Works matching AU O'Callaghan, Mar

Results: 34

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

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

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

Coenzyme Q10-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

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

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

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

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

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

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 GABAA-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

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

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

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

Association between coenzyme Q10 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

Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey.

Published in:

Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12805

By:

Neugebauer, Julia;
Reinson, Karit;
Bellusci, Marcello;
Park, Julien H.;
Hikmat, Omar;
Bertini, Enrico;
Schiff, Manuel;
Ardissone, Anna;
Darin, Niklas;
Darling, Alejandra;
Diodato, Daria;
Diogo, Luisa;
Kristensen, Erle;
Kieć‐Wilk, Beata;
Macário, Maria Carmo;
Martinelli, Diego;
Messina, Martina;
O'Callaghan, Mar;
Ortigoza‐Escobar, Juan Darío;
Paiva Coelho, Margarida

Publication type:

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

Plasma coenzyme Q10 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

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

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

MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables.

Published in:

Diagnostics (2075-4418), 2025, v. 15, n. 1, p. 10, doi. 10.3390/diagnostics15010010

By:

Vega-Hanna, Lourdes;
Casas-Alba, Dídac;
Balsells, Sol;
Bolasell, Mercè;
Rubio, Patricia;
García-García, Ana;
García-García, Oscar;
O'Callaghan, Mar;
Pascual-Alonso, Ainhoa;
Armstrong, Judith;
Martinez-Monseny, Antonio F.

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

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

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

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

Works matching AU O'Callaghan, Mar

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

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

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

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

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

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

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

Front Cover.

Molecular characterization of Spanish patients with MECP2 duplication syndrome.

Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.

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

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

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

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.

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

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

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

Natural history of Sanfilippo syndrome in Spain.

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

Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey.

Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission.

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

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

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

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

Genistein supplementation in patients affected by Sanfilippo disease.

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

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

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

MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables.

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

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

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

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