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: 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: 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: Mónica Alvarez-Cordoba, Marina Villanueva-Paz, Irene Villalón-García, Suleva Povea-Cabello, Juan M Suárez-Rivero, Marta Talaverón-Rey, Javier Abril-Jaramillo, Ana Belén Vintimilla-Tosi, José A Sánchez-Alcázar

المصدر: Neural Regeneration Research, Vol 14, Iss 7, Pp 1177-1185 (2019)

مصطلحات موضوعية: neurodegeneration with brain iron accumulation, pantothenate kinase-associated neurodegeneration, pantothenate kinase 2, pantothenate, induced neurons, precision medicine, induced neuron, fibroblast, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.nrronline.org/article.asp?issn=1673-5374;year=2019;volume=14;issue=7;spage=1177;epage=1185;aulast=Alvarez-Cordoba; https://doaj.org/toc/1673-5374

URL الوصول: https://doaj.org/article/cad13e0d43f341b486e2d44e0537c2a5

المؤلفون: Khatri, D., Zizioli, D., TRIVEDI, AKANSHA, Borsani, G., Monti, E., Finazzi, D.

المساهمون: Khatri D., Zizioli D., Trivedi Akansha, Borsani G., Monti E., Finazzi D.

مصطلحات موضوعية: Coenzyme A, Neurodegeneration, Pantothenate Kinase 2 (PANK2), Pantothenate Kinase-Associated Neurodegeneration (PKAN), Zebrafish

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/30141000; info:eu-repo/semantics/altIdentifier/wos/WOS:000467933200003; volume:21; issue:2; firstpage:120; lastpage:131; numberofpages:12; journal:NEUROMOLECULAR MEDICINE; http://hdl.handle.net/11379/510920; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85052295569; http://www.springerlink.com/content/120555/

الاتاحة: http://hdl.handle.net/11379/510920
https://doi.org/10.1007/s12017-018-8508-8
http://www.springerlink.com/content/120555/

المؤلفون: Pagani, Francesca, Trivedi, Akansha, Khatri, Deepak, Zizioli, Daniela, Garrafa, Emirena, Mitola, Stefania, Finazzi, Dario

المساهمون: Pagani Francesca, Trivedi Akansha, Khatri Deepak, Zizioli Daniela, Garrafa Emirena, Mitola Stefania, Finazzi Dario

مصطلحات موضوعية: Angiogenesi, Coenzyme A, Human endothelial, Neurodegeneration with brain iron accumulation, Pantothenate kinase 2, Pantothenate kinase 2-associated neurodegeneration, Umbilical vein cell, Biochemistry, Molecular Medicine, Molecular Biology, Genetic, Oncology, Cancer Research

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/30221726; info:eu-repo/semantics/altIdentifier/wos/WOS:000446493000066; volume:18; issue:5; firstpage:4739; lastpage:4746; numberofpages:8; journal:MOLECULAR MEDICINE REPORTS; http://hdl.handle.net/11379/510923; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85053817755; https://www.spandidos-publications.com/mmr/18/5/4739/download

الاتاحة: http://hdl.handle.net/11379/510923
https://doi.org/10.3892/mmr.2018.9480
https://www.spandidos-publications.com/mmr/18/5/4739/download

المؤلفون: Sung-Hyouk Kim, Young-Hee Sung, Kee-Hyung Park, Yeung-Bae Lee, Hyeon-Mi Park, Dong Jin Shin, Gu-Hwan Kim

المصدر: Journal of Movement Disorders, Vol 2, Iss 1, Pp 45-47 (2009)

مصطلحات موضوعية: Pantothenate kinase 2, Pantothenate kinase-associated neurodegeneration, Dystonia, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://e-jmd.org/upload/jmd-2-1-45-12.pdf; https://doaj.org/toc/2005-940X; https://doaj.org/toc/2093-4939

URL الوصول: https://doaj.org/article/b4b83de8b0d5409ea3607d2e47d48bee

المؤلفون: Morgan, Neil V., Kurian, Manju, Spiegel, Ronald J.

