Zobrazeno 1 - 10
of 251
pro vyhledávání: '"Montserrat, Ruiz"'
Autor:
Lars Mohren, Friedrich Erdlenbruch, Elsa Leitão, Fabian Kilpert, G. Sebastian Hönes, Sabine Kaya, Christopher Schröder, Andreas Thieme, Marc Sturm, Joohyun Park, Agatha Schlüter, Montserrat Ruiz, Moisés Morales de la Prida, Carlos Casasnovas, Kerstin Becker, Ulla Roggenbuck, Sonali Pechlivanis, Frank J. Kaiser, Matthis Synofzik, Thomas Wirth, Mathieu Anheim, Tobias B. Haack, Paul J. Lockhart, Karl-Heinz Jöckel, Aurora Pujol, Stephan Klebe, Dagmar Timmann, Christel Depienne
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Abstract Repeat expansions in FGF14 cause autosomal dominant late-onset cerebellar ataxia (SCA27B) with estimated pathogenic thresholds of 250 (incomplete penetrance) and 300 AAG repeats (full penetrance), but the sequence of pathogenic and non-patho
Externí odkaz:
https://doaj.org/article/6570a285e9844430857f2e885f205ade
Autor:
Jaime Barrio-Cortes, María Pilar Mateos-Carchenilla, María Martínez-Cuevas, María Teresa Beca-Martínez, Elvira Herrera-Sancho, María Carmen López-Rodríguez, María Ángeles Jaime-Sisó, Montserrat Ruiz-López
Publikováno v:
BMC Endocrine Disorders, Vol 24, Iss 1, Pp 1-13 (2024)
Abstract Background People with diabetes mellitus frequently have other comorbidities and involve greater use of primary and hospital care services. The aim of this study was to describe the comorbidities and use of primary and hospital care services
Externí odkaz:
https://doaj.org/article/7504977ca95a4cc981f300f4cc51f4f4
Autor:
Wael Yaghmoor, Montserrat Ruiz-Torruella, Yumi Ogata, Zuhair S. Natto, Matthew Finkelman, Toshi Kawai, Yong Hur
Publikováno v:
Saudi Dental Journal, Vol 36, Iss 3, Pp 492-497 (2024)
Background: Although the role of chlorhexidine and other mouthwashes in periodontal therapy has been elucidated, little information is available on their use as routine preoperative mouth rinses before surgery, especially in periodontal procedures su
Externí odkaz:
https://doaj.org/article/4e8126c87c154b2c99cef081a8becec1
Autor:
Agatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, Agustí Rodríguez-Palmero, Montserrat Ruiz, Stéphane Fourcade, Laura Planas-Serra, Nathalie Launay, Cristina Guilera, Juan José Martínez, Christian Homedes-Pedret, M. Antonia Albertí-Aguiló, Miren Zulaika, Itxaso Martí, Mónica Troncoso, Miguel Tomás-Vila, Gemma Bullich, M. Asunción García-Pérez, María-Jesús Sobrido-Gómez, Eduardo López-Laso, Carme Fons, Mireia Del Toro, Alfons Macaya, HSP/ataxia workgroup, Sergi Beltran, Luis G. Gutiérrez-Solana, Luis A. Pérez-Jurado, Sergio Aguilera-Albesa, Adolfo López de Munain, Carlos Casasnovas, Aurora Pujol
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-19 (2023)
Abstract Background Whole-exome sequencing (WES) and whole-genome sequencing (WGS) have become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there is still an urgent need for sensitive, fast algorithms to maximise WES/
Externí odkaz:
https://doaj.org/article/2dfa1e8234864677aabd2a18c1c7242e
Akademický článek
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Autor:
Nathalie Launay, Montserrat Ruiz, Laura Planas-Serra, Edgard Verdura, Agustí Rodríguez-Palmero, Agatha Schlüter, Leire Goicoechea, Cristina Guilera, Josefina Casas, Felix Campelo, Emmanuelle Jouanguy, Jean-Laurent Casanova, Odile Boespflug-Tanguy, Maria Vazquez Cancela, Luis González Gutiérrez-Solana, Carlos Casasnovas, Estela Area-Gomez, Aurora Pujol
