المؤلفون: Divyani Garg, Suvasini Sharma, Shekeeb S. Mohammad, Asuri Narayan Prasad

المصدر: Frontiers in Neurology, Vol 15 (2024)

مصطلحات موضوعية: movement disorders, metabolic disease, mitochondrial, DBS (deep brain stimulation), neurodegeneration with brain iron accumulation (NBIA), Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2024.1397998/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/66b919109f5b40219e169a35b732aa94Test

المؤلفون: Emil K. Gustavsson, Jordan Follett, Joanne Trinh, Sandeep Kumar Barodia, Raquel Real, Yong Li, Melissa Grant‐Peters, Jesse Fox, Silke Appel‐Cresswell, A. Jon Stoessl, Alex Rajput, Ali H. Rajput, Roland N. Auer, Russel Tilney, Marc Sturm, Tobias B. Haack, Suzanne Lesage, Christelle Tesson, Alexis Brice, Carles Vilariño‐Güell, Mina Ryten, Matthew S. Goldberg, Andrew B. West, Michèle Hu, Huw R. Morris, Manu Sharma, Ziv Gan‐Or, Bedia Samancı, Paweł Lis, María Teresa Periñán, Rim Amouri, Samia Ben Sassi, F. Hentati, Francesca Tonelli, Dario R. Alessi, Matthew J. Farrer

مصطلحات موضوعية: Pathophysiology of Parkinson's Disease, Neurology, Medicine, Health Sciences, Neurodegeneration with Brain Iron Accumulation, Neuroscience, Life Sciences, Nurr1/CoREST Pathway in Neuroprotection and Inflammation, Cellular and Molecular Neuroscience, Parkinsonism, Parkinson's Disease, LRRK2, Proband, Disease, Neurogenetics, Rab, Genome-wide association study, Genetics, FOS Biological sciences, Exome sequencing, Parkinson's disease, Genetic association, Genotyping, Exome, Biology, Single-nucleotide polymorphism, Genotype, Internal medicine, GTPase, Mutation

العلاقة: https://dx.doi.org/10.60692/br2kq-4sm60Test

الإتاحة: https://doi.org/10.60692/et5tb-6k87510.60692/br2kq-4sm60Test

المؤلفون: Alana Ferreira de Andrade, Grace Kelly dos Santos Guimarães, João Ferreira da Silva, Bruno Manuel Moura de Sousa, Marcos Manoel Honorato, Renata Maria de Carvalho Cremaschi, Fernando Morgadinho Santos Coelho

المصدر: The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, Vol 59, Iss 1, Pp 1-4 (2023)

مصطلحات موضوعية: Neurodegeneration with brain iron accumulation 2A, Encephalopathy, Cerebral palsy, Neurodegeneration, PLA2G6 associated, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1687-8329Test

الوصول الحر: https://doaj.org/article/483a3cc9393e4d138313150d26d778bdTest

المؤلفون: Irene Villalón-García, Suleva Povea-Cabello, Mónica Álvarez-Córdoba, Marta Talaverón-Rey, Juan M Suárez-Rivero, Alejandra Suárez-Carrillo, Manuel Munuera-Cabeza, Diana Reche-López, Paula Cilleros-Holgado, Rocío Piñero-Pérez, José A Sánchez-Alcázar

المصدر: Neural Regeneration Research, Vol 18, Iss 6, Pp 1196-1202 (2023)

مصطلحات موضوعية: 4-hidroxynonenal, ferroptosis, iron, lipid peroxidation, lipofuscin, neurodegeneration, neurodegeneration with brain iron accumulation, oxidative stress, pla2g6-associated neurodegeneration, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://www.nrronline.org/article.asp?issn=1673-5374;year=2023;volume=18;issue=6;spage=1196;epage=1202;aulast=VillalTestón-García; https://doaj.org/toc/1673-5374Test

الوصول الحر: https://doaj.org/article/6b03972c86ee4badb530ea9449247808Test

المؤلفون: Rickman, O.

المساهمون: Crosby, A., Chilton, J., Baple, E.

