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Author/Creator Montero, Raquel

1. AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG). Issue 5 (22nd March 2019)

Authors:
Martínez‐Monseny, Antonio F.; Bolasell, Mercè; Callejón‐Póo, Laura; Cuadras, Daniel; Freniche, Verónica; Itzep, Débora C.; Gassiot, Susanna; Arango, Pedro; Casas‐Alba, Didac; de la Morena, Eugenia; Corral, Javier; Montero, Raquel; Pérez‐Cerdá, Celia; Pérez, Belén; Artuch, Rafael; Jaeken, Jaak; Se...
Other Names:
Velázquez‐Fragua Ramón investigator.; García Oscar investigator.; Gutierrez‐Solana Luis G investigator.; Macaya Alfons investigator.; Pérez‐Dueñas Belén investigator.; Aguilera‐Albesa Sergio investigator.; López Laura investigator.; Miranda Ma Concepción investigator.; Carratala Francisco investi...
Journal:
Annals of neurology
Issue:
Volume 85:Issue 5(2019)
Page Start:
740
Record Type:
Journal Article
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2. Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience. Issue 6 (4th July 2018)

Authors:
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...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 41:Issue 6(2018)
Page Start:
1147
Record Type:
Journal Article
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3. Characterization of CoQ10 biosynthesis in fibroblasts of patients with primary and secondary CoQ10 deficiency. Issue 1 (18th June 2013)

Authors:
Buján, Nuria; Arias, Angela; Montero, Raquel; García‐Villoria, Judit; Lissens, Willy; Seneca, Sara; Espinós, Carmen; Navas, Plácido; De Meirleir, Linda; Artuch, Rafael; Briones, Paz; Ribes, Antonia
Journal:
Journal of inherited metabolic disease
Issue:
Volume 37:Issue 1(2014)
Page Start:
53
Record Type:
Journal Article
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4. Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases. (3rd August 2021)

Authors:
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, Alb...
Journal:
Clinical chemistry
Issue:
Volume 67:Number 8(2021)
Page Start:
1113
Record Type:
Journal Article
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5. Clinical presentation and proteomic signature of patients with TANGO2 mutations. Issue 2 (13th August 2019)

Authors:
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, Angel...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 2(2020)
Page Start:
297
Record Type:
Journal Article
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7. Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2‐CDG). Issue 5 (9th June 2017)

Authors:
de Diego, Víctor; Martínez‐Monseny, Antonio F.; Muchart, Jordi; Cuadras, Daniel; Montero, Raquel; Artuch, Rafael; Pérez‐Cerdá, Celia; Pérez, Belén; Pérez‐Dueñas, Belén; Poretti, Andrea; Serrano, Mercedes
Journal:
Journal of inherited metabolic disease
Issue:
Volume 40:Issue 5(2017)
Page Start:
753
Record Type:
Journal Article
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8. Erratum to: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders. Issue 1 (December 2016)

Authors:
Cassis, Linda; Cortès-Saladelafont, Elisenda; Molero-Luis, Marta; Yubero, Delia; González, Maria; Ormazábal, Aida; Fons, Carme; Jou, Cristina; Sierra, Cristina; Ponce, Esperanza; Ramos, Federico; Armstrong, Judith; O'Callaghan, M.; Casado, Mercedes; Montero, Raquel; Meavilla-Olivas, Silvia; Artuc...
Journal:
Orphanet journal of rare diseases
Issue:
Volume 11:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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9. Expanding the phenotype of X‐linked SSR4–CDG: Connective tissue implications. Issue 2 (21st December 2020)

Authors:
Castiglioni, Claudia; Feillet, François; Barnerias, Christine; Wiedemann, Arnaud; Muchart, Jordi; Cortes, Fanny; Hernando‐Davalillo, Cristina; Montero, Raquel; Dupré, Thierry; Bruneel, Arnaud; Seta, Nathalie; Vuillaumier‐Barrot, Sandrine; Serrano, Mercedes
Journal:
Human mutation
Issue:
Volume 42:Issue 2(2021)
Page Start:
142
Record Type:
Journal Article
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10. Expanding the phenotype of X‐linked SSR4–CDG: Connective tissue implications. Issue 2 (21st December 2020)

Authors:
Castiglioni, Claudia; Feillet, François; Barnerias, Christine; Wiedemann, Arnaud; Muchart, Jordi; Cortes, Fanny; Hernando‐Davalillo, Cristina; Montero, Raquel; Dupré, Thierry; Bruneel, Arnaud; Seta, Nathalie; Vuillaumier‐Barrot, Sandrine; Serrano, Mercedes
Journal:
Human mutation
Issue:
Volume 42:Issue 2(2021)
Page Start:
142
Record Type:
Journal Article
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