3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases

Autor: Ana Belén de la Hoz, Hiart Maortua, Ainhoa García-Rives, María Jesús Martínez-González, Maitane Ezquerra, María-Isabel Tejada

Publikováno v: Case Reports in Genetics, Vol 2015 (2015)

To date, few cases of 3p proximal interstitial deletions have been reported and the phenotype and genotype correlation is not well understood. Here, we report a new case of a 3p proximal interstitial deletion. The patient is an 11-year-old female wit

Externí odkaz: https://doaj.org/article/25431cce4e0c438a8e9d6f920b5d92f0

Evidence of a flare ignited above a low-latitude spotted active region in the ultrafast rotator HK Aqr

Autor: María Jesús Martínez González, Andrés Asensio Ramos, Carlos González-Fernández, Tanausú del Pino Alemán, David Montes, Manuel Luna, Tobías Felipe, Sara Esteban Pozuelo, Martin Leitzinger

Publikováno v: Monthly Notices of the Royal Astronomical Society. 517:744-754

We study the magnetic activity in the ultrafast rotator dMe HK Aqr using tomography techniques with high-resolution spectroscopy. We aim to characterize how this magnetic activity appears in a regime of very fast rotation without external forces, giv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3696c98de44106307a98f3b07bf550f8
https://doi.org/10.1093/mnras/stac2612

Optical design of an image slicer-based Integral Field Unit for the THEMIS solar telescope

Autor: Silvia Regalado Olivares, Roberto López López, Manuel Collados Vera, Carlos Quintero Noda, María Jesús Martínez González, Sara Esteban Pozuelo, Bernard F. Gelly

Publikováno v: Advances in Optical and Mechanical Technologies for Telescopes and Instrumentation V.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::24a7435e1da03a50456c569a0dfeb28c
https://doi.org/10.1117/12.2629265

Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL

Autor: Antonia Kappen, María Unceta Suarez, Richard J. Rodenburg, Liesbeth T. Wintjes, María Jesús Martínez-González, Filipa Borges, Emiliano González-Vioque, Alvaro Hermida, Sofia Barbosa-Gouveia, María-Luz Couce

Publikováno v: Genes, 11
Genes, Vol 11, Iss 1028, p 1028 (2020)
Genes
Volume 11
Issue 9
Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
instname
Minerva: Repositorio Institucional de la Universidad de Santiago de Compostela
Universidad de Santiago de Compostela (USC)
Genes, 11, 9

The EARS2 nuclear gene encodes mitochondrial glutamyl-tRNA synthetase, a member of the class I family of aminoacyl-tRNA synthetases (aaRSs) that plays a crucial role in mitochondrial protein biosynthesis by catalyzing the charging of glutamate to mit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31c3c0ac5eeb8bfde17e926c14a910c8
http://hdl.handle.net/2066/225872

Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis

Autor: Simone Mattozzi, Pere Soler-Palacín, Manuel Toledo, Laia Alsina, Gemma Aznar-Laín, Cristóbal Carnero, Teresa Bermejo, Virginia Pomar, Eloy Rodríguez-Rodríguez, Lucía Martín-Viota, Carmen Torres-Torres, David Dacruz-Álvarez, Laura Toledo-Bravo, Juan C Portillo-Cuenca, Verónica González-Álvarez, Elisa Fernández-Cooke, Eloy Martinez-Heras, Maria Concepción Miranda-Herrero, Maria Angeles Marcos, Dulce Campos, Olaf Neth, Verónica Delgadillo-Chilavert, Ana Zabalza, Alexandru Vlagea, Silvana Sarria-Estrada, Myrna R. Rosenfeld, Robert Guerri, María Lorenzo-Ruiz, Laura Abraira, Alfonso Amado-Puentes, Carmen Montejo, Beatriz Muñoz-Cabello, Marcos Madruga, Maria Elena Erro, Anna Felipe, Germán Morís, Luis Monros-Giménez, Claudia Fortuny, Luisa Arrabal, Noemí Nuñez-Enamorado, Albert Saiz, Andrea Campo, Jordi Muchart, Antonio Hedrera-Fernández, Josep Dalmau, Juan C García-Monco, Itxaso Martí-Carrera, David Conejo-Moreno, Eduardo López-Laso, María Poyato, Gabriela Secondi, Thaís Armangue, Eulàlia Turón, Sergio Aguilera-Albesa, Antia Moreira, Miguel Tomás, Ignacio Málaga-Diéguez, Sabas Boyero-Durán, Teresa Gili, Xavier Martínez-Lacasa, Sara Llufriu, Luis Querol, Luis Bataller, Luis Prieto, Íñigo Corral-Corral, Antoni Noguera-Julian, Marianna Spatola, Marc Carceles-Cordon, Àngela Deyà, Leticia Martín Gil, Lorena Monge, Eugenia Martinez-Hernandez, Antonio Arjona-Padillo, Joaquín A. Fernández-Ramos, Marta Dapena, Juan Navarro-Morón, Ana Camacho, Francesc Graus, Concepción Sierra, María J. López, María-Jesús Martínez-González, Jordi Estela-Herrero, Verónica Cantarín-Extremera, S Guillén, Paula Bellas-Lamas, Izascun Arratibel, Helena Ariño, Víctor Soto-Insuga, Manel Juan

Publikováno v: LANCET NEUROLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu

BACKGROUND: Herpes simplex encephalitis can trigger autoimmune encephalitis that leads to neurological worsening. We aimed to assess the frequency, symptoms, risk factors, and outcomes of this complication. METHODS: We did a prospective observational

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fabf730fd9775265ff1029b31bd1c2f
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=8151