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Nöroloji Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Hematoloji Anabilim Dalı., Cangül, Hakan, Özdemir, Özlem, Yakut, Tahsin, Okan, Mehmet Sait, Baytan, Birol, 8911611600, 26647804400, 6602802424, 6701707256, 6506622162

مصطلحات موضوعية: Neurodegeneration with brain iron accumulation, Pantothenate kinaseassociated neurodegeneration, PKAN, PANK2, Frameshift mutation, Consanguineous, Eye-of-the-tiger, Hallervorden-spatz-syndrome, Brain iron accumulation, Disease, Phenotype, Pediatrics, Child, Genetic counseling, Humans, Magnetic resonance imaging, Male, Molecular diagnostic techniques, Pantothenate kinase-associated neurodegeneration, Phosphotransferases (alcohol group acceptor), Prenatal diagnosis, Turkey, Neuroaxonal Dystrophies, Pantothenate kinase 2, Acanthocytosis, Article, Babinski reflex, Blood smear, Bone marrow biopsy, Case report

وصف الملف: application/pdf

Relation: Makale - Uluslararası Hakemli Dergi; Turkish Journal of Pediatrics; Yurt dışı; Cangül, H. vd. (2009). "Pantothenate kinase-associated neurodegeneration (PKAN): Molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene". Turkish Journal of Pediatrics, 51(2), 161-165.; http://hdl.handle.net/11452/24646; http://www.turkishjournalpediatrics.org/uploads/pdf_TJP_624.pdf; 000266291500011; 2-s2.0-67149129968; 161; 165; 51

الاتاحة: http://hdl.handle.net/11452/24646
http://www.turkishjournalpediatrics.org/uploads/pdf_TJP_624.pdf

المؤلفون: Marta Talaverón-Rey, Suleva Povea-Cabello, José Antonio Sánchez-Alcázar, Mónica Álvarez-Córdoba, Ana Belén Vintimilla-Tosi, Javier Abril-Jaramillo, Irene Villalón-García, Juan M. Suárez-Rivero, Marina Villanueva-Paz

المساهمون: Instituto de Salud Carlos III, European Commission, Junta de Andalucía, Asociación de Enfermos de Neurodegeneración con Acumulación Cerebral de Hierro (España)

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
Neural Regeneration Research, Vol 14, Iss 7, Pp 1177-1185 (2019)
Neural Regeneration Research

مصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, Neurodegeneration with brain iron accumulation, Review, Pantothenate kinase-associated neurodegeneration, lcsh:RC346-429, Lipofuscin, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Induced neuron, medicine, Pantothenate, lcsh:Neurology. Diseases of the nervous system, Dystonia, business.industry, Pantothenate kinase 2, Induced neurons, Neurodegeneration, Precision medicine, PANK2, medicine.disease, Phenotype, neurodegeneration with brain iron accumulation, pantothenate kinase-associated neurodegeneration, pantothenate kinase 2, pantothenate, induced neurons, precision medicine, induced neuron, fibroblast, 030104 developmental biology, Cancer research, Fibroblast, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b993bef532a3ff4f261a35b5f4cf236
http://hdl.handle.net/10261/209583

المؤلفون: Esra Battaloglu, Nihan Hande Akçakaya, Murat Gultekin, Hasmet Hanagasi, Mefkure Eraksoy, Zuhal Yapici, Recep Alp, Pinar Tekturk, Gokcen Akar, Birdal Bilir, Remzi Yigiter, Ugur Ozbek, Sibel Aylin Ugur Iseri, Sultan Cagirici

المصدر: Clinical Neurology and Neurosurgery. 154:34-42

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Pathology, Turkey, Late onset, Disease, 03 medical and health sciences, 0302 clinical medicine, PANTOTHENATE KINASE 2, medicine, Humans, Missense mutation, Age of Onset, Gait Disorders, Neurologic, Pantothenate Kinase-Associated Neurodegeneration, Early onset, Dystonia, business.industry, Neurodegeneration, General Medicine, medicine.disease, PANK2, Pedigree, Phosphotransferases (Alcohol Group Acceptor), 030104 developmental biology, Disease Progression, Surgery, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9435dd32615bc06374d0ce5ef68e122
https://doi.org/10.1016/j.clineuro.2017.01.011

المؤلفون: Akansha Trivedi, Eugenio Monti, Dario Finazzi, Daniela Zizioli, Deepak Khatri, Giuseppe Borsani

