OpenURL Connection Search

Select item for more details and to access through your institution.

Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders.
Published in:
2018
By:
- Cortès‐Saladelafont, Elisenda;
- Molero‐Luis, Marta;
- Cuadras, Daniel;
- Casado, Mercedes;
- Armstrong‐Morón, Judith;
- Yubero, Dèlia;
- Montoya, Julio;
- Artuch, Rafael;
- García‐Cazorla, Àngels;
- Institut De Recerca Sant Joan De Déu Working Group;
- Cortès-Saladelafont, Elisenda;
- Molero-Luis, Marta;
- Armstrong-Morón, Judith;
- García-Cazorla, Àngels
Publication type:
journal article
iPSC‐based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation.
Published in:
EMBO Molecular Medicine, 2023, v. 15, n. 3, p. 1, doi. 10.15252/emmm.202215847
By:
- Tristán‐Noguero, Alba;
- Fernández‐Carasa, Irene;
- Calatayud, Carles;
- Bermejo‐Casadesús, Cristina;
- Pons‐Espinal, Meritxell;
- Colini Baldeschi, Arianna;
- Campa, Leticia;
- Artigas, Francesc;
- Bortolozzi, Analia;
- Domingo‐Jiménez, Rosario;
- Ibáñez, Salvador;
- Pineda, Mercè;
- Artuch, Rafael;
- Raya, Ángel;
- García‐Cazorla, Àngels;
- Consiglio, Antonella
Publication type:
Article
Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 23, p. 12656, doi. 10.3390/ijms222312656
By:
- Santos-Gómez, Ana;
- Miguez-Cabello, Federico;
- Juliá-Palacios, Natalia;
- García-Navas, Deyanira;
- Soto-Insuga, Víctor;
- García-Peñas, Juan J.;
- Fuentes, Patricia;
- Ibáñez-Micó, Salvador;
- Cuesta, Laura;
- Cancho, Ramón;
- Andreo-Lillo, Patricia;
- Gutiérrez-Aguilar, Gema;
- Alonso-Luengo, Olga;
- Málaga, Ignacio;
- Hedrera-Fernández, Antonio;
- García-Cazorla, Àngels;
- Soto, David;
- Olivella, Mireia;
- Altafaj, Xavier
Publication type:
Article
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.
Published in:
Human Genetics, 2023, v. 142, n. 12, p. 1755, doi. 10.1007/s00439-023-02613-6
By:
- Tokatly Latzer, Itay;
- Roullet, Jean-Baptiste;
- Cesaro, Samuele;
- DiBacco, Melissa L.;
- Arning, Erland;
- Rotenberg, Alexander;
- Lee, Henry H. C.;
- Opladen, Thomas;
- Jeltsch, Kathrin;
- García-Cazorla, Àngels;
- Juliá-Palacios, Natalia;
- Gibson, K. Michael;
- Bertoldi, Mariarita;
- Pearl, Phillip L.
Publication type:
Article
l-Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B-related pediatric encephalopathy.
Published in:
Science Signaling, 2019, v. 12, n. 586, p. N.PAG, doi. 10.1126/scisignal.aaw0936
By:
- Soto, David;
- Olivella, Mireia;
- Grau, Cristina;
- Armstrong, Judith;
- Alcon, Clara;
- Gasull, Xavier;
- Santos-Gómez, Ana;
- Locubiche, Sílvia;
- de Salazar, Macarena Gómez;
- García-Díaz, Roberto;
- Gratacòs-Batlle, Esther;
- Ramos-Vicente, David;
- Chu-Van, Emeline;
- Colsch, Benoit;
- Fernández-Dueñas, Víctor;
- Ciruela, Francisco;
- Bayés, Àlex;
- Sindreu, Carlos;
- López-Sala, Anna;
- García-Cazorla, Àngels
Publication type:
Article
Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.
Published in:
Developmental Medicine & Child Neurology, 2013, v. 55, n. 6, p. 559, doi. 10.1111/dmcn.12116
By:
- Molero‐Luis, Marta;
- Serrano, Mercedes;
- Ormazábal, Aida;
- Pérez‐Dueñas, Belén;
- García‐Cazorla, Àngels;
- Pons, Roser;
- Artuch, Rafael;
- Amartino, Hernan;
- Arrabal, Luisa;
- Campistol, Jaume;
- Casado, Mercedes;
- Castro, Pedro Castro;
- Cormand, Bru;
- Dinopoulos, Argirios;
- Domingo, Rosario;
- Duarte, Sofia T;
- Fernández‐Álvarez, Emilio;
- Desviat, Lourdes R;
- Hegde, Anaita;
- López‐Laso, Eduardo
Publication type:
Article
The presence and severity of epilepsy coincide with reduced γ‐aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency.
