Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Alfredo Cerisola"'
Autor:
Federico Baltar, Camila Simoes, Francisco Garagorry, Martín Graña, Soledad Rodríguez, María Haydée Aunchayna, Alejandra Tapié, Alfredo Cerisola, Gabriel González, Hugo Naya, Lucía Spangenberg, Víctor Raggio
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
BackgroundNeuronal Ceroid Lipofuscinosis (NCL) disorders, recognized as the primary cause of childhood dementia globally, constitute a spectrum of genetic abnormalities. CLN8, a subtype within NCL, is characterized by cognitive decline, motor impairm
Externí odkaz:
https://doaj.org/article/9452342d8bfa40aea42e7d1bccdf59a3
Autor:
Víctor Raggio, Martín Graña, Erik Winiarski, Santiago Mansilla, Camila Simoes, Soledad Rodríguez, Mariana Brandes, Alejandra Tapié, Laura Rodríguez, Lucía Cibils, Martina Alonso, Jennyfer Martínez, Tamara Fernández-Calero, Fernanda Domínguez, Melania Rosas Mezquida, Laura Castro, Alfredo Cerisola, Hugo Naya, Adriana Cassina, Celia Quijano, Lucía Spangenberg
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-13 (2023)
Abstract The SPATA5 gene encodes a 892 amino-acids long protein that has a putative mitochondrial targeting sequence and has been proposed to function in maintenance of mitochondrial function and integrity during mouse spermatogenesis. Several studie
Externí odkaz:
https://doaj.org/article/f35c45e2195e44afad8c9bf9a1ead789
Autor:
Ricardo Silvariño, Federico Preve, José Minarrieta, Marina Rodriguez, Martín Rebella, Julio Trostchansky, Adriana Peveroni, Alfredo Cerisola, Walter Pérez, Oscar Noboa, Francisco González-Martínez
Publikováno v:
Revista Médica del Uruguay, Vol 37, Iss 4 (2021)
La recertificación es el resultado de un acto por el que una entidad legalmente acreditada, asegura que el profesional médico (previamente certificado) mantiene actualizados sus conocimientos y destrezas, y que ha desarrollado su actividad dentro d
Externí odkaz:
https://doaj.org/article/0f858016d26c4df49b91a4cf119f1a2b
Autor:
Alfredo Cerisola, Maite Borderre, Facundo Carranza, Camilo Cuadro, Sofía Cures, Lucía Quintela, Micaela Vázquez, Elizabeth Suárez, Ligia Bacchetta
Publikováno v:
Revista Médica del Uruguay, Vol 37, Iss 3 (2021)
Introducción: la parálisis cerebral (PC) es la causa más frecuente de discapacidad motriz en niños y adolescentes. En el 85% de los casos, la manifestación motora predominante es la espasticidad. Las inyecciones de toxina botulínica tipo A (TB-
Externí odkaz:
https://doaj.org/article/60938b6c02124f39a858fb13a64752d6
Autor:
Natalia Hernández Antúnez, Claudia González, Alfredo Cerisola, Daniela Casamayou, Graciela Barros, Laura De Castellet, Teresa Camarot
Publikováno v:
Revista Médica del Uruguay, Vol 31, Iss 1, Pp 27-31 (2015)
Introducción: la artrogriposis múltiple congénita (AMC) comprende a un grupo heterogéneo de trastornos congénitos caracterizados por deformidades con contracturas articulares múltiples. Objetivo: describir las características demográficas, cl
Externí odkaz:
https://doaj.org/article/9c1b02fa554840c3be9b0cfed2a766ff
Autor:
Hugo Naya, Laureana De Brun, Jennyfer Martínez, Martín Graña, Cecilia Acosta, Martina Alonso, Alfredo Cerisola, Gabriela Rivas, Lucía Spangenberg, Celia Quijano, Santiago Mansilla, R. Puentes, Daniela Lens, Aída Lemes, Laura Castro, Víctor Raggio, Cristina Zabala, Mariela Garau
Publikováno v:
Mitochondrion. 61:31-43
Human mitochondrial diseases are a group of heterogeneous diseases caused by defects in oxidative phosphorylation, due to mutations in mitochondrial (mtDNA) or nuclear DNA. The diagnosis of mitochondrial disease is challenging since mutations in mult
Publikováno v:
Medicina (Buenos Aires), Vol 79, Iss Suppl 3, Pp 10-14 (2019)
Preterm birth is one of the main country health indicators. It is associated with high mortality and significant morbidity in preterm newborns with cerebral palsy and potential long-term neurodevelopmental disabilities like cognitive and learning pro
Autor:
Maria Acosta, Arushi Gahlot Saini, Douglas Postels, Marco Medina, Alfredo Cerisola, Pratibha Singhi
Publikováno v:
Journal of the International Child Neurology Association. 1
Neuroinfectious diseases continue to have a profound public health impact, particularly in resource-limited settings. Here we summarize the new research into pathophysiology, diagnosis, and treatment modalities for some of the most frequent and letha
Autor:
Alfredo Cerisola
Publikováno v:
Archivos de Pediatría del Uruguay, Volume: 90, Issue: 1, Pages: 25-28, Published: FEB 2019
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::083a42f24fccb1fed9badf2846af7c5f
http://www.scielo.edu.uy/scielo.php?script=sci_arttext&pid=S1688-12492019000100025&lng=en&tlng=en
http://www.scielo.edu.uy/scielo.php?script=sci_arttext&pid=S1688-12492019000100025&lng=en&tlng=en
Publikováno v:
Medicina. 78
A febrile seizure occurs in association with fever in a child aged 6 to 60 months, without central nervous system infection or other known cause of acute seizures in a child without a prior history of afebrile seizures. Febrile seizures occur in abou