المؤلفون: Miguel Sanz, Claudia, Martinez Navarro, Miriam, Caballero Diaz, Daniel, Sanchez-Elexpuru, Gentzane, Di Donato, Vincenzo

المصدر: Frontiers in Neurology ; volume 14 ; ISSN 1664-2295

الاتاحة: http://dx.doi.org/10.3389/fneur.2023.1213969
https://www.frontiersin.org/articles/10.3389/fneur.2023.1213969/full

المؤلفون: Fleming, Angeleen, Xuan, Low Zhe, Sanchez-Elexpuru, Gentzane, Williams, Sarah V, Windell, Dylan, Gelb, Michael H, Herbst, Zackary M, Schlotawa, Lars, Rubinsztein, David C

المصدر: essn: 2296-634X ; nlmid: 101630250

مصطلحات موضوعية: SUMF1, formylglycine-generating enzyme, lysosome, multiple sulfatase deficiency, zebrafish

وصف الملف: application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/339343

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/339343
https://doi.org/10.17863/CAM.86754

المؤلفون: Schlotawa, Lars, Lopez Ramirez, Ana, Sanchez Elexpuru, Gentzane, Tyrkalska, Sylwia, Rubinsztein, David, Fleming, Angeleen

مصطلحات موضوعية: ATG4B, ATG5, LC3-II, autophagy, neurodegeneration, tamoxifen, zebrafish, Animals, Humans, Zebrafish Proteins, Neurons, Green Fluorescent Proteins

وصف الملف: application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/342023

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/342023
https://doi.org/10.17863/CAM.89440

المؤلفون: Sánchez Elexpuru, Gentzane

Thesis Advisors: Sánchez García, Marina P. (dir.), Serratosa Fernández, José M.(dir.), UAM. Departamento de Bioquímica, Laboratorio de Neurología del IIS-Fundación Jiménez Díaz

URL الوصول: http://hdl.handle.net/10486/678985

المؤلفون: Burgos, Daniel F., Cusso Mula, Lorena, Sánchez Elexpuru, Gentzane, Calle, Daniel, Perpinyà, Max Bautista, Desco Menéndez, Manuel, Serratosa, José M., Sánchez, Marina P.

المساهمون: Comunidad de Madrid, Ministerio de Economía y Competitividad (España)

مصطلحات موضوعية: 1H-HRMAS MRS, Brain metabolites, FDG PET, Lafora disease, Mouse models, MRI, Volumetry, Aeronáutica, Ingeniería Naval, Telecomunicaciones, Biología y Biomedicina

Relation: Gobierno de España. SAF2014-59594-R; Gobierno de España. RTI2018-095784B-100SAF; Comunidad de Madrid. S2017/BMD-3867; Burgos, D. F., Cussó, L., Sánchez-Elexpuru, G., Calle, D., Perpinyà, M. B., Desco, M., Serratosa, J. M., & Sánchez, M. P. (2020). Structural and functional brain abnormalities in mouse models of LaFora disease. International Journal of Molecular Sciences, 21(20), 7771.; http://hdl.handle.net/10016/37925; https://doi.org/10.3390/ijms21207771; 20, 7771; 15; International Journal of Molecular Sciences; 21; AR/0000027578

الاتاحة: http://hdl.handle.net/10016/37925
https://doi.org/10.3390/ijms21207771

المؤلفون: Burgos, Daniel F, Cussó, Lorena, Sánchez-Elexpuru, Gentzane, Calle, Daniel, Perpinyà, Max Bautista, Desco, Manuel, Serratosa, José M, Sánchez, Marina P

مصطلحات موضوعية: 1H-HRMAS MRS, FDG PET, Lafora disease, MRI, brain metabolites, mouse models, volumetry, Animals, Atrophy, Basal Ganglia, Brain, Brain Diseases, Cerebellum, Cerebral Cortex, Disease Models, Animal, Glucose, Hippocampus, Humans, Magnetic Resonance Imaging, Mice, Knockout, Mutation, Positron-Emission Tomography, Protein Tyrosine Phosphatases, Non-Receptor, Ubiquitin-Protein Ligases

وصف الملف: application/zip; text/xml; application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/311799

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/311799
https://doi.org/10.17863/CAM.58889

المؤلفون: Arranz, Juan, Balducci, Elisa, 1981-, Arató, Krisztina, 1981-, Sánchez-Elexpuru, Gentzane, Najas Sales, Sònia, 1985-, Parras, Alberto, Rebollo, Elena, Pijuan, Isabel, Erb, Ionas, Verde, Gaetano, Sahún, Ignasi, Barallobre, María José, Lucas, José J., Sánchez, Marina P., de la Luna, Susana, Arbonés de Rafael, Maria Lourdes, 1959-

مصطلحات موضوعية: Autism spectrum disorder, Cerebral cortex, DYRK1A mutations, Epilepsy, Neurodevelopment, Transcriptome

وصف الملف: application/pdf

Relation: Neurobiology of Disease. 2019;127:210-22; info:eu-repo/grantAgreement/ES/1PE/BFU2016-81887; info:eu-repo/grantAgreement/ES/1PE/SAF2013-46676-P; info:eu-repo/grantAgreement/ES/1PE/SAF2016-77971-R; info:eu-repo/grantAgreement/ES/1PE/BFU2013-44513; info:eu-repo/grantAgreement/ES/1PE/BFU2016-76141; http://hdl.handle.net/10230/42361; http://dx.doi.org/10.1016/j.nbd.2019.02.022

