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1دورية أكاديمية
المؤلفون: 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
المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-19 (2023)
مصطلحات موضوعية: Algorithm, WES/WGS, HPOs, Variant prioritization, Interactome, Hereditary spastic paraplegia, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1756-994XTest
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2دورية أكاديمية
المؤلفون: Isabelle Weinhofer, Paulus Rommer, Andreas Gleiss, Markus Ponleitner, Bettina Zierfuss, Petra Waidhofer-Söllner, Stéphane Fourcade, Katharina Grabmeier-Pfistershammer, Marie-Christine Reinert, Jens Göpfert, Anne Heine, Hemmo A.F. Yska, Carlos Casasnovas, Verónica Cantarín, Caroline G. Bergner, Eric Mallack, Sonja Forss-Petter, Patrick Aubourg, Annette Bley, Marc Engelen, Florian Eichler, Troy C. Lund, Aurora Pujol, Wolfgang Köhler, Jörn-Sven Kühl, Johannes Berger
المصدر: EBioMedicine, Vol 96, Iss , Pp 104781- (2023)
مصطلحات موضوعية: X-ALD, Neurodegeneration, Biomarker, Neurofilament light chain, Cytokines, GFAP, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S235239642300347XTest; https://doaj.org/toc/2352-3964Test
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3دورية أكاديمية
المؤلفون: 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
المصدر: The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
مصطلحات موضوعية: Metabolism, Neuroscience, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1558-8238Test
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4دورية أكاديمية
المؤلفون: Agustí Rodríguez‐Palmero, Agatha Schlüter, Edgard Verdura, Montserrat Ruiz, Juan José Martínez, Isabelle Gourlaouen, Chandran Ka, Ricardo Lobato, Carlos Casasnovas, Gérald Le Gac, Stéphane Fourcade, Aurora Pujol
المصدر: Annals of Clinical and Translational Neurology, Vol 7, Iss 9, Pp 1574-1579 (2020)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2328-9503Test
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5دورية أكاديمية
المؤلفون: Edgard Verdura, Agatha Schlüter, Gorka Fernández‐Eulate, Raquel Ramos‐Martín, Miren Zulaica, Laura Planas‐Serra, Montserrat Ruiz, Stéphane Fourcade, Carlos Casasnovas, Adolfo López de Munain, Aurora Pujol
المصدر: Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 105-111 (2020)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2328-9503Test
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6دورية أكاديمية
المؤلفون: Silvia Murillo-Cuesta, Rafael Artuch, Fernando Asensio, Pedro de la Villa, Mara Dierssen, Jose Antonio Enríquez, Cristina Fillat, Stéphane Fourcade, Borja Ibáñez, Lluis Montoliu, Eduardo Oliver, Aurora Pujol, Eduardo Salido, Mario Vallejo, Isabel Varela-Nieto
المصدر: Frontiers in Genetics, Vol 11 (2020)
مصطلحات موضوعية: orphan diseases, animal models, preclinical research, novel therapies, ethics, transparency, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fgene.2020.583932/fullTest; https://doaj.org/toc/1664-8021Test
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7دورية أكاديمية
المؤلفون: Pablo Ranea‐Robles, Nathalie Launay, Montserrat Ruiz, Noel Ylagan Calingasan, Magali Dumont, Alba Naudí, Manuel Portero‐Otín, Reinald Pamplona, Isidre Ferrer, M Flint Beal, Stéphane Fourcade, Aurora Pujol
المصدر: EMBO Molecular Medicine, Vol 10, Iss 8, Pp n/a-n/a (2018)
مصطلحات موضوعية: adrenoleukodystrophy, dimethyl fumarate, GSK‐3, NRF2, oxidative stress, Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
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8
المؤلفون: Janani Parameswaran, Leire Goicoechea, Laura Planas-Serra, Antoni Pastor, Montserrat Ruiz, Noel Y. Calingasan, Cristina Guilera, Ester Aso, Jordi Boada, Reinald Pamplona, Manuel Portero-Otín, Rafael de la Torre, Isidre Ferrer, Carlos Casasnovas, Aurora Pujol, Stéphane Fourcade
المساهمون: Instituto de Salud Carlos III, European Commission, Ministerio de Sanidad, Servicios Sociales e Igualdad (España), Generalitat de Catalunya, Hesperia Foundation, Centro de Investigación Biomédica en Red Enfermedades Raras (España)
المصدر: Acta Neuropathologica 144: 241-258 (2022).
مصطلحات موضوعية: Glycogen Synthase Kinase 3 beta, NF-E2-Related Factor 2, Axonal degeneration, Lipid droplets, ATP Binding Cassette Transporter, Subfamily D, Member 1, Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, Mice, Clinical Trials, Phase II as Topic, Leukocytes, Mononuclear, Animals, CB2r, Neurology (clinical), X-linked adrenoleukodystrophy, Adrenoleukodystrophy, Receptors, Cannabinoid, Redox homeostasis, Endocannabinoids, GSK-3β/NRF2
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85d645ad4a55433f078bd64caded83dbTest
http://hdl.handle.net/10261/287761Test -
9دورية أكاديمية
المؤلفون: Olga C. Jorge-Torres, Karolina Szczesna, Laura Roa, Carme Casal, Louisa Gonzalez-Somermeyer, Marta Soler, Cecilia D. Velasco, Pablo Martínez-San Segundo, Paolo Petazzi, Mauricio A. Sáez, Raúl Delgado-Morales, Stephane Fourcade, Aurora Pujol, Dori Huertas, Artur Llobet, Sonia Guil, Manel Esteller
المصدر: Cell Reports, Vol 23, Iss 6, Pp 1665-1677 (2018)
مصطلحات موضوعية: Biology (General), QH301-705.5
العلاقة: http://www.sciencedirect.com/science/article/pii/S2211124718305394Test; https://doaj.org/toc/2211-1247Test; https://doaj.org/article/bc1437b5be294926aba3171df569a526Test
الإتاحة: https://doi.org/10.1016/j.celrep.2018.04.010Test
https://doaj.org/article/bc1437b5be294926aba3171df569a526Test -
10
المؤلفون: M. Flint Beal, Aurora Pujol, Montserrat Ruiz, Noel Y. Calingasan, Francesc Villarroya, Agatha Schlüter, Pablo Ranea-Robles, Jorge Galino, Alba Naudí, Manuel Portero-Otin, Lluís Espinosa, Reinald Pamplona, Stéphane Fourcade, Isidre Ferrer
المصدر: Neuropathology and Applied Neurobiology. 48
مصطلحات موضوعية: Histology, Inflammation, Mitochondrion, ATP Binding Cassette Transporter, Subfamily D, Member 1, Neuroprotection, Mitochondrial depletion, Pathology and Forensic Medicine, Mice, Neuroinflammation, Physiology (medical), Genetic model, Animals, Homeostasis, Medicine, Adrenoleukodystrophy, business.industry, Neurodegeneration, medicine.disease, Nuclear Receptor Interacting Protein 1, Mitochondria, Disease Models, Animal, RIP140, Neurology, Oxidative stress, ATP-Binding Cassette Transporters, Neurology (clinical), medicine.symptom, business, Neuroscience
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe25c00fb51a5d919d24648da16a178aTest
https://doi.org/10.1111/nan.12747Test