المصدر: Neuromolecular medicine. 21(2)

مصطلحات موضوعية: 0301 basic medicine, Embryo, Nonmammalian, Coenzyme A, Mutant, Mutation, Missense, Embryonic Development, Motor Activity, Pantothenic Acid, Animals, Genetically Modified, 03 medical and health sciences, Cellular and Molecular Neuroscience, chemistry.chemical_compound, 0302 clinical medicine, Loss of Function Mutation, medicine, Animals, Humans, RNA, Messenger, Transgenes, Kinase activity, Neurodegeneration, Zebrafish, biology, Pantothenate Kinase-Associated Neurodegeneration (PKAN), Chemistry, Zebrafish Proteins, PANK2, medicine.disease, biology.organism_classification, Phenotype, Pantothenate Kinase 2 (PANK2), Recombinant Proteins, Cell biology, Up-Regulation, Phosphotransferases (Alcohol Group Acceptor), 030104 developmental biology, Neurology, Molecular Medicine, Phosphorylation, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a299b5fd03757af69422f7668fa9292
https://pubmed.ncbi.nlm.nih.gov/30141000

المؤلفون: Daniela Zizioli, Stefania Mitola, Deepak Khatri, Francesca Pagani, Emirena Garrafa, Dario Finazzi, Akansha Trivedi

المصدر: Molecular medicine reports. 18(5)

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Angiogenesis, Neurodegeneration with brain iron accumulation, Coenzyme A, Iron, Neovascularization, Physiologic, Human endothelial, Pantothenate kinase 2, Pantothenate kinase 2-associated neurodegeneration, Umbilical vein cells, Biochemistry, Molecular Medicine, Molecular Biology, Genetics, Oncology, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Transferases, medicine, Morphogenesis, Gene silencing, Animals, Humans, Zebrafish, Pantothenate Kinase-Associated Neurodegeneration, Regulation of gene expression, Chemistry, Neurodegeneration, Brain, Endothelial Cells, Zebrafish Proteins, PANK2, medicine.disease, Cell biology, Mitochondria, Endothelial stem cell, Phosphotransferases (Alcohol Group Acceptor), 030104 developmental biology, Gene Expression Regulation, Mutation, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0af957f2bbe69ca9c6024dcbd4dbbf3d
https://pubmed.ncbi.nlm.nih.gov/30221726

المؤلفون: Hanene Benrhouma, Thouraya Ben Younes, Ilhem Ben Youssef-Turki, Khaoula Jemai, Ichraf Kraoua, Aida Rouissi, Hedia Klaa

المصدر: Revue Neurologique. 175:S122

مصطلحات موضوعية: Gynecology, medicine.medical_specialty, PANTOTHENATE KINASE 2, Neurology, business.industry, Medicine, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::55537c8c0e40cc8a7ab868b7a8b3d5cf
https://doi.org/10.1016/j.neurol.2019.01.322

المؤلفون: Čolak, Karla

المساهمون: Barišić, Nina, Ćuk, Mario, Jelušić, Marija

مصطلحات موضوعية: iron accumulation, pantothenate kinase 2, neurodegeneration, dystonia, “eye of the tiger“ sign

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______4137::6fa3e71016a6226c84ebbc38fb21d065
https://urn.nsk.hr/urn:nbn:hr:105:954664

المؤلفون: Dong Jin Shin, Gu-Hwan Kim, Yeung-Bae Lee, Hyeon-Mi Park, Kee-Hyung Park, Kim Sh, Young Hee Sung

المصدر: Journal of Movement Disorders
Journal of Movement Disorders, Vol 2, Iss 1, Pp 45-47 (2009)

مصطلحات موضوعية: Dystonia, Pathology, medicine.medical_specialty, Pantothenate kinase-associated neurodegeneration, business.industry, Neurodegeneration with brain iron accumulation, Pantothenate kinase 2, Neurodegeneration, Case Report, medicine.disease, Compound heterozygosity, PANK2, lcsh:RC346-429, lcsh:RC321-571, PANTOTHENATE KINASE 2, Neurology, medicine, Neurology (clinical), business, Gene, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, lcsh:Neurology. Diseases of the nervous system

