المؤلفون: Costa, Matilde Registo

مصطلحات موضوعية: Pantothenate kinase-associated neurodegeneration, Case Report, Inherited retinal dystrophies, PANK2 gene, Next Generation Sequencing, Neurodegenerescência associada à pantotenato quinase, Relato de caso, Distrofias hereditárias da retina, gene PANK2, Sequenciação de nova geração

الاتاحة: https://hdl.handle.net/10316/115911

المؤلفون: Guo Hong, Zhongwen Zhang, Peiyi Wang, Guoyang Li, Wenli Zhang, Huahui Zou, Xiaoguang Luo

المصدر: Frontiers in Human Neuroscience, Vol 18 (2024)

مصطلحات موضوعية: pantothenate kinase-associated neurodegeneration (PKAN), PANK2 mutation, tiger’s eye sign, gene mutation, asymmetric bilateral deep brain stimulation treatment, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnhum.2024.1448606/full; https://doaj.org/toc/1662-5161

URL الوصول: https://doaj.org/article/7b34ce6745e3481492d0b25bd1050137

المؤلفون: Jun Egawa, Vance P. Lemmon, Toshiyuki Someya

المصدر: Frontiers in Neurology, Vol 15 (2024)

مصطلحات موضوعية: autism spectrum disorder, Trio gene, PANK2 gene, sensory processing, social isolation, phenotypic hierarchies, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2024.1508494/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/aa82abb1a41c4c55bff1f470a40941ab

المؤلفون: Thomas Klopstock, Saadet Mercimek-Andrews, Agnieszka Jurecka, Patricia Wood, Maciej Cwyl, Angelika Klucken, Antonio López, Roberta Scalise, Andrea Valle, Fatemeh Mollet, Belen Perez-Duenas, Marta Skowronska, Magdalena Chroscinska-Krawczyk, Maria Luisa Escolar, Anna Wade, David Rintell

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: Hallervorden–Spatz syndrome, NBIA, Neurodegeneration, Iron accumulation, Dystonia, PANK2, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/397740004a1b45fa965e4a7adab07532

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

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-23 (2023)

مصطلحات موضوعية: Pantothenate kinase, PANK2, Pantothenate kinase-associated neurodegeneration, PKAN, Coenzyme A, Mitochondria, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/a9c9d7d4ff2e4fdeafccf4fbfe00f6d4

المؤلفون: Siqi Dong, Ya Tuo, Zihan Qi, Yuanfeng Zhang, Xiaoni Liu, Ping Huang, Xiangjun Chen

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: PANK2 mutation, pantothenate kinase-associated neurodegeneration (PKAN), atypical PKAN, case report, autism spectral disorder (ASD), Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1118076/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/c3f5449d26f34a2791d0e218a05b7e6b

المؤلفون: Yilun Tao, Chen Zhao, Dong Han, Yiju Wei, Lihong Wang, Wenxia Song, Xiaoze Li

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: PANK2 gene, pantothenate kinase-associated neurodegeneration, whole exome sequencing, case report, review, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1170557/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/d338bfb2d0b94bb6b8706f7495f27b5e

المؤلفون: Chiara Cavestro, Daria Diodato, Valeria Tiranti, Ivano Di Meo

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 6; Pages: 5951

مصطلحات موضوعية: coenzyme A, PANK2, PPCS, PPCDC, COASY, neurodegeneration, NBIA, cardiomyopathy, iron accumulation

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Endocrinology and Metabolism; https://dx.doi.org/10.3390/ijms24065951

الاتاحة: https://doi.org/10.3390/ijms24065951

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 1359, 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

Relation: https://www.mdpi.com/1424-8247/16/10/1359; https://doaj.org/toc/1424-8247; https://doaj.org/article/30fbb85db9794c40803877a8be747a45

الاتاحة: https://doi.org/10.3390/ph16101359
https://doaj.org/article/30fbb85db9794c40803877a8be747a45

المؤلفون: Wen-Bin Li, Nan-Xiang Shen, Chao Zhang, Huan-Cheng Xie, Zong-Yan Li, Li Cao, Li-Zhi Chen, Yuan-jin Zeng, Cui-Xia Fan, Qian Chen, Yi-Wu Shi, Xing-Wang Song

المصدر: Frontiers in Aging Neuroscience, Vol 14 (2022)

مصطلحات موضوعية: PANK2, mutation, mitochondria, severity, pKAN, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnagi.2022.848919/full; https://doaj.org/toc/1663-4365

