Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Alejandra Tapié"'
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:
Camila Simoes, Martín Graña, Soledad Rodriguez, Federico Baltar Yanes, Alejandra Tapié, Nicolás Dell’Oca, Hugo Naya, Víctor Raggio, Lucía Spangenberg
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-8 (2022)
Abstract Background Lissencephaly (LIS) is a cortical malformation, characterized by smooth or nearly smooth cerebral surface and a shortage of gyral and sulcal development, which is caused by deficient neuronal migration during embryogenesis. Neuron
Externí odkaz:
https://doaj.org/article/e209cb2804a646d3b38658e075a78ca2
Autor:
Cecilia Moreira, Gabriel Dapueto, Gabriel Peluffo, Alejandra Vomero, Alejandra Tapié, Soledad Rodríguez, Victor Raggio, Rodrigo Suárez, Gustavo Giachetto, Loreley García
Publikováno v:
Boletín Médico del Hospital Infantil de México, Vol 80, Iss 1 (2023)
Background: Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disease affecting connective tissue, primarily caused by de novo mutations of the ACVR1 gene. FOP is a disease with congenital malformations of the toes and heteroto
Externí odkaz:
https://doaj.org/article/05c5ef57d0d74200b9e1c2dbc27cc702
Autor:
Víctor Raggio, Nicolas Dell’Oca, Camila Simoes, Alejandra Tapié, Conrado Medici, Gonzalo Costa, Soledad Rodriguez, Gonzalo Greif, Estefania Garrone, María Laura Rovella, Virgina Gonzalez, Margarita Halty, Gabriel González, Jong-Yeon Shin, Sang-Yoon Shin, Changhoon Kim, Jeong-Sun Seo, Martin Graña, Hugo Naya, Lucia Spangenberg
Publikováno v:
Human Genomics, Vol 15, Iss 1, Pp 1-9 (2021)
Abstract Background Rare diseases are pathologies that affect less than 1 in 2000 people. They are difficult to diagnose due to their low frequency and their often highly heterogeneous symptoms. Rare diseases have in general a high impact on the qual
Externí odkaz:
https://doaj.org/article/08b04bba944b49f68cb837b2d586bf94
Publikováno v:
Anales de la Facultad de Medicina, Vol 8, Iss 2, Pp e402-e402 (2021)
La Retinosquisis ligada al X, que se presenta fundamentalmente en varones, es una enfermedad genética caracterizada por agudeza visual reducida debido a degeneración macular. Su prevalencia es de 1/5000 varones en todo el mundo. Se manifiesta desde
Externí odkaz:
https://doaj.org/article/9f857be4db164ac2a0766a1f975e1f41
Autor:
Lucía Spangenberg, Rosario Guecaimburú, Alejandra Tapié, Susana Vivas, Soledad Rodríguez, Martín Graña, Hugo Naya, Víctor Raggio
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)
Abstract Background The etiology of many genetic diseases is challenging. This is especially true for developmental disorders of the central nervous system, since several genes can be involved. Many of such pathologies are considered rare diseases, s
Externí odkaz:
https://doaj.org/article/b48c21544e2d4df2996f1aeabfa70ca4
Autor:
Sang-Yoon Shin, Camila Simoes, Lucía Spangenberg, Alejandra Tapié, Gabriel González, Víctor Raggio, Margarita Halty, Gonzalo Greif, Hugo Naya, Changhoon Kim, Jong-Yeon Shin, Nicolás Dell’Oca, Virgina Gonzalez, Estefania Garrone, Martín Graña, María Laura Rovella, Conrado Medici, Jeong-Sun Seo, Gonzalo Costa, Soledad Rodríguez
Publikováno v:
Human Genomics
REDI
Institut Pasteur de Montevideo
instacron:Institut Pasteur de Montevideo
Human Genomics, Vol 15, Iss 1, Pp 1-9 (2021)
REDI
Institut Pasteur de Montevideo
instacron:Institut Pasteur de Montevideo
Human Genomics, Vol 15, Iss 1, Pp 1-9 (2021)
Background Rare diseases are pathologies that affect less than 1 in 2000 people. They are difficult to diagnose due to their low frequency and their often highly heterogeneous symptoms. Rare diseases have in general a high impact on the quality of li
Autor:
Víctor Raggio, Susana Vivas, Martín Graña, Rosario Gueçaimburú, Hugo Naya, Alejandra Tapié, Lucía Spangenberg, Soledad Rodríguez
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background The etiology of many genetic diseases is challenging. This is especially true for developmental disorders of the central nervous system, since several genes can be involved. Many of such pathologies are considered rare diseases, since they
Autor:
Natalia Pi-Denis, Lucía Pastro, Gabriel Peluffo, Nicolás Curbelo, Alejandra Vomero, Leda Roche, María Boidi, Víctor Raggio, Martin Ciganda, Alejandra Tapié, Jorge Souto
Publikováno v:
COLIBRI
Universidad de la República
instacron:Universidad de la República
Clinical Case Reports
Universidad de la República
instacron:Universidad de la República
Clinical Case Reports
Key Clinical Message Mutations in ARX gene should be considered in patients with mental disability or/and epilepsy. It is an X‐linked gene that has pleiotropic effects. Here, we report the case of a boy diagnosed with Ohtahara syndrome. We performe