Zobrazeno 1 - 10
of 120
pro vyhledávání: '"Tomás Ripoll"'
Autor:
Aina Gayà-Barroso, Juan González-Moreno, Adrián Rodríguez, Tomás Ripoll-Vera, Inés Losada-López, Margarita Gili, Milena Paneque, Sara Pérez-Martínez, Eugenia Cisneros-Barroso
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)
Abstract Background Hereditary transthyretin amyloidosis (ATTRv) is a rare genetic disease that negatively affects patients' quality of life through the involvement of various organs and tissues. Despite a large amount of research on medical and psyc
Externí odkaz:
https://doaj.org/article/7ecaeaeaa59e4f45be8fb91e15e07268
Autor:
Rocío Blanco, Yolanda Rico-Ramírez, Álvaro Hermida-Ameijeiras, Israa Mahmoud Sanad Abdullah, Kolja Lau, Jorge Alvarez-Rubio, Elena Fortuny, Amparo Martínez-Monzonís, Albina Nowak, Peter Nordbeck, Carlos Veras-Burgos, Jaume Pons-Llinares, Emiliano Rossi, Fiama Caimi-Martínez, Teresa Bosch-Rovira, Marta Alamar-Cervera, Virginia Ruiz-Pizarro, Laura Torres-Juan, Damian Heine-Suñer, Tomás Ripoll-Vera
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 8, p 4299 (2024)
The p.Arg301Gln variant in the α -galactosidase A gene (GLA) has been poorly described in the literature. The few reports show controversial information, with both classical and nonclassical Anderson–Fabry Disease (AFD) presentation patterns. The
Externí odkaz:
https://doaj.org/article/2f0e8a45e1a5487b9b0ecaab22b81f0c
Autor:
Rosario Sánchez, Tomás Ripoll-Vera, Manuel López-Mendoza, Joaquín de Juan-Ribera, Juan Ramón Gimeno, Álvaro Hermida, María Aurora Ruz-Zafra, José Vicente Torregrosa, Antonia Mora, José Manuel García-Pinilla, Elena Fortuny, Ana Aguinaga-Barrilero, Roser Torra
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Fabry disease (FD) is an X-linked condition caused by variants in the GLA gene. Since females have two X chromosomes, they were historically thought to be carriers. Although increased knowledge has shown that females often develop
Externí odkaz:
https://doaj.org/article/97d9b7378eee421696d9ada54b59aa94
Autor:
Juan R. Gimeno, Iacopo Olivotto, Ana Isabel Rodríguez, Carolyn Y. Ho, Adrián Fernández, Alejandro Quiroga, Mari Angeles Espinosa, Cristina Gómez‐González, María Robledo, Lucas Tojal‐Sierra, Sharlene M. Day, Anjali Owens, Roberto Barriales‐Villa, Jose María Larrañaga, Jose Rodríguez‐Palomares, Maribel González‐del‐Hoyo, Jesús Piqueras‐Flores, Nosheen Reza, Olga Chumakova, Euan A. Ashley, Victoria Parikh, Matthew Wheeler, Daniel Jacoby, Alexandre C. Pereira, Sara Saberi, Adam S. Helms, Eduardo Villacorta, María Gallego‐Delgado, Daniel deCastro, Fernando Domínguez, Tomás Ripoll‐Vera, Esther Zorio‐Grima, José Carlos Sánchez‐Martínez, Ana García‐Álvarez, Elena Arbelo, María Victoria Mogollón, María Eugenia Fuentes‐Cañamero, Elias Grande, Carlos Peña, Lorenzo Monserrat, Neal K. Lakdawala, Dilema International Cardiomyopathy and Heart Failure Registry and international SHaRe (Sarcomeric Human Cardiomyopathy Registry) Investigators group
Publikováno v:
ESC Heart Failure, Vol 9, Iss 4, Pp 2189-2198 (2022)
Abstract Aims To describe the natural history of SARS‐CoV‐2 infection in patients with hypertrophic cardiomyopathy (HCM) compared with a control group and to identify predictors of adverse events. Methods and results Three hundred and five patien
Externí odkaz:
https://doaj.org/article/91483f6a810740f68b374d86c8670633
