نتائج البحث - "Lafora disease"

المساهمون: Imbrici, Paola, D’Orsi, Giuseppe, Carella, Massimo, Nicolotti, Orazio, De Luca, Annamaria, Altomare, Cosimo Damiano, Liantonio, Antonella

مصطلحات موضوعية: SGLT2 inhibitors, Lafora disease, epilepsy, repurposing

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:001128591900001; volume:199; journal:PHARMACOLOGICAL RESEARCH; https://hdl.handle.net/11586/461720

الاتاحة: https://hdl.handle.net/11586/461720
https://doi.org/10.1016/j.phrs.2023.107012

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7

Academic Journal

ATUAÇÃO DA FISIOTERAPIA NA EPILEPSIA MIOCLONIA PROGRESSIVA 2A (LAFORA) ASSOCIADA À ENCEFALOPATIA EPILÉPTICA ; THE PERFORMANCE OF PHYSIOTHERAPY IN PROGRESSIVE MYOCLONUS 2A EPILEPSY (LAFORA) ASSOCIATED WITH EPILEPTIC ENCEPHALOPATHY ; EL PAPEL DE LA FISIOTERAPIA EN LA EPILEPSIA MIOCLONÍA PROGRESIVA 2A(LAFORA) ASOCIADA A LA ENCEFALOPATÍA EPILÉPTICA

المؤلفون: Monteiro, Tiago Henrique da Silva, Oliveira, Camille Rodrigues, Azevêdo, Elaine Aparecida Pedrozo

المصدر: Revista Ibero-Americana de Humanidades, Ciências e Educação; Vol. 10 No. 6 (2024): Revista Ibero-Americana de Humanidades, Ciências e Educação- REASE; 4372- 4388 ; Revista Ibero-Americana de Humanidades, Ciências e Educação; v. 10 n. 6 (2024): Revista Ibero-Americana de Humanidades, Ciências e Educação- REASE; 4372- 4388 ; 2675-3375 ; 10.51891/rease.v10i6

مصطلحات موضوعية: Lafora disease. Epilipsia. Myoclonus, Doença de Lafora. Epilipsia. Mioclonia, Enfermedad de Lafora. Epilipsia. Mioclon

وصف الملف: application/pdf

Relation: https://periodicorease.pro.br/rease/article/view/14786/7572; https://periodicorease.pro.br/rease/article/view/14786

الاتاحة: https://periodicorease.pro.br/rease/article/view/14786
https://doi.org/10.51891/rease.v10i6.14786

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8

Academic Journal

Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances

المؤلفون: Vincent Zimmern, Berge Minassian

المصدر: Genes, Vol 15, Iss 2, p 171 (2024)

مصطلحات موضوعية: progressive myoclonic epilepsy, Unverricht-Lundborg disease, Lafora disease, acid ceramidase deficiency, myoclonic epilepsy with ragged red fibers, neuronal ceroid lipofuscinoses, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/15/2/171; https://doaj.org/toc/2073-4425; https://doaj.org/article/c2b3faffa97642f1a97832b8f690a6c1

الاتاحة: https://doi.org/10.3390/genes15020171
https://doaj.org/article/c2b3faffa97642f1a97832b8f690a6c1

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9

Academic Journal

Beneficial Effect of Fingolimod in a Lafora Disease Mouse Model by Preventing Reactive Astrogliosis-Derived Neuroinflammation and Brain Infiltration of T-lymphocytes

المؤلفون: Rubio, Teresa, Campos-Rodríguez, Ángela, Sanz, Pascual

المساهمون: CSIC - Unidad de Recursos de Información Científica para la Investigación (URICI), Ministerio de Ciencia e Innovación (España), Fundació La Marató de TV3, National Institutes of Health (US), Sanz, Pascual

مصطلحات موضوعية: Dimethyl fumarate, Fingolimod, Lafora disease, Neuroinflammation, T-lymphocyte infiltration

Relation: #PLACEHOLDER_PARENT_METADATA_VALUE#; info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/PID2020-112972RB-I00/ES/ESTUDIO DE LA RELACION ENTRE NEUROINFLAMACION Y EPILEPSIA: EL CASO DE LA ENFERMEDAD DE LAFORA/; Publisher's version; The underlying dataset has been published as supplementary material of the article in the publisher platform at DOI 10.1007/s12035-023-03766-1; https://doi.org/10.1007/s12035-023-03766-1; Sí; Molecular Neurobiology 61(6):3105-3120 (2024); PMC11087365; http://hdl.handle.net/10261/358911

الاتاحة: http://hdl.handle.net/10261/358911
https://doi.org/10.1007/s12035-023-03766-1

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10

Academic Journal

Dapagliflozin ameliorates Lafora disease phenotype in a zebrafish model.

المؤلفون: Della Vecchia, Stefania, Imbrici, Paola, Liantonio, Antonella, Naef, Valentina, Damiani, Devid, Licitra, Rosario, Bernardi, Sara, Marchese, Maria, Santorelli, Filippo Maria

المصدر: Biomed Pharmacother ; ISSN:1950-6007 ; Volume:183

مصطلحات موضوعية: Dapagliflozin, Gliflozins, Lafora disease, Progressive myoclonic epilepsies, Repurposing drugs

Relation: https://doi.org/10.1016/j.biopha.2024.117800; https://pubmed.ncbi.nlm.nih.gov/39753095

الاتاحة: https://doi.org/10.1016/j.biopha.2024.117800
https://pubmed.ncbi.nlm.nih.gov/39753095

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11

Academic Journal

MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease

المؤلفون: Yueqian Sun, Ziqi Zhou, Qun Wang, Jing Yan, Zaiqiang Zhang, Tao Cui

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 10, Pp n/a-n/a (2023)

مصطلحات موضوعية: brain atrophy, Lafora disease, MRI, mutation, pedigree, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/a4ead17676e849e78cbfd1c0725b21fa

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Glial alterations in the glutamatergic and GABAergic signaling pathways in a mouse model of Lafora disease, a severe form of progressive myoclonus epilepsy

المؤلفون: Viana, Rosa, Rubio, Teresa, Campos-Rodríguez, Ángela, Sanz, Pascual

المساهمون: Ministerio de Ciencia e Innovación (España), Fundació La Marató de TV3, National Institutes of Health (US), Generalitat Valenciana, Sanz, Pascual, Consejo Superior de Investigaciones Científicas https://ror.org/02gfc7t72

مصطلحات موضوعية: Lafora disease, Glutamatergic signaling, GABAergic signaling, Src protein kinase family, Hyperexcitability

Relation: #PLACEHOLDER_PARENT_METADATA_VALUE#; info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/PID2020-112972RB-I00/ES/ESTUDIO DE LA RELACION ENTRE NEUROINFLAMACION Y EPILEPSIA: EL CASO DE LA ENFERMEDAD DE LAFORA/; https://doi.org/10.1101/2024.09.13.612874; Sí; BioRxiv: 2024.09.13.612874 (2024); PMC11419120; http://hdl.handle.net/10261/376186

الاتاحة: http://hdl.handle.net/10261/376186
https://doi.org/10.1101/2024.09.13.612874

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