URL الوصول: https://doaj.org/article/4b3c1263d5d345f4a8900d051b8c1342

المؤلفون: Maike Werning (Center for Medical Biochemistry, Max Perutz Labs, Medical University of Vienna), Verena Dobretzberger (Center for Medical Biochemistry, Max Perutz Labs, Medical University of Vienna), Martin Brenner (Functional and Evolutionary Ecology, Faculty of Life Sciences, University of Vienna), Ernst W. Müllner (Center for Medical Biochemistry, Max Perutz Labs, Medical University of Vienna), Georg Mlynek (Department of Structural and Computational Biology, Centre for Molecular Biology, University of Vienna), Kristina Djinovic-Carugo (Department of Structural and Computational Biology, Centre for Molecular Biology, University of Vienna), David M. Baron (Department of Anaesthesia, Intensive Care Medicine and Pain Medicine, Medical University of Vienna), Lena Fragner (Functional and Evolutionary Ecology, Faculty of Life Sciences, University of Vienna), Almut T. Bischoff (Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-University (LMU Klinikum)), Boriana Büchner (Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-University (LMU Klinikum)), Thomas Klopstock (Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-University (LMU Klinikum)), Wolfram Weckwerth (Functional and Evolutionary Ecology, Faculty of Life Sciences, University of Vienna), Ulrich Salzer (Center for Medical Biochemistry, Max Perutz Labs, Medical University of Vienna)

المصدر: Biomolecules ; issn:2218-273X

مصطلحات موضوعية: pantothenate kinase-associated neurodegeneration, neurodegeneration with brain iron accumulation, pantothenate kinase 2, acanthocytes, PANK2 mutations, erythrocyte metabolome

وصف الملف: application/pdf

Relation: hdl:11353/10.1675568; https://phaidra.univie.ac.at/o:1675568

الاتاحة: https://doi.org/10.3390/biom12020325
https://phaidra.univie.ac.at/o:1675568

المؤلفون: Mignani L., Zizioli D., Khatri D., Facchinello N., Schiavone M., De Palma G., Finazzi D.

المساهمون: Mignani L., Zizioli D., Khatri D., Facchinello N., Schiavone M., De Palma G., Finazzi D.

مصطلحات موضوعية: Coenzyme A, iron, neurodegeneration, PANK2, zebrafish

Relation: info:eu-repo/semantics/altIdentifier/pmid/36361705; info:eu-repo/semantics/altIdentifier/wos/WOS:000881112900001; volume:23; issue:21; firstpage:12914; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11379/567124; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85141862687

الاتاحة: https://hdl.handle.net/11379/567124
https://doi.org/10.3390/ijms232112914

المؤلفون: Werning, Maike, Dobretzberger, Verena, Klopstock, Thomas, Weckwerth, Wolfram, Salzer, Ulrich, Brenner, Martin, Müllner, Ernst W, Mlynek, Georg, Djinovic-Carugo, Kristina, Baron, David M, Fragner, Lena, Bischoff, Almut T, Büchner, Boriana

المصدر: Biomolecules 12(2), 325 (2022). doi:10.3390/biom12020325

مصطلحات موضوعية: info:eu-repo/classification/ddc/570, Acetyl Coenzyme A, Citrates, Citric Acid, Erythrocytes: metabolism, Humans, Iron: metabolism, Mutation, Neurodegenerative Diseases, Pantothenate Kinase-Associated Neurodegeneration: genetics, Pantothenate Kinase-Associated Neurodegeneration: pathology, Phosphotransferases (Alcohol Group Acceptor), Protein Isoforms: genetics, PANK2 mutations, acanthocytes, erythrocyte metabolome, neurodegeneration with brain iron accumulation, pantothenate kinase 2, pantothenate kinase-associated neurodegeneration, Protein Isoforms, Iron, pantothenate kinase

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:35204826; info:eu-repo/semantics/altIdentifier/issn/2218-273X; https://pub.dzne.de/record/163638; https://pub.dzne.de/search?p=id:%22DZNE-2022-00384%22

الاتاحة: https://pub.dzne.de/record/163638
https://pub.dzne.de/search?p=id:%22DZNE-2022-00384%22

المؤلفون: Svetel Marina, Novaković Ivana, Tomić Svetlana, Kresojević Nikola, Kostić Vladimir

المصدر: Srpski Arhiv za Celokupno Lekarstvo, Vol 148, Iss 3-4, Pp 203-206 (2020)

مصطلحات موضوعية: neurodegeneration with brain iron accumulation, pantothenate kinase-associated neurodegeneration, pank2, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0370-8179