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 14 (2023)
The Rad50 interacting protein 1 (Rint1) is a key player in vesicular trafficking between the ER and Golgi apparatus. Biallelic variants in RINT1 cause infantile-onset episodic acute liver failure (ALF). Here, we describe 3 individuals from 2 unrelate
Externí odkaz:
https://doaj.org/article/acc98cdd521c4feb9a2e50e1be116f80
Autor:
Paula Mascarell, Alba de la Rica, Sergio Padilla, Montserrat Ruiz-García, José López-Escudero, Javier García-Abellán, Ángela Botella, Mar Masiá, Félix Gutiérrez
Publikováno v:
BMC Infectious Diseases, Vol 22, Iss 1, Pp 1-4 (2022)
Abstract Background Mycobacterium africanum is a member of the Mycobacterium tuberculosis complex (MTBC) and is endemic in West Africa, where it causes up to half of all cases of pulmonary tuberculosis. Here, we report the first isolation of Mycobact
Externí odkaz:
https://doaj.org/article/443c081dcec243df97315ab2cc87197d
Autor:
Laura Planas-Serra, Nathalie Launay, Leire Goicoechea, Bénédicte Heron, Cristina Jou, Natalia Juliá-Palacios, Montserrat Ruiz, Stéphane Fourcade, Carlos Casasnovas, Carolina De La Torre, Antoinette Gelot, Maria Marsal, Pablo Loza-Alvarez, Àngels García-Cazorla, Ali Fatemi, Isidre Ferrer, Manel Portero-Otin, Estela Area-Gómez, Aurora Pujol
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
Sphingolipids function as membrane constituents and signaling molecules, with crucial roles in human diseases, from neurodevelopmental disorders to cancer, best exemplified in the inborn errors of sphingolipid metabolism in lysosomes. The dihydrocera
Externí odkaz:
https://doaj.org/article/57a458aa84644ca19559b39fa3a6a489
Autor:
José Luis Piñana, Lucia López-Corral, Rodrigo Martino, Lourdes Vazquez, Ariadna Pérez, Gabriel Martin-Martin, Beatriz Gago, Gabriela Sanz-Linares, Andrés Sanchez-Salinas, Lucia Villalon, Venancio Conesa-Garcia, María T. Olave, Magdalena Corona, Sara Marcos-Corrales, Mar Tormo, José Ángel Hernández-Rivas, Juan Montoro, Alicia Rodriguez-Fernandez, Irene Risco-Gálvez, Pablo Rodríguez-Belenguer, Juan Carlos Hernandez-Boluda, Irene García-Cadenas, Montserrat Ruiz-García, Juan Luis Muñoz-Bellido, Carlos Solano, Ángel Cedillo, Anna Sureda, David Navarro, the Infectious Complications Subcommittee of the Spanish Hematopoietic Stem Cell Transplantation and Cell Therapy Group (GETH-TC)
Publikováno v:
Journal of Hematology & Oncology, Vol 15, Iss 1, Pp 1-11 (2022)
Abstract Background The clinical efficacy of SARS-CoV-2 vaccines according to antibody response in immunosuppressed patients such as hematological patients has not yet been established. Patients and methods A prospective multicenter registry-based co
Externí odkaz:
https://doaj.org/article/da55a96642cf49a1b9e2839f401c805d
Autor:
Javier García-Abellán, Antonio Galiana, Marta Fernández-González, Nieves Gonzalo-Jiménez, Montserrat Ruiz-García, Angela Botella, Joan Sanchis, Paula Mascarell, Selene Falcón, Mar Masiá, Félix Gutiérrez
Publikováno v:
Journal of Medical Case Reports, Vol 15, Iss 1, Pp 1-5 (2021)
Abstract Background Differentiating between persistent infection with intermittent viral shedding and reinfection with severe acute respiratory syndrome coronavirus 2 remains challenging. Although a small number of cases with genomic evidence of seco
Externí odkaz:
https://doaj.org/article/d0a03854b0ee47beae3d3579af9b645d