Published in:
Epilepsia (Series 4), 2023, v. 64, n. 6, p. 1516, doi. 10.1111/epi.17592
By:
- Tokatly Latzer, Itay;
- Bertoldi, Mariarita;
- DiBacco, Melissa L.;
- Arning, Erland;
- Tsuboyama, Melissa;
- MacMullin, Paul;
- Sachee, Daniyal;
- Rotenberg, Alexander;
- Lee, Henry H. C.;
- Aygun, Deniz;
- Opladen, Thomas;
- Jeltsch, Kathrin;
- García‐Cazorla, Àngels;
- Roullet, Jean‐Baptiste;
- Gibson, K. Michael;
- Pearl, Phillip L.
Publication type:
Article
Laboratory Diagnosis of a Case with Coenzyme Q<sub>10</sub> Deficiency.
Published in:
Clinical Chemistry, 2020, v. 66, n. 11, p. 1465, doi. 10.1093/clinchem/hvaa202
By:
- Paredes-Fuentes, Abraham J.;
- JuliàPalacios, Natalia A.;
- Montero, Raquel;
- Yubero, Dèlia;
- Cascajo-Almenara, María V.;
- García-Cazorla, Àngels;
- Santos-Ocaña, Carlos;
- Artuch, Rafael
Publication type:
Article
Efficacy of baricitinib on chronic pericardial effusion in a patient with Aicardi–Goutières syndrome.
Published in:
2022
By:
- Casas-Alba, Dídac;
- Darling, Alejandra;
- Caballero, Eva;
- Mensa-Vilaró, Anna;
- Bartrons, Joaquim;
- Antón, Jordi;
- García-Cazorla, Àngels;
- Vanderver, Adeline;
- Armangué, Thaís
Publication type:
Case Study
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
Published in:
Clinical Genetics, 2022, v. 102, n. 1, p. 40, doi. 10.1111/cge.14138
By:
- Sánchez‐Lijarcio, Obdulia;
- Yubero, Delia;
- Leal, Fátima;
- Couce, María L.;
- González Gutiérrez‐Solana, Luis;
- López‐Laso, Eduardo;
- García‐Cazorla, Àngels;
- Pías‐Peleteiro, Leticia;
- de Azua Brea, Begoña;
- Ibáñez‐Micó, Salvador;
- Mateo‐Martínez, Gonzalo;
- Troncoso‐Schifferli, Monica;
- Witting‐Enriquez, Scarlet;
- Ugarte, Magdalena;
- Artuch, Rafael;
- Pérez, Belén
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
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
Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1131, doi. 10.1007/s10545-018-0230-z
By:
- Cortès‐Saladelafont, Elisenda;
- Lipstein, Noa;
- García‐Cazorla, Àngels
Publication type:
Article
Synaptic metabolism: a new approach to inborn errors of neurotransmission.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1065, doi. 10.1007/s10545-018-0235-7
By:
- Tristán‐Noguero, Alba;
- García‐Cazorla, Àngels
Publication type:
Article
Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1043, doi. 10.1007/s10545-018-0226-8
By:
- García‐Cazorla, Àngels;
- Saudubray, Jean‐Marie
Publication type:
Article
Synaptic metabolism and brain circuitries in inborn errors of metabolism.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 909, doi. 10.1007/s10545-018-00252-y
By:
- García‐Cazorla, Àngels;
- Artuch, Rafael;
- Bayès, Àlex
Publication type:
Article
Synaptic metabolism and brain circuitries in inborn errors of metabolism.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 909, doi. 10.1007/s10545-018-00252-y
By:
- García-Cazorla, Àngels;
- Artuch, Rafael;
- Bayès, Àlex
Publication type:
Article
Synaptic metabolism: a new approach to inborn errors of neurotransmission.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1065, doi. 10.1007/s10545-018-0235-7
By:
- Tristán-Noguero, Alba;
- García-Cazorla, Àngels
Publication type:
Article
Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1131, doi. 10.1007/s10545-018-0230-z
By:
- Cortès-Saladelafont, Elisenda;
- Lipstein, Noa;
- García-Cazorla, Àngels
Publication type:
Article
Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1043, doi. 10.1007/s10545-018-0226-8
By:
- García-Cazorla, Àngels;
- Saudubray, Jean-Marie
Publication type:
Article
Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 24, p. 3859, doi. 10.1093/hmg/ddaa220
By:
- Santos-Gómez, Ana;
- Miguez-Cabello, Federico;
- García-Recio, Adrián;
- Locubiche-Serra, Sílvia;
- García-Díaz, Roberto;
- Soto-Insuga, Víctor;
- Guerrero-López, Rosa;
- Juliá-Palacios, Natalia;
- Ciruela, Francisco;
- García-Cazorla, Àngels;
- Soto, David;
- Olivella, Mireia;
- Altafaj, Xavier
Publication type:
Article
Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 7, p. 1907, doi. 10.1093/hmg/ddt585
By:
- Tort, Frederic;
- Ferrer-Cortès, Xènia;
- Thió, Marta;
- Navarro-Sastre, Aleix;
- Matalonga, Leslie;
- Quintana, Ester;
- Bujan, Núria;
- Arias, Angela;
- García-Villoria, Judit;
- Acquaviva, Cecile;
- Vianey-Saban, Christine;
- Artuch, Rafael;
- García-Cazorla, Àngels;
- Briones, Paz;
- Ribes, Antonia
Publication type:
Article
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder.