Val50Met hereditary transthyretin amyloidosis: not just a medical problem, but a psychosocial burden
Autor:
Juan González-Moreno, Aina Gaya-Barroso, Inés Losada-López, Adrián Rodríguez, Teresa Bosch-Rovira, Tomás Ripoll-Vera, Mercedes Usón, Antoni Figuerola, Cristina Descals, Carles Montalà, María Asunción Ferrer-Nadal, Eugenia Cisneros-Barroso
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)
Abstract Background Hereditary transthyretin (TTR) amyloidosis (ATTRv) is a heterogeneous disease with a clinical presentation that varies according to geographical area and TTR mutation. The symptoms of Val50Met-ATTRv are mainly neuropathic and prog
Externí odkaz:
https://doaj.org/article/d74163ddd0f643278495d7688ff9e328
Autor:
Paula Morlanes-Gracia, Guido Antoniutti, Jorge Alvarez-Rubio, Laura Torres-Juan, Damian Heine-Suñer, Tomás Ripoll-Vera
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 8 (2021)
The NKX2-5 gene encodes for a transcription factor crucial for cardiac cell differentiation and proliferation. It was the first gene associated with congenital heart disease (CHD) in humans and has been linked to conduction disorders or cardiomyopath
Externí odkaz:
https://doaj.org/article/b905495d5aa342b4af447710524ba1fc
Autor:
Tomás Ripoll-Vera
Publikováno v:
Revista Española de Cardiología. 76:284-286
Autor:
Tomás, Ripoll-Vera
Publikováno v:
Revista Española de Cardiología (English Edition). 76:284-286
Autor:
Javier Limeres Freire, Jorge Álvarez Rubio, José González-Costello, Miguel Ángel Aibar Arregui, Xabier Arana Achaga, Mayte Basurte, Pablo García-Pavía, María Gallego-Delgado, María Teresa Bosch Rovira, María Valverde Gómez, Gonzalo Barge-Caballero, Juan Jiménez-Jáimez, en representación del Grupo de Investigadores AC-TTRv-España, Ana José Manovel Sánchez, José Manuel García-Pinilla, Juan Ramón Gimeno Blanes, Tomás Ripoll-Vera, Marina Martínez Moreno, Ana García-Álvarez, Idaira Famara Hernández Baldomero, Luis Miguel Rincón Díaz, Esther Zorio Grima, M. Ángeles Espinosa Castro
Publikováno v:
Revista Española de Cardiología. 75:488-495
Resumen Introduccion y objetivos La amiloidosis hereditaria por transtirretina (ATTRv) es una enfermedad causada por mutaciones en el gen de la transtirretina que frecuentemente presenta afeccion cardiaca debido al deposito de amiloide en el miocardi
Autor:
Miguel Ángel Aibar Arregui, Marina Martínez Moreno, Gonzalo Barge-Caballero, Javier Limeres Freire, Esther Zorio Grima, Pablo García-Pavía, María Valverde Gómez, María Teresa Bosch Rovira, Juan Jiménez-Jáimez, Mayte Basurte, Idaira Famara Hernández Baldomero, Luis Miguel Rincón Díaz, María Gallego-Delgado, Juan Ramón Gimeno Blanes, Ana García-Álvarez, M. Ángeles Espinosa Castro, Ana José Manovel Sánchez, Jorge Álvarez Rubio, José González-Costello, José Manuel García-Pinilla, Tomás Ripoll-Vera, Xabier Arana Achaga
Publikováno v:
REVISTA ESPANOLA DE CARDIOLOGIA
r-FISABIO. Repositorio Institucional de Producción Científica
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r-FISABIO. Repositorio Institucional de Producción Científica
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Introduction and objectives Hereditary transthyretin amyloidosis (hATTR) is a disease caused by mutations in the transthyretin gene that frequently shows cardiac involvement due to amyloid deposition in the myocardium. Our objective was to identify c