مصطلحات موضوعية: Motor neurone disease, Mast syndrome, Lipid imbalance, Hereditary spastic paraplegia, Neurodegeneration with brain iron accumulation

الوصول الحر: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.841949Test

المؤلفون: Kyung Ah Woo, Han-Joon Kim, Seung-Ho Jeon, Hye Ran Park, Kye Won Park, Seung Hyun Lee, Sun Ju Chung, Jong-Hee Chae, Sun Ha Paek, Beomseok Jeon

المصدر: Journal of Movement Disorders, Vol 15, Iss 3, Pp 241-248 (2022)

مصطلحات موضوعية: deep brain stimulation (dbs), dystonia, globus pallidus, neurodegeneration with brain iron accumulation (nbia), pantothenate kinase-associated neurodegeneration (pkan), Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://www.e-jmd.org/upload/jmd-22002.pdfTest; https://doaj.org/toc/2005-940XTest; https://doaj.org/toc/2093-4939Test

الوصول الحر: https://doaj.org/article/272c6da3b15142a283cc4397845bdf64Test

المؤلفون: Romana Perkovic, Kristina Gotovac Jercic, Manuela Francic, David Ozretic, Fran Borovecki

المصدر: Türk Nöroloji Dergisi, Vol 28, Iss 2, Pp 118-121 (2022)

مصطلحات موضوعية: mitochondrial protein associated neurodegeneration, neurodegeneration with brain iron accumulation, c19orf12, Medicine, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-26125&look4Test=; https://doaj.org/toc/1309-2545Test

الوصول الحر: https://doaj.org/article/bceab3c0c1fd4d609cc87322286defbfTest

المؤلفون: Mónica Álvarez-Córdoba, Marta Talaverón-Rey, Suleva Povea-Cabello, Paula Cilleros-Holgado, David Gómez-Fernández, Rocío Piñero-Pérez, Diana Reche-López, Manuel Munuera-Cabeza, Alejandra Suárez-Carrillo, Ana Romero-González, Jose Manuel Romero-Domínguez, Alejandra López-Cabrera, José Ángel Armengol, José Antonio Sánchez-Alcázar

المصدر: Pharmaceuticals, Vol 16, Iss 10, p 1359 (2023)

مصطلحات موضوعية: neurodegeneration with brain iron accumulation (NBIA), pantothenate kinase-associated neurodegeneration (PKAN), pantothenate kinase 2 (PANK2), pantothenate, pantethine, vitamin E, Medicine, Pharmacy and materia medica, RS1-441

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1424-8247/16/10/1359Test; https://doaj.org/toc/1424-8247Test

الوصول الحر: https://doaj.org/article/30fbb85db9794c40803877a8be747a45Test

المؤلفون: Martínez Rubio, Dolores, Hinarejos, Isabel, Sancho, Paula, Gorría Redondo, Nerea, Bernadó Fonz, Raquel, Tello, Cristina, Mir Rivera, Pablo, Espinós, Carmen

المساهمون: Universidad de Sevilla. Departamento de Medicina, Instituto de Salud Carlos III, European Commission (EC). Fondo Europeo de Desarrollo Regional (FEDER), Fundació La Marató TV3, Generalitat Valenciana, Ministerio de Educación, Cultura y Deporte (MECD). España, Fundación Española Per Amor a l’Art

مصطلحات موضوعية: movement disorders, ataxia, cerebellar atrophy, neurodegeneration with brain iron accumulation (NBIA), gene panel, exome sequencing

العلاقة: International Journal of Molecular Sciences, 23 (19), 11847.; PI18 /00147; PI21/00103; PROMETEO/2018/135; FPU15/00964; FI19/00072; https://www.mdpi.com/1422-0067/23/19/11847Test; https://idus.us.es/handle//11441/147014Test

الإتاحة: https://idus.us.es/handle//11441/147014Test

المؤلفون: Zanuttigh, Enrica, Derderian, Kevork, Güra, Miriam A., Geerlof, Arie, Di Meo, Ivano, Cavestro, Chiara, Hempfling, Stefan, Ortiz-Collazos, Stephanie, Mauthe, Mario, Kmieć, Tomasz, Cammarota, Eugenia, Panzeri, Maria Carla, Klopstock, Thomas, Sattler, Michael, Winkelmann, Juliane, Messias, Ana C., Iuso, Arcangela

مصطلحات موضوعية: info:eu-repo/classification/ddc, Article, C19orf12, mitochondria membrane protein-associated neurodegeneration (MPAN), neurodegeneration with brain iron accumulation (NBIA), autophagy, LC3, carbamazepine, ABT-737, LY294002, oridonin, paroxetine

وصف الملف: application/pdf

العلاقة: https://mediatum.ub.tum.de/1701699Test; https://mediatum.ub.tum.de/doc/1701699/document.pdfTest

الإتاحة: https://doi.org/10.3390/pharmaceutics15010267Test
https://mediatum.ub.tum.de/1701699Test
https://mediatum.ub.tum.de/doc/1701699/document.pdfTest