URL الوصول: https://doaj.org/article/1334be64b2504557ad8d68808b1f3ff1

المؤلفون: Suh Young Jeong, Penelope Hogarth, Andrew Placzek, Allison M Gregory, Rachel Fox, Dolly Zhen, Jeffrey Hamada, Marianne van der Zwaag, Roald Lambrechts, Haihong Jin, Aaron Nilsen, Jared Cobb, Thao Pham, Nora Gray, Martina Ralle, Megan Duffy, Leila Schwanemann, Puneet Rai, Alison Freed, Katrina Wakeman, Randall L Woltjer, Ody CM Sibon, Susan J Hayflick

المصدر: EMBO Molecular Medicine, Vol 11, Iss 12, Pp 1-17 (2019)

مصطلحات موضوعية: 4′‐phosphopantetheine, coenzyme A, NBIA, PANK2, PKAN, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

URL الوصول: https://doaj.org/article/39dd68cc193f40f0bd70717b8309a877

المؤلفون: Ali S. Shalash, Thomas W. Rösler, Ibrahim Y. Abdelrahman, Hatem S. Abulmakarem, Stefanie H. Müller, Franziska Hopfner, Gregor Kuhlenbäumer, Günter U. Höglinger, Mohamed Salama

المصدر: Heliyon, Vol 7, Iss 7, Pp e07469- (2021)

مصطلحات موضوعية: Pantothenate kinase-associated neurodegeneration, PANK2, Neurodegeneration iron accumulation, Genetics, Dystonia, Parkinsonism, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405844021015723; https://doaj.org/toc/2405-8440

URL الوصول: https://doaj.org/article/f483bbcf535747b284208eaac29143b7

المؤلفون: Mignani L., Gnutti B., Zizioli D., Finazzi D.

المساهمون: Mignani L., Gnutti B., Zizioli D., Finazzi D.

مصطلحات موضوعية: Coasy, Coenzyme A, COPAN, Iron, Neurodegeneration, Pank2, PKAN

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/34439650; info:eu-repo/semantics/altIdentifier/wos/WOS:000688891300001; volume:11; issue:8; journal:BRAIN SCIENCES; http://hdl.handle.net/11379/552248; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85112096354

الاتاحة: http://hdl.handle.net/11379/552248
https://doi.org/10.3390/brainsci11081031

المؤلفون: Svetel Marina, Hartig Monika, Cvetković Dragana, Beaubois Cyrielle, Maksić Jasmina, Novaković Ivana, Krajinović Maja, Kostić Vladimir

المصدر: Archives of Biological Sciences, Vol 71, Iss 2, Pp 275-280 (2019)

مصطلحات موضوعية: founder effect, PANK2 mutation, phenotype, PKAN, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0354-4664; https://doaj.org/toc/1821-4339

URL الوصول: https://doaj.org/article/c43028b92d0d4323beb02b49f076c1ef

المؤلفون: Pereira, Alessandra, Fischinger Moura de Souza, Carolina, Álvarez-Córdoba, Mónica, Reche-López, Diana, Sánchez-Alcázar, José Antonio

المساهمون: Instituto de Salud Carlos III, Junta de Andalucía

مصطلحات موضوعية: Optic nerve atrophy, molecular genetic testing, https :// plataformabrasil, Derived cellular models, Critical proteins involved, Cellular models derived, Baseline neurological medication, 4 ′- phosphopantetheine, Residual enzyme levels, Acp expression levels, Multitarget complex supplements, Mitochondrial respiratory complex, Essential metabolic intermediates, Widespread nbia disorders, Induce coa deficiency, Fatty acid biosynthesis, Altered pank2 activity, Brain iron accumulation, Three pkan patients, Iron accumulation, Low levels, Mitochondrial pathways, Metabolic processes, Adjuvant supplements, Brain mri, Brain characterized, “ eye, Vitro patient, Vitamin e, Trial registration

وصف الملف: application/pdf

Relation: Pereira, Alessandra; Fischinger Moura de Souza, Carolina; Álvarez-Córdoba, Mónica; Reche-López, Diana; Sánchez-Alcázar, José Antonio. A therapeutic approach to pantothenate kinase associated neurodegeneration: a pilot study. https://doi.org/10.1186/s13023-024-03453-x . http://hdl.handle.net/10261/375828; https://doi.org/10.6084/m9.figshare.27928498.v1; Sí; http://hdl.handle.net/10261/375843

الاتاحة: http://hdl.handle.net/10261/375843
https://doi.org/10.6084/m9.figshare.27928498.v1

المؤلفون: Hassan Dastsooz, Hamid Nemati, Mohammad Ali Farazi Fard, Majid Fardaei, Mohammad Ali Faghihi

المصدر: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-10 (2017)

مصطلحات موضوعية: PLA2G6, PKAN, NBIA, PANK2, Case report, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-017-0439-y; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/1d96a4aae30c4572a36139711664b267