Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Raquel Ruiz-Garcia"'
Autor:
Ellen Gelpi, Simone Baiardi, Carlos Nos, Sofia Dellavalle, Iban Aldecoa, Raquel Ruiz-Garcia, Lourdes Ispierto, Domingo Escudero, Virgina Casado, Elena Barranco, Anuncia Boltes, Laura Molina-Porcel, Nuria Bargalló, Marcello Rossi, Angela Mammana, Dorina Tiple, Luana Vaianella, Elisabeth Stoegmann, Ingrid Simonitsch-Klupp, Gregor Kasprian, Sigrid Klotz, Romana Höftberger, Herbert Budka, Gabor G. Kovacs, Isidre Ferrer, Sabina Capellari, Raquel Sanchez-Valle, Piero Parchi
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-12 (2022)
Abstract The methionine (M)—valine (V) polymorphic codon 129 of the prion protein gene (PRNP) plays a central role in both susceptibility and phenotypic expression of sporadic Creutzfeldt-Jakob diseases (sCJD). Experimental transmissions of sCJD in
Externí odkaz:
https://doaj.org/article/d310e6cc11d5446fb8eb02e9f459610b
Autor:
Maria J. Recio, Nerea Dominguez-Pinilla, Melina Soledad Perrig, Carmen Rodriguez Vigil-Iturrate, Nerea Salmón-Rodriguez, Cristina Martinez Faci, María J. Castro-Panete, Javier Blas-Espada, Marta López-Nevado, Raquel Ruiz-Garcia, Rebeca Chaparro-García, Luis M. Allende, Luis Ignacio Gonzalez-Granado
Publikováno v:
Frontiers in Immunology, Vol 9 (2019)
Cernunnos/XLF deficiency is a rare primary immunodeficiency classified within the DNA repair defects. Patients present with severe growth retardation, microcephaly, lymphopenia and increased cellular sensitivity to ionizing radiation. Here, we descri
Externí odkaz:
https://doaj.org/article/60b1ef43446645559d00f8c2778e5f28
Autor:
Elianet Fonseca, Jose Maria Cabrera Maqueda, Raquel Ruiz-Garcia, Laura Naranjo, Yolanda Blanco Morgado, Josep Dalmau, Francesc Graus, Eugenia Martinez-Hernandez
Publikováno v:
Monday, April 24.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6e6b470e9204bbfe7f9e107ed0b312d2
https://doi.org/10.1212/wnl.0000000000203001
https://doi.org/10.1212/wnl.0000000000203001
Autor:
Núria Guillén, Agnès Pérez-Millan, Neus Falgàs, Gema M. Lledó-Ibáñez, Lorena Rami, Jordi Sarto, Maria A. Botí, Cristina Arnaldos-Pérez, Raquel Ruiz-García, Laura Naranjo, Bàrbara Segura, Mircea Balasa, Roser Sala-Llonch, Albert Lladó, Sarah M. Gray, Jason K. Johannesen, Madeline M. Pantoni, Grant A. Rutledge, Ruta Sawant, Yi Wang, Luke S. Watson, Josep Dalmau, Raquel Sanchez-Valle
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-14 (2024)
Abstract We aimed to characterize the cognitive profile of post-acute COVID-19 syndrome (PACS) patients with cognitive complaints, exploring the influence of biological and psychological factors. Participants with confirmed SARS-CoV-2 infection and c
Externí odkaz:
https://doaj.org/article/f8a39d750cda4624bdd26df71733cc8f
Autor:
Pablo Rábano-Suárez, Eugenia Martinez Hernandez, Lidia Sabater, Fernando Ostos-Moliz, Alejandro Herrero San Martin, Daniel Toledo Alfocea, Laura Naranjo, Carla Amarante Cuadrado, Maialen Gonzalez Arbizu, Raquel Ruiz Garcia
Publikováno v:
Neurology. 97(6)
A 58-year-old man presented with 1 month subacute onset of instability, oscillopsia, vertigo, nausea, and vomiting. Neurologic examination revealed gaze-evoked and prominently downbeat nystagmus, left eyelid ptosis, and gait cerebellar ataxia (Videos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab062c278b4fbdc9149ea6f7d9d84c30
https://pubmed.ncbi.nlm.nih.gov/34031206
https://pubmed.ncbi.nlm.nih.gov/34031206
Autor:
Maria J. Recio, Nerea Dominguez-Pinilla, Melina Soledad Perrig, Carmen Rodriguez Vigil-Iturrate, Nerea Salmón-Rodriguez, Cristina Martinez Faci, María J. Castro-Panete, Javier Blas-Espada, Marta López-Nevado, Raquel Ruiz-Garcia, Rebeca Chaparro-García, Luis M. Allende, Luis Ignacio Gonzalez-Granado
Publikováno v:
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Frontiers in Immunology, Vol 9 (2019)
Frontiers in Immunology
Consejería de Sanidad de la Comunidad de Madrid
Frontiers in Immunology, Vol 9 (2019)
Frontiers in Immunology
Cernunnos/XLF deficiency is a rare primary immunodeficiency classified within the DNA repair defects. Patients present with severe growth retardation, microcephaly, lymphopenia and increased cellular sensitivity to ionizing radiation. Here, we descri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8838515a42a1b896684497796198a7b8
https://hdl.handle.net/20.500.12530/34283
https://hdl.handle.net/20.500.12530/34283
Akademický článek
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Autor:
Cristina Arnaldos-Pérez, Andreu Vilaseca, Laura Naranjo, Lidia Sabater, Josep Dalmau, Raquel Ruiz-García, Francesc Graus
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
SOX1 antibodies (SOX1-abs) are associated with paraneoplastic neurological syndromes (PNS) and small cell lung cancer (SCLC). In many clinical laboratories SOX1-abs are determined by commercial line blots without confirmation by cell-based assay (CBA
Externí odkaz:
https://doaj.org/article/1140f049d5ca4f9e838ba96d8dc5f7f2
Autor:
Guillermo Muñoz-Sánchez, Jesús Planagumà, Laura Naranjo, Rocío Couso, Lidia Sabater, Mar Guasp, Eugenia Martínez-Hernández, Francesc Graus, Josep Dalmau, Raquel Ruiz-García
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
Detection of Leucine-rich glioma inactivated 1 (LGI1) antibodies in patients with suspected autoimmune encephalitis is important for diagnostic confirmation and prompt implementation of immunomodulatory treatment. However, the clinical laboratory dia
Externí odkaz:
https://doaj.org/article/3d040088d69c41368250a0da1f770843
Autor:
Teresa Ximelis, Alba Marín-Moreno, Juan Carlos Espinosa, Hasier Eraña, Jorge M. Charco, Isabel Hernández, Carmen Riveira, Daniel Alcolea, Eva González-Roca, Iban Aldecoa, Laura Molina-Porcel, Piero Parchi, Marcello Rossi, Joaquín Castilla, Raquel Ruiz-García, Ellen Gelpi, Juan María Torres, Raquel Sánchez-Valle
Publikováno v:
Alzheimer’s Research & Therapy, Vol 13, Iss 1, Pp 1-13 (2021)
Abstract Background More than 40 pathogenic heterozygous PRNP mutations causing inherited prion diseases have been identified to date. Recessive inherited prion disease has not been described to date. Methods We describe the clinical and neuropatholo
Externí odkaz:
https://doaj.org/article/b9c9bc10cfc34c4daf0749b1769b7f52