Found: 32

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  • Coenzyme Q<sub>10</sub>-responsive ataxia: 2-year-treatment follow-up.

    Published in:
    Movement Disorders, 2010, v. 25, n. 9, p. 1262, doi. 10.1002/mds.23129
    By:
    • Pineda, Merce;
    • Montero, Raquel;
    • Aracil, Asuncion;
    • O'Callaghan, Mar M.;
    • Mas, Ana;
    • Espinos, Carmen;
    • Martinez-Rubio, Dolores;
    • Palau, Francesc;
    • Navas, Placido;
    • Briones, Paz;
    • Artuch, Rafael
    Publication type:
    Article

  • Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant.

    Published in:
    Neurogenetics, 2019, v. 20, n. 2, p. 73, doi. 10.1007/s10048-019-00574-5
    By:
    • Sánchez-Iglesias, Sofía;
    • Crocker, Melissa;
    • O'Callaghan, Mar;
    • Darling, Alejandra;
    • García-Cazorla, Angels;
    • Domingo-Jiménez, Rosario;
    • Castro, Ana;
    • Fernández-Pombo, Antía;
    • Ruibal, Álvaro;
    • Aguiar, Pablo;
    • Garrido-Pumar, Miguel;
    • Rodríguez-Núñez, Antonio;
    • Álvarez-Escudero, Julián;
    • Brown, Rebecca J.;
    • Araújo-Vilar, David
    Publication type:
    Article

  • Plasma coenzyme Q<sub>10</sub> status is impaired in selected genetic conditions.

    Published in:
    Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-37542-2
    By:
    • 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
    Publication type:
    Article

  • Global Impairment of Immediate-Early Genes Expression in Rett Syndrome Models and Patients Linked to Myelination Defects.

    Published in:
    International Journal of Molecular Sciences, 2023, v. 24, n. 2, p. 1453, doi. 10.3390/ijms24021453
    By:
    • Petazzi, Paolo;
    • Jorge-Torres, Olga Caridad;
    • Gomez, Antonio;
    • Scognamiglio, Iolanda;
    • Serra-Musach, Jordi;
    • Merkel, Angelika;
    • Grases, Daniela;
    • Xiol, Clara;
    • O'Callaghan, Mar;
    • Armstrong, Judith;
    • Esteller, Manel;
    • Guil, Sonia
    Publication type:
    Article

  • Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.

    Published in:
    International Journal of Molecular Sciences, 2022, v. 23, n. 19, p. 11847, doi. 10.3390/ijms231911847
    By:
    • Martínez-Rubio, Dolores;
    • Hinarejos, Isabel;
    • Sancho, Paula;
    • Gorría-Redondo, Nerea;
    • Bernadó-Fonz, Raquel;
    • Tello, Cristina;
    • Marco-Marín, Clara;
    • Martí-Carrera, Itxaso;
    • Martínez-González, María Jesús;
    • García-Ribes, Ainhoa;
    • Baviera-Muñoz, Raquel;
    • Sastre-Bataller, Isabel;
    • Martínez-Torres, Irene;
    • Duat-Rodríguez, Anna;
    • Janeiro, Patrícia;
    • Moreno, Esther;
    • Pías-Peleteiro, Leticia;
    • Gordo, Mar O'Callaghan;
    • Ruiz-Gómez, Ángeles;
    • Muñoz, Esteban
    Publication type:
    Article

  • Comprehensive Analysis of GABA<sub>A</sub>-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease.

    Published in:
    International Journal of Molecular Sciences, 2020, v. 21, n. 2, p. 1, doi. 10.3390/ijms21020518
    By:
    • Oyarzabal, Alfonso;
    • Xiol, Clara;
    • Castells, Alba Aina;
    • Grau, Cristina;
    • O’Callaghan, Mar;
    • Fernández, Guerau;
    • Alcántara, Soledad;
    • Pineda, Mercè;
    • Armstrong, Judith;
    • Altafaj, Xavier;
    • García-Cazorla, Angels
    Publication type:
    Article

  • Association between coenzyme Q<sub>10</sub> and glucose transporter (GLUT1) deficiency

