Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Rosario Domingo Jiménez"'
Autor:
Alba Tristán‐Noguero, Irene Fernández‐Carasa, Carles Calatayud, Cristina Bermejo‐Casadesús, Meritxell Pons‐Espinal, Arianna Colini Baldeschi, Leticia Campa, Francesc Artigas, Analia Bortolozzi, Rosario Domingo‐Jiménez, Salvador Ibáñez, Mercè Pineda, Rafael Artuch, Ángel Raya, Àngels García‐Cazorla, Antonella Consiglio
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 3, Pp 1-15 (2023)
Abstract Tyrosine hydroxylase deficiency (THD) is a rare genetic disorder leading to dopaminergic depletion and early‐onset Parkinsonism. Affected children present with either a severe form that does not respond to L‐Dopa treatment (THD‐B) or a
Externí odkaz:
https://doaj.org/article/e22ef144c32047569cfc1dd967018c9c
Autor:
María José Sánchez-Soler, Vanesa López-González, María Juliana Ballesta-Martínez, Jorge Gálvez- Pradillo, Rosario Domingo-Jiménez, Virgina Pérez-Fernández, Encarna Guillén-Navarro
Publikováno v:
Anales de Pediatría (English Edition), Vol 92, Iss 4, Pp 200-207 (2020)
Introduction: More than five million children have been conceived by assisted reproductive techniques (ART) around the world. Most authors agree that there are no differences in psychomotor development in comparison to naturally conceived children. H
Externí odkaz:
https://doaj.org/article/a98ad128edea45f7b7f5372dedbe33c9
Autor:
Alejandro Ruiz-Riquelme, Sofía Sánchez-Iglesias, Alberto Rábano, Encarna Guillén-Navarro, Rosario Domingo-Jiménez, Adriana Ramos, Isaac Rosa, Ana Senra, Peter Nilsson, Ángel García, David Araújo-Vilar, Jesús R. Requena
Publikováno v:
Neurobiology of Disease, Vol 83, Iss , Pp 44-53 (2015)
Celia's Encephalopathy (MIM #615924) is a recently discovered fatal neurodegenerative syndrome associated with a new BSCL2 mutation (c.985C>T) that results in an aberrant isoform of seipin (Celia seipin). This mutation is lethal in both homozygosity
Externí odkaz:
https://doaj.org/article/0eeb5282a371446a80ac9d94445bca0a
Autor:
Sofía Sánchez-Iglesias, Alexander Unruh-Pinheiro, Cristina Guillín-Amarelle, Blanca González-Méndez, Alejandro Ruiz-Riquelme, Blanca Leticia Rodríguez-Cañete, Silvia Rodríguez-García, Encarnación Guillén-Navarro, Rosario Domingo-Jiménez, David Araújo-Vilar
Publikováno v:
PLoS ONE, Vol 11, Iss 7, p e0158874 (2016)
PELD (Progressive Encephalopathy with or without Lipodystrophy or Celia's Encephalopathy) is a fatal and rare neurodegenerative syndrome associated with the BSCL2 mutation c.985C>T, that results in an aberrant transcript without the exon 7 (Celia sei
Externí odkaz:
https://doaj.org/article/f1ab8f95bec942f2a420271d3e3b8676
Autor:
Alba Tristán-Noguero, Irene Fernández-Carasa, Carles Calatayud, Cristina Bermejo-Casadesús, Leticia Campa, Francesc Artigas, Rosario Domingo-Jiménez, Salvador Ibáñez, Mercè Pineda, Rafael Artuch, Ángel Raya, Àngels García-Cazorla, Antonella Consiglio
Tyrosine hydroxylase deficiency (THD) is a rare genetic disorder leading to dopaminergic depletion and early-onset parkinsonism. Affected children present with either a severe form that does not respond to L-Dopa treatment (THD-B), or a milder L-Dopa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e96a114a0eb0153f2809ee6ccfd0b606
https://doi.org/10.1101/2022.02.24.481741
https://doi.org/10.1101/2022.02.24.481741
Autor:
Chiara Alfonsi, Christian Stephan-Otto, Elisenda Cortès-Saladelafont, Natalia Juliá Palacios, Inés Podzamczer-Valls, Nuria Gutiérrez Cruz, María Rosario Domingo Jiménez, Salvador Ibáñez Micó, Miguel Tomás Vila, Kathrin Jeltsch, Oya Kuseyri Hübschmann, Thomas Opladen, Ramón Velázquez Fragua, Teresa Gómez, Oscar Alcoverro Fortuny, Inmaculada García Jiménez, Eduardo López Laso, Ana Roche Martínez, Jordi Muchart López, Àngels Garcia-Cazorla
Publikováno v:
Neuroradiology
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
PURPOSE: Inborn errors of neurotransmitters are rare monogenic diseases. In general, conventional neuroimaging is not useful for diagnosis. Nevertheless, advanced neuroimaging techniques could provide novel diagnosis and prognosis biomarkers. We aim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0092aa4fe206f265d43455c6ac0bdecd
https://hdl.handle.net/11573/1670737
https://hdl.handle.net/11573/1670737
Autor:
David Araújo-Vilar, Sofía Sánchez-Iglesias, Jesús R. Requena, Silvia Cobelo-Gómez, Antía Fernández-Pombo, Alejandro Iván Ruíz Riquelme, Rosario Domingo-Jiménez, Álvaro Hermida-Ameijeiras, Alarcón-Martínez H
Publikováno v:
Journal of Clinical Medicine
Journal of Clinical Medicine 10(7), 1435 (2021). doi:10.3390/jcm10071435 special issue: "Infrequent Lipodystrophies: Challenges in Pathogenesis, Diagnosis and Treatment"
Minerva: Repositorio Institucional de la Universidad de Santiago de Compostela
Universidad de Santiago de Compostela (USC)
Journal of Clinical Medicine, Vol 10, Iss 1435, p 1435 (2021)
Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
instname
Journal of Clinical Medicine 10(7), 1435 (2021). doi:10.3390/jcm10071435 special issue: "Infrequent Lipodystrophies: Challenges in Pathogenesis, Diagnosis and Treatment"
Minerva: Repositorio Institucional de la Universidad de Santiago de Compostela
Universidad de Santiago de Compostela (USC)
Journal of Clinical Medicine, Vol 10, Iss 1435, p 1435 (2021)
Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
instname
Seipin, encoded by the BSCL2 gene, is a protein that in humans is expressed mainly in the central nervous system. Uniquely, certain variants in BSCL2 can cause both generalized congenital lipodystrophy type 2, upper and/or lower motor neuron diseases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::accd4f7d6fbb13f893cf417d6fa1da16
https://pubmed.ncbi.nlm.nih.gov/33916074
https://pubmed.ncbi.nlm.nih.gov/33916074
Autor:
Martínez-Salcedo E, Lourdes Ceán-Cabrera, Elena Martínez-Cayuelas, Rosario Domingo-Jiménez, Alarcón-Martínez H, Salvador Ibáñez-Micó
Publikováno v:
Anales de Pediatría (English Edition), Vol 86, Iss 6, Pp 329-336 (2017)
Background: Training in autistic spectrum disorders is crucial in order to achieve an early diagnosis. However, the number of papers describing this training is limited. This study describes the level of knowledge among paediatricians from tertiary c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf556dece9557734ded2b808fd0db806
http://www.sciencedirect.com/science/article/pii/S2341287917300789
http://www.sciencedirect.com/science/article/pii/S2341287917300789
Autor:
Angels García-Cazorla, Melissa Crocker, Miguel Garrido-Pumar, Antonio Rodríguez-Núñez, Rosario Domingo-Jiménez, Julián Álvarez-Escudero, Ana I. Castro, Pablo Aguiar, Álvaro Ruibal, Antía Fernández-Pombo, Rebecca J. Brown, David Araújo-Vilar, Sofía Sánchez-Iglesias, Mar O'Callaghan, Alejandra Darling
Publikováno v:
Neurogenetics
Celia’s encephalopathy (Progressive Encephalopathy with/without Lipodystrophy, PELD) is a childhood neurodegenerative disorder with a fatal prognosis before the age of 10, due to the variant c.985C>T in the BSCL2 gene that causes a cryptic splicing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c78324c059181ab3aedec5b42e06f6ff
https://europepmc.org/articles/PMC7288395/
https://europepmc.org/articles/PMC7288395/
Autor:
Andrea Campo, Rosa Navarrete, Mónica Ruiz-Pons, Lucía Martín‐Viota, Celia Medrano, M. Luz Couce, M. Luisa Girós, Luis González-Gutiérrez-Solana, Ignacio Arroyo, M. Jesús Ecay, M. Rosario Domingo‐Jiménez, Celia Pérez-Cerdá, Inmaculada García-Jiménez, Rocío Calvo, Loreto Hierro, Ana I. Vega, Magdalena Ugarte, Susana Roldán, Belén Pérez, M. Teresa García-Silva, Francisco Mártinez‐Bugallo, Dirk Lefeber, J. Cabrera, Miguel Tomás, Mercedes Serrano Gimare, Elena Martín-Hernández, Samuel I. Pascual, Laura Toledo, Isidro Vitoria-Miñana, Mercedes Martínez-Pardo
Publikováno v:
Clinical Genetics, 95, 5, pp. 615-626
CLINICAL GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Clinical Genetics, 95, 615-626
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
CLINICAL GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Clinical Genetics, 95, 615-626
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
The congenital disorders of glycosylation (CDG) are defects in glycoprotein and glycolipid glycan synthesis and attachment. They affect multiple organ/systems, but non-specific symptoms render the diagnosis of the different CDG very challenging. Phos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d246b2c5b6da0c6a3a3f9035627572c8
https://hdl.handle.net/2066/203306
https://hdl.handle.net/2066/203306