Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Beatriz Bernardino-Cuesta"'
Autor:
Isabel Pérez-Sebastián, Jana Ruiz-Herrero, Elvira Cañedo-Villarroya, C. Pedrón-Giner, Beatriz Bernardino-Cuesta
Publikováno v:
Seizure. 92:106-111
Purpose Ketogenic dietary therapies (KDT) are high-fat and low-carbohydrate diets that may achieve seizure control and improve cognitive state. We describe our KDT experience in infants (children less than two years of age). Research methods & proced
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85aecf090f0f92529cae546e1a8a767e
https://doi.org/10.1016/j.seizure.2021.08.018
https://doi.org/10.1016/j.seizure.2021.08.018
Autor:
Beatriz Bernardino-Cuesta, María Jiménez-Legido, Serafín Rodríguez-Palero, I. Leoz-Gordillo, Verónica Cantarín-Extremera, David Mansilla-Lozano, Anna Duat-Rodríguez, Víctor Soto-Insuga, María Luz Ruiz-Falcó-Rojas, Manuel Luján-Bonete, Silvia Buendía-Martínez
Publikováno v:
Journal of Pediatric Neurology. 20:330-335
A variety of symptoms affecting the nervous system and/or skeletal muscle have been described during the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) pandemic. Though largely unexplored in children, intensive care unit-acquired weakne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1661fc6304accbb0f47ee7f2abf69eff
https://doi.org/10.1055/s-0041-1728700
https://doi.org/10.1055/s-0041-1728700
Autor:
Amytice Mirchi, Simon-Pierre Guay, Luan T Tran, Nicole I Wolf, Adeline Vanderver, Bernard Brais, Michel Sylvain, Daniela Pohl, Elsa Rossignol, Michael Saito, Sebastien Moutton, Luis González-Gutiérrez-Solana, Isabelle Thiffault, Michael C Kruer, Dolores Gonzales Moron, Marcelo Kauffman, Cyril Goizet, László Sztriha, Emma Glamuzina, Serge B Melançon, Sakkubai Naidu, Jean-Marc Retrouvey, Suzanne Lacombe, Beatriz Bernardino-Cuesta, Isabelle De Bie, Geneviève Bernard
Publikováno v:
Journal of Medical Genetics. :jmg-2023
BackgroundRNA polymerase III-related or 4H leukodystrophy (POLR3-HLD) is an autosomal recessive hypomyelinating leukodystrophy characterized by neurological dysfunction, hypodontia and hypogonadotropic hypogonadism. The disease is caused by biallelic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0d4df9637250501cc471a54e0491ff52
https://doi.org/10.1136/jmg-2023-109223
https://doi.org/10.1136/jmg-2023-109223
Autor:
María Jiménez Legido, Anna Duat Rodríguez, Nelmar Valentina Ortiz Cabrera, Juan José García Peñas, Verónica Cantarín Extremera, Bárbara Fernández Garoz, Beatriz Bernardino Cuesta
Publikováno v:
Molecular Syndromology. 12:25-32
Epileptic encephalopathy related to CACNA1E has been described as a severe neurodevelopmental disorder presenting with early-onset refractory seizures, hypotonia, macrocephaly, hyperkinetic movements, and contractures and is associated with an autoso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9a534b1e562fb2b15549276d979a457e
https://doi.org/10.1159/000511926
https://doi.org/10.1159/000511926
Autor:
Alberto García-Salido, María Luz Ruiz-Falcó-Rojas, Juan José García-Peñas, Inés Solís-Muñiz, Verónica Cantarín-Extremera, Beatriz Bernardino-Cuesta, María Jiménez-Legido, Víctor Soto-Insuga, Anna Duat-Rodríguez, Amelia Martínez-de-Azagra-Garde
Publikováno v:
European Journal of Paediatric Neurology. 27:60-66
Introduction Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome with typical clinical features including seizures, chronic hemiplegia, hemianopsia and intellectual impairment. Progressive clinical decline may be attributable, at least in part,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ea5df6ae26aa978e6a50fe73e86e174
https://doi.org/10.1016/j.ejpn.2020.04.006
https://doi.org/10.1016/j.ejpn.2020.04.006
Autor:
Victor Soto Insuga, Luis Gutiérrez Solana, Fernando Ferragut Ferretjans, Anna Duat Rodríguez, Marta Furones García, Verónica Cantarín Extremera, Juan José García Peñas, Maria-Luz Ruiz Falcó, Beatriz Bernardino Cuesta, María Jiménez Legido, Teresa Moreno Cantero, Elena González Alguacil
Publikováno v:
Epilepsy research. 177
Background and objectives To determine the efficacy, tolerance, and safety of BRV in children with epilepsy. Methods A retrospective study of patients with epilepsy who received treatment with BRV before age 16 years and underwent a minimum follow-up
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88d8500d82200c083b1dc218911ea19c
https://pubmed.ncbi.nlm.nih.gov/34530305
https://pubmed.ncbi.nlm.nih.gov/34530305
Autor:
Jamie K. Capal, Anna W. Byars, Nicole M. Bing, Donna S. Murray, Mustafa Sahin, Deborah A. Pearson, Darcy A. Krueger, Beatriz Bernardino-Cuesta, Paul S. Horn, Bridget Kent
Publikováno v:
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Objective Epilepsy is commonly seen in Tuberous Sclerosis Complex (TSC). The relationship between seizures and developmental outcomes has been reported, but few studies have examined this relationship in a prospective, longitudinal manner. The object
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a99bf2e81cd8fcb6804da44efb712a1
https://hdl.handle.net/20.500.12530/31990
https://hdl.handle.net/20.500.12530/31990