    Published in:
    BMC Pediatrics, 2014, v. 14, n. 1, p. 284, doi. 10.1186/s12887-014-0284-5
    By:
    • Yubero, Delia;
    • O’Callaghan, Mar;
    • Montero, Raquel;
    • Ormazabal, Aida;
    • Armstrong, Judith;
    • Espinos, Carmina;
    • Rodríguez, Maria A;
    • Jou, Cristina;
    • Castejon, Esperanza;
    • Aracil, Maria A;
    • Cascajo, Maria V;
    • Gavilan, Angela;
    • Briones, Paz;
    • Jimenez-Mallebrera, Cecilia;
    • Pineda, Mercedes;
    • Navas, Plácido;
    • Artuch, Rafael
    Publication type:
    Article

  • Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.

    Published in:
    Clinical Genetics, 2021, v. 100, n. 4, p. 405, doi. 10.1111/cge.14020
    By:
    • 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.
    Publication type:
    Article

  • Front Cover.

    Published in:
    Clinical Genetics, 2020, v. 97, n. 4, p. i, doi. 10.1111/cge.13733
    By:
    • Pascual‐Alonso, Ainhoa;
    • Blasco, Laura;
    • Vidal, Silvia;
    • Gean, Esther;
    • Rubio, Patricia;
    • O'Callaghan, Mar;
    • Martínez‐Monseny, Antonio F.;
    • Castells, Alba Aina;
    • Xiol, Clara;
    • Català, Vicenç;
    • Brandi, Nuria;
    • Pacheco, Paola;
    • Ros, Carlota;
    • Campo, Miguel;
    • Guillén, Encarna;
    • Ibañez, Salva;
    • Sánchez, María J.;
    • Lapunzina, Pablo;
    • Nevado, Julián;
    • Santos, Fernando
    Publication type:
    Article

  • Molecular characterization of Spanish patients with MECP2 duplication syndrome.

    Published in:
    Clinical Genetics, 2020, v. 97, n. 4, p. 610, doi. 10.1111/cge.13718
    By:
    • Pascual‐Alonso, Ainhoa;
    • Blasco, Laura;
    • Vidal, Silvia;
    • Gean, Esther;
    • Rubio, Patricia;
    • O'Callaghan, Mar;
    • Martínez‐Monseny, Antonio F.;
    • Castells, Alba Aina;
    • Xiol, Clara;
    • Català, Vicenç;
    • Brandi, Nuria;
    • Pacheco, Paola;
    • Ros, Carlota;
    • Campo, Miguel;
    • Guillén, Encarna;
    • Ibañez, Salva;
    • Sánchez, María J.;
    • Lapunzina, Pablo;
    • Nevado, Julián;
    • Santos, Fernando
    Publication type:
    Article

  • Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome.

    Published in:
    PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0068851
    By:
    • 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
    Publication type:
    Article

  • Combined Therapy with Idebenone and Deferiprone in Patients with Friedreich's Ataxia.

    Published in:
    Cerebellum, 2011, v. 10, n. 1, p. 1, doi. 10.1007/s12311-010-0212-7
    By:
    • Velasco-Sánchez, Daniel;
    • Aracil, Asuncion;
    • Montero, Raquel;
    • Mas, Ana;
    • Jiménez, Lorenzo;
    • O'Callaghan, Mar;
    • Tondo, Maria;
    • Capdevila, Antoni;
    • Blanch, Josep;
    • Artuch, Rafael;
    • Pineda, Mercedes
    Publication type:
    Article

  • The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

    Published in:
    Scientific Reports, 2017, v. 7, n. 1, p. 1, doi. 10.1038/s41598-017-11620-3
    By:
    • 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;
    • Aguirre, Francisco Javier;
    • Aleu, Montserrat;
    • Alonso, Xènia;
    • Alsius, Mercè;
    • Inmaculada Amorós, Maria;
    • Antiñolo, Guillermo;
    • Aquino, Lourdes;
    • Arellano, Carmen;
    • Arriola, Gema
    Publication type:
    Article

  • Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease.

    Published in:
    2017
    By:
    • 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;
    • del Mar O'Callaghan, Maria;
    • del Soto, Alberto Pérez;
    • del Prado, Yolanda Ruiz
    Publication type:
    journal article

  • Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.

