Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency.

Autor: Tenorio-Castano J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-IdIPAZ, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium., Gómez ÁS; Primary Care Pediatrician, SERMAS, Madrid, Spain., Coronado M; Department of Radiology, Hospital Universitario La Paz, Madrid, Spain., Rodríguez-Martín P; Instituto Cajal, Consejo Superior de Investigaciones Científicas (CSIC), Madrid, Spain., Parra A; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-IdIPAZ, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium., Pascual P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-IdIPAZ, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium., Cazalla M; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-IdIPAZ, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium., Gallego N; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-IdIPAZ, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium., Arias P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-IdIPAZ, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium., Morales AV; Instituto Cajal, Consejo Superior de Investigaciones Científicas (CSIC), Madrid, Spain., Nevado J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-IdIPAZ, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium., Lapunzina P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-IdIPAZ, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium.

Publikováno v: Clinical genetics [Clin Genet] 2023 Dec; Vol. 104 (6), pp. 637-647. Date of Electronic Publication: 2023 Sep 13.

Determinants and Differences in Satisfaction with the Inhaler Among Patients with Asthma or COPD

Autor: Plaza, V, Giner, J, Curto, E, Alonso-Ortiz, MB, Orue, MI, Vega, JM, Cosio, BG, Linares, VB, Mora, RB, Cesar, EC, Viera, AC, Castillo, R, de los Monteros-Garde, MJE, Rodriguez-Lacin, JMF, Robaina, JCG, Santana, GH, Perez, NM, Arrondo, AP, Sanchez, JP, Encinar, JRR, Plata, ER, Bernal, BR, Osora, JM, Cunill, AS, Lora, FJS, Nieto, JMS, Batlles, JS, Relucio, JJT, Morales, AV, Alarcon, RLV, Garrido, JLV

Publikováno v: Journal of Allergy and Clinical Immunology-In Practice
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

BACKGROUND: Satisfaction with the inhaler is an important determinant of treatment adherence in patients with asthma and chronic obstructive pulmonary disease (COPD). However, few studies have compared these 2 groups to identify the factors associate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::66c1cd323bf5392198578b1b8d742cea
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=2057

Sublayer- and cell-type-specific neurodegenerative transcriptional trajectories in hippocampal sclerosis.

Autor: Cid E; Instituto Cajal, CSIC, 28002 Madrid, Spain., Marquez-Galera A; Instituto de Neurociencias, Universidad Miguel Hernández-Consejo Superior de Investigaciones Científicas (UMH-CSIC), 03550 Sant Joan d'Alacant, Alicante, Spain., Valero M; Instituto Cajal, CSIC, 28002 Madrid, Spain., Gal B; Instituto Cajal, CSIC, 28002 Madrid, Spain; Universidad Europea de Madrid, 28670 Villaviciosa de Odón, Madrid, Spain., Medeiros DC; Instituto Cajal, CSIC, 28002 Madrid, Spain., Navarron CM; Instituto de Neurociencias, Universidad Miguel Hernández-Consejo Superior de Investigaciones Científicas (UMH-CSIC), 03550 Sant Joan d'Alacant, Alicante, Spain., Ballesteros-Esteban L; Instituto Cajal, CSIC, 28002 Madrid, Spain., Reig-Viader R; Institut d'Investigació Biomèdica San Pau, 08041 Barcelona, Spain; Universitat Autònoma de Barcelona, 08193 Bellaterra, Cerdanyola del Vallès, Spain., Morales AV; Instituto Cajal, CSIC, 28002 Madrid, Spain., Fernandez-Lamo I; Instituto Cajal, CSIC, 28002 Madrid, Spain., Gomez-Dominguez D; Instituto Cajal, CSIC, 28002 Madrid, Spain., Sato M; RIKEN Brain Science Institute, Wako, 351-0198 Saitama, Japan., Hayashi Y; RIKEN Brain Science Institute, Wako, 351-0198 Saitama, Japan; Department of Pharmacology, Kyoto University Graduate School of Medicine, 606-8501 Kyoto, Japan., Bayés À; Institut d'Investigació Biomèdica San Pau, 08041 Barcelona, Spain; Universitat Autònoma de Barcelona, 08193 Bellaterra, Cerdanyola del Vallès, Spain., Barco A; Instituto de Neurociencias, Universidad Miguel Hernández-Consejo Superior de Investigaciones Científicas (UMH-CSIC), 03550 Sant Joan d'Alacant, Alicante, Spain., Lopez-Atalaya JP; Instituto de Neurociencias, Universidad Miguel Hernández-Consejo Superior de Investigaciones Científicas (UMH-CSIC), 03550 Sant Joan d'Alacant, Alicante, Spain. Electronic address: jose.lopezatalaya@csic.es., de la Prida LM; Instituto Cajal, CSIC, 28002 Madrid, Spain. Electronic address: lmprida@cajal.csic.es.