الاتاحة: http://hdl.handle.net/10230/42361
https://doi.org/10.1016/j.nbd.2019.02.022

المؤلفون: Villalba-Orero, María, Sánchez-Elexpuru, Gentzane, López-Olañeta, Marina, Campuzano Larrea, Oscar, Bello-Arroyo, Elisabet, Garcia-Pavia, Pablo, Serratosa, José M., Brugada, Ramon, Sánchez, Marina P., Lara-Pezzi, Enrique

المصدر: © Journal of the American College of Cardiology, 2017, vol. 69, núm. 24, p. 3006-3013 ; Articles publicats (D-CM) ; Villalba-Orero, María Sánchez-Elexpuru, Gentzane López-Olañeta, Marina Campuzano Larrea, Oscar Bello-Arroyo, Elisabet Garcia-Pavia, Pablo Serratosa, José M. Brugada, Ramon Sánchez, Marina P. Lara-Pezzi, Enrique 2017 Lafora Disease Is an Inherited Metabolic Cardiomyopathy Journal of the American College of Cardiology 69 24 3006 3013

مصطلحات موضوعية: Cor -- Malalties -- Aspectes genètics, Heart -- Diseases -- Genetic aspects, Miocardi -- Malalties, Myocardium -- Diseases

وصف الملف: 8 p.; application/pdf

Relation: info:eu-repo/semantics/altIdentifier/issn/0735-1097; info:eu-repo/semantics/altIdentifier/eissn/1558-3597; http://hdl.handle.net/10256/24242

الاتاحة: http://hdl.handle.net/10256/24242

المؤلفون: Sánchez-Elexpuru, Gentzane, Serratosa, José M., Sanz, Pascual, Sánchez, Marina P.

المساهمون: Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), Centro de Investigación Biomédica en Red Enfermedades Raras (España), Sanz, Pascual

مصطلحات موضوعية: Lafora disease, Epilepsy, Oxidative stress, Autophagy, PTZ, Malin knockout mouse

Relation: #PLACEHOLDER_PARENT_METADATA_VALUE#; MINECO/SAF2014/59594/R; Postprint; http://dx.doi.org/10.1097/WNR.0000000000000751; Sí; NeuroReport 28(5):268-271 (2017); http://hdl.handle.net/10261/167536; http://dx.doi.org/10.13039/501100004587; http://dx.doi.org/10.13039/501100003329

الاتاحة: http://hdl.handle.net/10261/167536
https://doi.org/10.1097/WNR.0000000000000751
https://doi.org/10.13039/501100004587
https://doi.org/10.13039/501100003329

المؤلفون: Sánchez‐Elexpuru, Gentzane, Serratosa, José M., Sánchez, Marina P.

المساهمون: Fondo de Investigacion Sanitaria/Carlos III Institute of Health, Spanish Ministry of Health (FEDER), Spanish Ministry of Economy, Fundación Conchita Rábago

المصدر: Epilepsia ; volume 58, issue 3, page 467-475 ; ISSN 0013-9580 1528-1167

الاتاحة: http://dx.doi.org/10.1111/epi.13656
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fepi.13656
https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.13656

المؤلفون: Fleming, Angeleen, Xuan, Low Zhe, Sanchez-Elexpuru, Gentzane, Williams, Sarah V, Windell, Dylan, Gelb, Michael H, Herbst, Zackary M, Schlotawa, Lars, Rubinsztein, David

المساهمون: Windell, Dylan [0000-0002-8188-6573], Apollo - University of Cambridge Repository, Rubinsztein, David [0000-0001-5002-5263]

المصدر: Frontiers in cell and developmental biology. 10

مصطلحات موضوعية: Cell and Developmental Biology, formylglycine-generating enzyme, lysosome, multiple sulfatase deficiency, Cell Biology, SUMF1, zebrafish, Developmental Biology

وصف الملف: application/pdf; application/octet-stream; application/zip; text/xml

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e95adb46279a70dbf14ba7030c4a9b7d
https://pubmed.ncbi.nlm.nih.gov/35721514

المؤلفون: Schlotawa, Lars, Lopez, Ana, Sanchez-Elexpuru, Gentzane, Tyrkalska, Sylwia D., Rubinsztein, David C., Fleming, Angeleen

المصدر: Autophagy; May2023, Vol. 19 Issue 5, p1582-1595, 14p

مصطلحات موضوعية: ESTROGEN receptors, RNA-binding proteins, GREEN fluorescent protein, TRANSGENE expression, ANALYSIS of variance, FLUORESCENT proteins, MICROTUBULE-associated proteins

المؤلفون: García-Cabrero, Ana M., Sánchez-Elexpuru, Gentzane, Serratosa, José M., Sánchez, Marina P.

المصدر: Frontiers in Neuroscience ; volume 8 ; ISSN 1662-453X

الاتاحة: http://dx.doi.org/10.3389/fnins.2014.00291

المؤلفون: Sánchez Elexpuru, Gentzane

المساهمون: Sánchez García, Marina P., Serratosa Fernández, José M., UAM. Departamento de Bioquímica, Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD)

مصطلحات موضوعية: Lafora, Enfermedad de - Tratamiento - Tesis doctorales, Medicina

وصف الملف: application/pdf

Relation: http://hdl.handle.net/10486/678985

الاتاحة: http://hdl.handle.net/10486/678985