    Published in:
    2015
    By:
    • Cassis, Linda;
    • Cortès-Saladelafont, Elisenda;
    • Molero-Luis, Marta;
    • Yubero, Delia;
    • González, Maria Julieta;
    • Herrero, Aida Ormazabal;
    • Fons, Carme;
    • Jou, Cristina;
    • Sierra, Cristina;
    • Ponce, Esperanza Castejon;
    • Ramos, Federico;
    • Armstrong, Judith;
    • Mar O'Callaghan, M.;
    • Casado, Mercedes;
    • Montero, Raquel;
    • Meavilla Olivas, Silvia Maria;
    • Artuch, Rafael;
    • Barić, Ivo;
    • Bartoloni, Franco;
    • Bellettato, Cinzia Maria
    Publication type:
    journal article

  • Natural history of Sanfilippo syndrome in Spain.

    Published in:
    2013
    By:
    • Delgadillo, Verónica;
    • O'Callaghan, Maria del;
    • Gort, Laura;
    • Coll, Maria Josep;
    • Pineda, Mercedes;
    • O'Callaghan, Maria del Mar
    Publication type:
    journal article

  • Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 551, doi. 10.1002/jimd.12689
    By:
    • Illescas, Sofía;
    • Diaz‐Osorio, Yaiza;
    • Serradell, Anna;
    • Toro‐Soria, Lucía;
    • Musokhranova, Uliana;
    • Juliá‐Palacios, Natalia;
    • Ribeiro‐Constante, Juliana;
    • Altafaj, Xavier;
    • Olivella, Mireia;
    • O'Callaghan, Mar;
    • Darling, Alejandra;
    • Armstrong, Judith;
    • Artuch, Rafael;
    • García‐Cazorla, Àngels;
    • Oyarzábal, Alfonso
    Publication type:
    Article

  • Comment on "A severe linezolid‐induced rhabdomyolysis and lactic acidosis in Leigh syndrome".

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 6, doi. 10.1002/jimd.12329
    By:
    • Bindoff, Laurence A.;
    • Brown, David A.;
    • Gorman, Gráinne S.;
    • Karaa, Amel;
    • Keshavan, Nandaki;
    • Lamperti, Constanza;
    • Mancuso, Michelangelo;
    • McFarland, Robert;
    • Ng, Yi Shiau;
    • O'Callaghan, Mar;
    • Pitceathly, Robert D. S.;
    • Rahman, Shamima;
    • Russel, Frans G. M.;
    • Schirris, Tom J. J.;
    • Varhaug, Kristin N.;
    • De Vries, Maaike C.
    Publication type:
    Article

  • Safety of drug use in patients with a primary mitochondrial disease: An international Delphi‐based consensus.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 800, doi. 10.1002/jimd.12196
    By:
    • De Vries, Maaike C.;
    • Brown, David A.;
    • Allen, Mitchell E.;
    • Bindoff, Laurence;
    • Gorman, Gráinne S.;
    • Karaa, Amel;
    • Keshavan, Nandaki;
    • Lamperti, Costanza;
    • McFarland, Robert;
    • Ng, Yi Shiau;
    • O'Callaghan, Mar;
    • Pitceathly, Robert D. S.;
    • Rahman, Shamima;
    • Russel, Frans G. M.;
    • Varhaug, Kristin N.;
    • Schirris, Tom J. J.;
    • Mancuso, Michelangelo
    Publication type:
    Article

  • Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1147, doi. 10.1007/s10545-018-0224-x
    By:
    • Batllori, Marta;
    • Molero‐Luis, Marta;
    • Ormazabal, Aida;
    • Montero, Raquel;
    • Sierra, Cristina;
    • Ribes, Antonia;
    • Montoya, Julio;
    • Ruiz‐Pesini, Eduardo;
    • O'Callaghan, Mar;
    • Pias, Leticia;
    • Nascimento, Andrés;
    • Palau, Francesc.;
    • Armstrong, Judith;
    • Yubero, Delia;
    • Ortigoza‐Escobar, Juan D.;
    • García‐Cazorla, Angels;
    • Artuch, Rafael
    Publication type:
    Article

  • Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1147, doi. 10.1007/s10545-018-0224-x
    By:
    • Batllori, Marta;
    • Molero-Luis, Marta;
    • Ormazabal, Aida;
    • Montero, Raquel;
    • Sierra, Cristina;
    • Ribes, Antonia;
    • Montoya, Julio;
    • Ruiz-Pesini, Eduardo;
    • O'Callaghan, Mar;
    • Pias, Leticia;
    • Nascimento, Andrés;
    • Palau, Francesc.;
    • Armstrong, Judith;
    • Yubero, Delia;
    • Ortigoza-Escobar, Juan D.;
    • García-Cazorla, Angels;
    • Artuch, Rafael
    Publication type:
    Article

  • Genistein supplementation in patients affected by Sanfilippo disease.

    Published in:
    Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1039, doi. 10.1007/s10545-011-9342-4
    By:
    • Delgadillo, Verónica;
    • O'Callaghan, Maria del Mar;
    • Artuch, Rafael;
    • Montero, Raquel;
    • Pineda, Mercedes
    Publication type:
    Article

  • Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

    Published in:
    2021
    By:
    • 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;
    • Rett Working Group;
    • Aguirre, Francisco Javier;
    • Aleu, Montserrat;
    • Alonso, Xènia;
    • Alsius, Mercè;
    • Inmaculada Amorós, Maria;
    • Antiñolo, Guillermo;
    • Aquino, Lourdes;
    • Arellano, Carmen
    Publication type:
    Correction Notice

  • Axenfeld-Rieger ocular anomaly and retinoblastoma caused by constitutional chromosome 13q deletion.

    Published in:
    Pediatric Blood & Cancer, 2010, v. 54, n. 3, p. 480, doi. 10.1002/pbc.22354
    By:
    • Roche, Ana;
    • Mora, Jaume;
    • Perez, Maria del Mar;
    • Gean, Esther;
    • Perez, Belen;
    • O'Callaghan, Mar;
    • Catala, Jaume;
    • De Torres, Carmen;
    • Cruz, Ofelia;
    • Prat, Joan;
    • Parareda, Andreu
    Publication type:
    Article

  • Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study.

    Published in:
    Biomedicines, 2023, v. 11, n. 10, p. 2861, doi. 10.3390/biomedicines11102861
    By:
    • Stanescu, Sinziana;
    • Correcher Medina, Patricia;
    • del Castillo, Francisco J.;
    • Alonso Luengo, Olga;
    • Arto Millan, Luis Maria;
    • Belanger Quintana, Amaya;
    • Camprodon Gomez, Maria;
    • Diez Langhetée, Lydia;
    • Garcia Campos, Oscar;
    • Matas Garcia, Ana;
    • Perez-Moreno, Jimena;
    • Rubio Gribble, Barbara;
    • Visa-Reñé, Nuria;
    • Giraldo-Castellano, Pilar;
    • O'Callaghan Gordo, Mar
    Publication type:
    Article

  • Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy.

    Published in:
    2022
    By:
    • Juliá‐Palacios, Natalia;
    • Molina‐Anguita, Cristina;
    • Sigatulina Bondarenko, María;
    • Cortès‐Saladelafont, Elisenda;
    • Aparicio, Javier;
    • Cuadras, Daniel;
    • Horvath, Gabriella;
    • Fons, Carmen;
    • Artuch, Rafael;
    • García‐Cazorla, Àngels;
    • Ulate‐Campos, Adriana;
    • Darling, Alejandra;
    • O'Callaghan, Mar;
    • Pías‐Peleteiro, Leticia;
    • Ormazabal, Aida;
    • Mussarra, Clara Oliva;
    • Valera, Carlos;
    • Ramírez‐Camacho, Alia;
    • Juliá-Palacios, Natalia;
    • Molina-Anguita, Cristina
    Publication type:
    journal article

  • Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy.

    Published in:
    Biomedicines, 2021, v. 9, n. 2, p. 148, doi. 10.3390/biomedicines9020148
    By:
    • Castells, Alba-Aina;
    • Balada, Rafel;
    • Tristán-Noguero, Alba;
    • O'Callaghan, Mar;
    • Cortès-Saladelafont, Elisenda;
    • Pascual-Alonso, Ainhoa;
    • Garcia-Cazorla, Àngels;
    • Armstrong, Judith;
    • Alcántara, Soledad;
    • Ekker, Marc
    Publication type:
    Article

  • Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.