Publikováno v: Cell reports [Cell Rep] 2021 Jun 08; Vol. 35 (10), pp. 109229.

Benzothiazole-Based LRRK2 Inhibitors as Wnt Enhancers and Promoters of Oligodendrocytic Fate.

Autor: Zaldivar-Diez J; Centro de Investigaciones Biológicas, CSIC, Ramiro de Maeztu 9, 28040 Madrid, Spain., Li L; Instituto Cajal, CSIC, Av. Doctor Arce, 37, 28002 Madrid, Spain., Garcia AM; Centro de Investigaciones Biológicas, CSIC, Ramiro de Maeztu 9, 28040 Madrid, Spain., Zhao WN; Chemical Neurobiology Lab, Center for Genomic Medicine, Departments of Neurology and Psychiatry, Massachusetts General Hospital, Harvard Medical School, 185 Cambridge Street, Boston, Massachusetts 02114, United States., Medina-Menendez C; Instituto Cajal, CSIC, Av. Doctor Arce, 37, 28002 Madrid, Spain., Haggarty SJ; Chemical Neurobiology Lab, Center for Genomic Medicine, Departments of Neurology and Psychiatry, Massachusetts General Hospital, Harvard Medical School, 185 Cambridge Street, Boston, Massachusetts 02114, United States., Gil C; Centro de Investigaciones Biológicas, CSIC, Ramiro de Maeztu 9, 28040 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto Carlos III, 28031 Madrid, Spain., Morales AV; Instituto Cajal, CSIC, Av. Doctor Arce, 37, 28002 Madrid, Spain., Martinez A; Centro de Investigaciones Biológicas, CSIC, Ramiro de Maeztu 9, 28040 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto Carlos III, 28031 Madrid, Spain.

Publikováno v: Journal of medicinal chemistry [J Med Chem] 2020 Mar 12; Vol. 63 (5), pp. 2638-2655. Date of Electronic Publication: 2019 Dec 26.

Proximodistal Organization of the CA2 Hippocampal Area.

Autor: Fernandez-Lamo I; Instituto Cajal, CSIC, Ave Doctor Arce 37, Madrid 28002, Spain., Gomez-Dominguez D; Instituto Cajal, CSIC, Ave Doctor Arce 37, Madrid 28002, Spain., Sanchez-Aguilera A; Instituto Cajal, CSIC, Ave Doctor Arce 37, Madrid 28002, Spain., Oliva A; Department of Neuroscience, Zuckerman and Kavli Institutes, Columbia University, 3227 Broadway, New York, NY 10027, USA., Morales AV; Instituto Cajal, CSIC, Ave Doctor Arce 37, Madrid 28002, Spain., Valero M; Instituto Cajal, CSIC, Ave Doctor Arce 37, Madrid 28002, Spain., Cid E; Instituto Cajal, CSIC, Ave Doctor Arce 37, Madrid 28002, Spain., Berenyi A; MTA-SZTE 'Momentum' Oscillatory Neuronal Networks Research Group, Interdisciplinary Excellence Centre, Department of Physiology, University of Szeged, Szeged 6720, Hungary., Menendez de la Prida L; Instituto Cajal, CSIC, Ave Doctor Arce 37, Madrid 28002, Spain. Electronic address: lmprida@cajal.csic.es.

Publikováno v: Cell reports [Cell Rep] 2019 Feb 12; Vol. 26 (7), pp. 1734-1746.e6.