Zobrazeno 1 - 10 of 18 pro vyhledávání: '"Ana Victoria Marco Hernández"'
1
Akademický článek
Secuelas neurológicas en pacientes con infección congénita por citomegalovirus
Autor: Alba de Juan Gallach, Marta Alemany Albert, Ana Victoria Marco Hernández, Nuria Boronat González, María Cernada Badía, Miguel Tomás Vila
Publikováno v: Anales de Pediatría, Vol 93, Iss 2, Pp 111-117 (2020)
Resumen: Introducción: La infección por citomegalovirus es la infección congénita más frecuente en los países desarrollados y una de las principales causas de retraso psicomotor y sordera neurosensorial de origen infeccioso.El presente estudio
Externí odkaz: https://doaj.org/article/ee9b4dda961447b986970e18cf99a0db
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2
Akademický článek
Neurological sequelae in patients with congenital cytomegalovirus
Autor: Alba de Juan Gallach, Marta Alemany Albert, Ana Victoria Marco Hernández, Nuria Boronat González, María Cernada Badía, Miguel Tomás Vila
Publikováno v: Anales de Pediatría (English Edition), Vol 93, Iss 2, Pp 111-117 (2020)
Introduction: The infection due to cytomegalovirus is the most common congenital infection in developed countries, and one of the main causes of psychomotor impairment and neurosensory hearing loss of infectious origin.The present study has its objec
Externí odkaz: https://doaj.org/article/41916f3098044eb99ee170394ee9884f
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3
Akademický článek
Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature
Autor: Ana Victoria Marco Hernández, Miguel Tomás Vila, Alfonso Caro Llopis, Sandra Monfort, Francisco Martinez
Publikováno v: Frontiers in Neurology, Vol 12 (2021)
Dominant pathogenic variations in the SCN1A gene are associated with several neuro developmental disorders with or without epilepsy, including Dravet syndrome (DS). Conversely, there are few published cases with homozygous or compound heterozygous va
Externí odkaz: https://doaj.org/article/3195abfa2c1744379b4f8e683fa56303
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4
Extending the Phenotype Related to SCN1A Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development
Autor: Ana Victoria Marco-Hernández, Alfonso Caro-Llopis, Pilar Rubio Sánchez, Juan Carlos Martínez Martínez, Miguel Tomás Vila, Sandra Monfort, Francisco Martínez
Publikováno v: Journal of Child Neurology. 37:340-350
Background Expand the knowledge about the clinical phenotypes associated with pathogenic or likely pathogenic variants in the SCN1A gene. Methods The study was carried out in 15 patients with SCN1A variants. The complete phenotype of the patients was
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::80bfdd1e0b121c947deba31afb05a3e0
https://doi.org/10.1177/08830738211072694
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5
N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants
Autor: Sonia Mayo, Irene Gómez-Manjón, Ana Victoria Marco-Hernández, Francisco Javier Fernández-Martínez, Ana Camacho, Francisco Martínez
Publikováno v: International Journal of Molecular Sciences. 24:6100
N-type voltage-gated calcium channel controls the release of neurotransmitters from neurons. The association of other voltage-gated calcium channels with epilepsy is well-known. The association of N-type voltage-gated calcium channels and pain has al
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a374ef97cb88f5d1c836503983c3b528
https://doi.org/10.3390/ijms24076100
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6
Hidden etiology of cerebral palsy: genetic and clinical heterogeneity and efficient diagnosis by next-generation sequencing
Autor: Sandra Monfort, Marta Alemany-Albert, Miguel Tomás, Francisco Martínez, Silvestre Oltra, Laia Pedrola, Alfonso Caro-Llopis, Carmen Orellana, Mónica Roselló, Ana Victoria Marco-Hernández
Publikováno v: Pediatric Research. 90:284-288
Cerebral palsy (CP) is a heterogeneous neurodevelopmental disorder that causes movement and postural disabilities. Recent research studies focused on genetic diagnosis in patients with CP of unknown etiology. The present study was carried out in 20 f
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05994b58a879b170079b001a19263f3c
https://doi.org/10.1038/s41390-020-01250-3
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7
Neurological sequelae in patients with congenital cytomegalovirus
Autor: Nuria Boronat González, Marta Alemany Albert, Alba de Juan Gallach, María Cernada Badía, Miguel Tomás Vila, Ana Victoria Marco Hernández
Publikováno v: Anales de Pediatría (English Edition), Vol 93, Iss 2, Pp 111-117 (2020)
Introduction: The infection due to cytomegalovirus is the most common congenital infection in developed countries, and one of the main causes of psychomotor impairment and neurosensory hearing loss of infectious origin.The present study has its objec
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d4d394afe6500c13661d440dfb66062
https://doi.org/10.1016/j.anpede.2019.12.004
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9
Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability
Autor: Beatriz Beseler Soto, Francisco Martínez, Alejandro Montoya Filardi, Juan Jose Nieto-Barcelo, Ana Victoria Marco Hernández, Alfonso Caro, Miguel Tomás Vila, Sandra Monfort
Publikováno v: American journal of medical genetics. Part AREFERENCES. 188(1)
Mutations in SPTAN1 gene, encoding the nonerythrocyte αII-spectrin, are responsible for a severe developmental and epileptic encephalopathy (DEE5) and a wide spectrum of neurodevelopmental disorders, as epilepsy with or without intellectual disabili
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59bd96cb4b3b3ffd285284fe1e2a5904
https://pubmed.ncbi.nlm.nih.gov/34590414
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10
Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab
Autor: Juan Antonio Cerón, Ana Victoria Marco-Hernández, Yanick J. Crow, Francisco Martínez-Castellano, Jesús José Ferre-Fernández, Laia Pedrola, Miguel Tomás-Vila, Marina Martinez-Matilla, María José Aparisi
Publikováno v: PEDIATRIC NEUROLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Martínez-Matilla, M, Ferre-Fernández, J J, Aparisi, M J, Marco-Hernández, A V, Cerón, J A, Crow, Y J, Martínez-Castellano, F, Tomas Vila, M & Pedrola, L 2020, ' Apparent radiological improvement in an infant with Labrune syndrome treated with bevacizumab ', Pediatric Neurology . https://doi.org/10.1016/j.pediatrneurol.2020.07.011
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ce50971fa4e89acc20ee7d420fea3e6
https://doi.org/10.1016/j.pediatrneurol.2020.07.011
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