    Published in:
    2020
    By:
    • Urreizti, Roser;
    • Lopez-Martin, Estrella;
    • Martinez-Monseny, Antonio;
    • Pujadas, Montse;
    • Castilla-Vallmanya, Laura;
    • Pérez-Jurado, Luis Alberto;
    • Serrano, Mercedes;
    • Natera-de Benito, Daniel;
    • Martínez-Delgado, Beatriz;
    • Posada-de-la-Paz, Manuel;
    • Alonso, Javier;
    • Marin-Reina, Purificación;
    • O'Callaghan, Mar;
    • Grinberg, Daniel;
    • Bermejo-Sánchez, Eva;
    • Balcells, Susanna
    Publication type:
    journal article

  • New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients.

    Published in:
    Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 11, p. N.PAG, doi. 10.1002/mgg3.972
    By:
    • Pérez‐Grijalba, Virginia;
    • García‐Oguiza, Alberto;
    • López, María;
    • Armstrong, Judith;
    • García‐Miñaur, Sixto;
    • Mesa‐Latorre, Jose María;
    • O'Callaghan, Mar;
    • Pineda Marfa, Mercé;
    • Ramos‐Arroyo, Maria Antonia;
    • Santos‐Simarro, Fernando;
    • Seidel, Verónica;
    • Domínguez‐Garrido, Elena
    Publication type:
    Article

  • Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.

    Published in:
    European Journal of Neurology, 2024, v. 31, n. 7, p. 1, doi. 10.1111/ene.16275
    By:
    • Mancuso, Michelangelo;
    • Papadopoulou, Maria T.;
    • Ng, Yi Shiau;
    • Ardissone, Anna;
    • Bellusci, Marcello;
    • Bertini, Enrico;
    • Di Vito, Lidia;
    • Evangelista, Teresinha;
    • Fons, Carmen;
    • Hikmat, Omar;
    • Horvath, Rita;
    • Klopstock, Thomas;
    • Kornblum, Cornelia;
    • Lamperti, Costanza;
    • Licchetta, Laura;
    • Molnar, Maria Judit;
    • Varhaug, Kristin N.;
    • O'Callaghan, Mar;
    • Pressler, Ronit M.;
    • Schiff, Manuel
    Publication type:
    Article

  • GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction.

    Published in:
    PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0148709
    By:
    • Montero, Raquel;
    • Yubero, Delia;
    • Villarroya, Joan;
    • Henares, Desiree;
    • Jou, Cristina;
    • Rodríguez, Maria Angeles;
    • Ramos, Federico;
    • Nascimento, Andrés;
    • Ortez, Carlos Ignacio;
    • Campistol, Jaume;
    • Perez-Dueñas, Belen;
    • O'Callaghan, Mar;
    • Pineda, Mercedes;
    • Garcia-Cazorla, Angeles;
    • Oferil, Jaume Colomer;
    • Montoya, Julio;
    • Ruiz-Pesini, Eduardo;
    • Emperador, Sonia;
    • Meznaric, Marija;
    • Campderros, Laura
    Publication type:
    Article

  • Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.

    Published in:
    Brain Pathology, 2023, v. 33, n. 3, p. 1, doi. 10.1111/bpa.13134
    By:
    • Muñoz‐Pujol, Gerard;
    • Ortigoza‐Escobar, Juan D.;
    • Paredes‐Fuentes, Abraham J.;
    • Jou, Cristina;
    • Ugarteburu, Olatz;
    • Gort, Laura;
    • Yubero, Delia;
    • García‐Cazorla, Angels;
    • O'Callaghan, Mar;
    • Campistol, Jaume;
    • Muchart, Jordi;
    • Yépez, Vicente A.;
    • Gusic, Mirjana;
    • Gagneur, Julien;
    • Prokisch, Holger;
    • Artuch, Rafael;
    • Ribes, Antonia;
    • Urreizti, Roser;
    • Tort, Frederic
    Publication type:
    Article