D
Daniel Natera-de Benito
Researcher at Hospital Sant Joan de Déu Barcelona
Publications - 24
Citations - 172
Daniel Natera-de Benito is an academic researcher from Hospital Sant Joan de Déu Barcelona. The author has contributed to research in topics: Muscular dystrophy & Exome. The author has an hindex of 5, co-authored 24 publications receiving 69 citations. Previous affiliations of Daniel Natera-de Benito include Carlos III Health Institute & University of Barcelona.
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Journal ArticleDOI
Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy.
Selena Trifunov,Daniel Natera-de Benito,Jesica Maria Exposito Escudero,Carlos Ortez,Julita Medina,Daniel Cuadras,Carmen Badosa,L. Carrera,Andrés Nascimento,Andrés Nascimento,Cecilia Jimenez-Mallebrera,Cecilia Jimenez-Mallebrera +11 more
TL;DR: A trend for microRNA levels to decrease with age is reported, and miR-206 expression levels are capable to distinguish DMD from BMD patients according to ROC analysis, andmiR-30c expression decreased in the muscle of DMD patients and marked upregulation of the target genes for this microRNA.
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Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain
Lidia Gonzalez-Quereda,Lidia Gonzalez-Quereda,María José Gómez Rodríguez,Jordi Díaz-Manera,Jordi Díaz-Manera,Jorge Alonso-Pérez,Eduard Gallardo,Eduard Gallardo,Andrés Nascimento,Carlos Ortez,Daniel Natera-de Benito,Montse Olivé,Laura Gonzalez-Mera,Adolfo López de Munain,Miren Zulaica,Juan José Poza,Ivonne Jericó,Laura Torné,Pau Riera,José C. Milisenda,Aurora Sánchez,Glòria Garrabou,Glòria Garrabou,Isabel Llano,Marcos Madruga-Garrido,Pia Gallano,Pia Gallano +26 more
TL;DR: The custom gene panel designed in the lab proved to be a powerful tool to diagnose patients with myopathies, muscular dystrophies and congenital myasthenic syndromes, offering reliable results in a short time and relegating invasive techniques to a second tier.
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Molecular characterization of congenital myasthenic syndromes in Spain
Daniel Natera-de Benito,Ana Töpf,J. Domínguez-Carral,Juan J. Vílchez,Jorge Alberto Diaz Manera,Carlos Ortez,Jaume Colomer Oferil,Hanns Lochmüller,Andrés Nascimento +8 more
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Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
Roser Urreizti,Roser Urreizti,Roser Urreizti,Estrella Lopez-Martin,Antonio Martinez-Monseny,Montse Pujadas,Laura Castilla-Vallmanya,Laura Castilla-Vallmanya,Luis A. Pérez-Jurado,Luis A. Pérez-Jurado,Luis A. Pérez-Jurado,Mercedes Serrano,Mercedes Serrano,Daniel Natera-de Benito,Beatriz Martinez-Delgado,Manuel Posada-de-la-Paz,Javier Alonso,Purificación Marin-Reina,Mar O'Callaghan,Daniel Grinberg,Daniel Grinberg,Eva Bermejo-Sánchez,Susanna Balcells,Susanna Balcells +23 more
TL;DR: An extensive revision of the clinical features of these five patients revealed high concordance with the 80 cases previously reported, including developmental delay with speech delay, feeding difficulties, hypotonia, a high bulbous nose, and recurrent infections.
Journal ArticleDOI
COVID-19 in children with neuromuscular disorders.
Daniel Natera-de Benito,Sergio Aguilera-Albesa,Laura Costa-Comellas,Mar García-Romero,María Concepción Miranda-Herrero,Júlia Rúbies Olives,Óscar García-Campos,Elena Martínez del Val,Maria Josefa Martinez Garcia,Inmaculada Medina Martínez,Ramón Cancho-Candela,M. Fernandez-Garcia,Samuel I. Pascual-Pascual,David Gómez-Andrés,Andrés Nascimento +14 more
TL;DR: A registry of children with neuromuscular conditions and laboratory-confirmed SARS-CoV-2 infection was set up by the Neuruscular Working Group of the Spanish Pediatric Neurology Society (SENEP) as discussed by the authors.