez, Cecilia, Buján, Nuria, Pineda, Mercè, García-Cazorla, Angels, Nascimento, Andrés, Perez-Dueñas, Belen, Ruiz-Pesini, Eduardo, Fratter, Carl, Salviati, Leonardo, Simões, Marta, Mendes, Cândida, Santos, Maria João, Diogo, Luisa, Garcia, Paula, Navas, Plácido

Volltext

Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features von Tenorio‐Castaño, Jair Antonio, Arias, Pedro, Fernández‐Jaén, Alberto, Lay‐Son, Guillermo, Bueno‐Lozano, Gloria, Bayat, Allan, Faivre, Laurence, Gallego, Natalia, Ramos, Sergio, Butler, Kameryn M., Morel, Chantal, Hadjiyannakis, Stasia, Lespinasse, James, Tran‐Mau‐Them, Frederic, Santos‐Simarro, Fernando, Pinson, Lucile, Martínez‐Monseny, Antonio Federico, O'Callaghan Cord, María del Mar, Álvarez, Sara, Stolerman, Elliot S., Washington, Camerun, Ramos, Feliciano J., The S. O. G. R. I. Consortium, Lapunzina, Pablo

Volltext

New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset von del Mar O’Callaghan, María, Emperador, Sonia, López-Gallardo, Ester, Jou, Cristina, Buján, Nuria, Montero, Raquel, Garcia-Cazorla, Àngels, Gonzaga, Diana, Ferrer, Isidre, Briones, Paz, Ruiz-Pesini, Eduardo, Pineda, Mercè, Artuch, Rafael, Montoya, Julio

Volltext

Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome von Vidal, Silvia, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, Blasco, Laura, Trotta, Jean-Rémi, Derdak, Sophia, del Mar O’Callaghan, Maria, Garcia-Cazorla, Àngels, Pineda, Mercè, Armstrong, Judith

Volltext

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

Volltext

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome (vol 7, 12288, 2021) von Vidal, Silvia, Brandi, Nuria, Pacheco, Paola, Gerotina, Edgar, Blasco, Laura, Trotta, Jean-Remi, Derdak, Sophia, O'Callaghan, Maria del Mar, Garcia-Cazorla, Angels, Pineda, Merce, Armstrong, Judith

Volltext

Coenzyme Q₁₀ deficiency in mitochondrial DNA depletion syndromes von Montero, Raquel, Grazina, Manuela, López-Gallardo, Ester, Montoya, Julio, Briones, Paz, Navarro-Sastre, Aleix, Land, John M, Hargreaves, Iain P, Artuch, Rafael

Volltext

Encephalopathies with intracranial calcification in children: clinical and genetic characterization von Tonduti, Davide, Panteghini, Celeste, Pichiecchio, Anna, Decio, Alice, Carecchio, Miryam, Reale, Chiara, Moroni, Isabella, Nardocci, Nardo, Campistol, Jaume, Garcia-Cazorla, Angela, Perez Duenas, Belen, Chiapparini, Luisa, Garavaglia, Barbara, Orcesi, Simona

Volltext

Plasma coenzyme Q 10 status is impaired in selected genetic conditions von Montero, Raquel, Yubero, Delia, Salgado, Maria C, González, María Julieta, Campistol, Jaume, O'Callaghan, Maria Del Mar, Pineda, Mercè, Delgadillo, Verónica, Maynou, Joan, Fernandez, Guerau, Montoya, Julio, Ruiz-Pesini, Eduardo, Meavilla, Silvia, Neergheen, Viruna, García-Cazorla, Angels, Navas, Placido, Hargreaves, Iain, Artuch, Rafael

Volltext

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome von Vidal, Silvia, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, Blasco, Laura, Trotta, Jean-Rémi, Derdak, Sophia, del Mar O’Callaghan, Maria, Garcia-Cazorla, Àngels, Pineda, Mercè, Armstrong, Judith

Volltext

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome von Vidal, Silvia, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, Blasco, Laura, Trotta, Jean-Remi, Derdak, Sophia, del Mar O'Callaghan, María, García Cazorla, Àngels, Pineda, Mercè, Armstrong, Judith, Rett Working Group

Volltext