Published in:
Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09538-9
By:
- Tokatly Latzer, Itay;
- Roullet, Jean-Baptiste;
- Afshar-Saber, Wardiya;
- Lee, Henry H. C.;
- Bertoldi, Mariarita;
- McGinty, Gabrielle E.;
- DiBacco, Melissa L.;
- Arning, Erland;
- Tsuboyama, Melissa;
- Rotenberg, Alexander;
- Opladen, Thomas;
- Jeltsch, Kathrin;
- García-Cazorla, Àngels;
- Juliá-Palacios, Natalia;
- Gibson, K. Michael;
- Sahin, Mustafa;
- Pearl, Phillip L.
Publication type:
Article
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.
Published in:
Movement Disorders, 2021, v. 36, n. 3, p. 690, doi. 10.1002/mds.28362
By:
- 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
Publication type:
Article
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
Published in:
2020
By:
- Ng, Joanne;
- Cortès‐Saladelafont, Elisenda;
- Abela, Lucia;
- Termsarasab, Pichet;
- Mankad, Kshitij;
- Sudhakar, Sniya;
- Gorman, Kathleen M.;
- Heales, Simon J.R.;
- Pope, Simon;
- Biassoni, Lorenzo;
- Csányi, Barbara;
- Cain, John;
- Rakshi, Karl;
- Coutts, Helen;
- Jayawant, Sandeep;
- Jefferson, Rosalind;
- Hughes, Deborah;
- García‐Cazorla, Àngels;
- Grozeva, Detelina;
- Raymond, F. Lucy
Publication type:
journal article
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
Published in:
Acta Neuropathologica, 2020, v. 140, n. 6, p. 971, doi. 10.1007/s00401-020-02223-w
By:
- García-Cazorla, Àngels;
- Verdura, Edgard;
- Juliá-Palacios, Natalia;
- Anderson, Eric N.;
- Goicoechea, Leire;
- Planas-Serra, Laura;
- Tsogtbaatar, Enkhtuul;
- Dsouza, Nikita R.;
- Schlüter, Agatha;
- Urreizti, Roser;
- Tarnowski, Jessica M.;
- Gavrilova, Ralitza H.;
- SHMT2 Working Group;
- Oyarzábal, Alfonso;
- Medina, Inés;
- Ormazábal, Aida;
- Muchart, Jordi;
- Carretero, Juan Manuel;
- Jou, Cristina;
- del Toro, Mireia
Publication type:
Article
Cover, Volume 42, Issue 1.
Published in:
Human Mutation, 2021, v. 42, n. 1, p. i, doi. 10.1002/humu.24161
By:
- García‐Recio, Adrián;
- Santos‐Gómez, Ana;
- Soto, David;
- Julia‐Palacios, Natalia;
- García‐Cazorla, Àngels;
- Altafaj, Xavier;
- Olivella, Mireia
Publication type:
Article
GRIN database: A unified and manually curated repertoire of GRIN variants.
Published in:
Human Mutation, 2021, v. 42, n. 1, p. 8, doi. 10.1002/humu.24141
By:
- García‐Recio, Adrián;
- Santos‐Gómez, Ana;
- Soto, David;
- Julia‐Palacios, Natalia;
- García‐Cazorla, Àngels;
- Altafaj, Xavier;
- Olivella, Mireia
Publication type:
Article

Found: 28