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43e75968ddb7aa398fec0b0f507f9dbc
http://europepmc.org/articles/PMC4027700

المؤلفون: Jean-Jacques Martin, Amaryllis H. Van Craenenbroeck, Marilien Gebruers, Patrick Cras

المصدر: Movement Disorders. 25:2486-2492

مصطلحات موضوعية: Involuntary movement, Hallervorden-Spatz disease, PANTOTHENATE KINASE 2, Neurology, Neurology (clinical), Case presentation, Psychology, Classics, Developmental psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::475b106d1ec94859c4da7bd26f378dab
https://doi.org/10.1002/mds.23217

المؤلفون: Chih-Ming Lin, Chaw-Liang Chang

المصدر: Brain and Behavior

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Eye of the tiger sign, NBIA, Neurodegeneration with brain iron accumulation, business.industry, pantothenate kinase 2, Neurodegeneration, PKAN, Hallervorden-Spatz syndrome, medicine.disease, Pantothenate kinase-associated neurodegeneration, Behavioral Neuroscience, PANTOTHENATE KINASE 2, Pathognomonic, pantothenate kinase-associated neurodegeneration, Commentaries, eye-of-the-tiger sign, medicine, Brain magnetic resonance imaging, sense organs, business, Neuroscience, Sign (mathematics)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4563bf24ba1b45ca1d67979178076bc6
https://pubmed.ncbi.nlm.nih.gov/22398981

المؤلفون: Kolar Vishwanath Vinod, Tarun Kumar Dutta, S Giridharan

المصدر: Annals of Neurosciences

مصطلحات موضوعية: Dystonia, Pediatrics, medicine.medical_specialty, Pathology, Unusual case, medicine.diagnostic_test, business.industry, General Neuroscience, pantothenate kinase 2, Choreoathetosis, neurodegeneration, Magnetic resonance imaging, Case Report, Disease, medicine.disease, Neuroreport, Hallervorden-Spatz syndrome, extrapyramidal, Dysarthria, eye of the tiger, medicine, dystonia, medicine.symptom, Young female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dd43997e77f9c2900e9f019dc49532a
http://europepmc.org/articles/PMC4116949

المؤلفون: Venco, Paola, Valletta, Lorella, Tiranti, Valeria, DUSI, SABRINA

المساهمون: Venco, Paola, Dusi, Sabrina, Valletta, Lorella, Tiranti, Valeria

مصطلحات موضوعية: Brain, Coenzyme A (CoA), Inborn error of metabolism, Mitochondrion, Neurodegeneration, Pantothenate kinase 2 (PANK2), Animal, Coenzyme A, Human, Iron, Metabolism, Inborn Error, Mitochondria, Neurodegenerative Disease, Phosphotransferases (Alcohol Group Acceptor), Biochemistry, Medicine (all)

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/25110004; info:eu-repo/semantics/altIdentifier/wos/WOS:000340329200057; volume:42; issue:4; firstpage:1069; lastpage:1074; numberofpages:6; journal:BIOCHEMICAL SOCIETY TRANSACTIONS; http://hdl.handle.net/11585/581780; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84905842273; http://www.biochemsoctrans.org/bst/042/1069/0421069.pdf

الاتاحة: http://hdl.handle.net/11585/581780
https://doi.org/10.1042/BST20140106
http://www.biochemsoctrans.org/bst/042/1069/0421069.pdf

المؤلفون: Čolak, Karla

المساهمون: Barišić, Nina

مصطلحات موضوعية: BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti. Pedijatrija, BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences. Pediatrics, neurodegenerativna bolest, odlaganje željeza, distonija, pantotenat kinaza, znak „tigrovog oka“, neurodegeneration, iron accumulation, dystonia, pantothenate kinase 2, “eye of the tiger“ sign

وصف الملف: application/pdf

Relation: https://zir.nsk.hr/islandora/object/mef:839; https://urn.nsk.hr/urn:nbn:hr:105:954664; https://repozitorij.unizg.hr/islandora/object/mef:839; https://repozitorij.unizg.hr/islandora/object/mef:839/datastream/PDF

الاتاحة: https://zir.nsk.hr/islandora/object/mef:839
https://urn.nsk.hr/urn:nbn:hr:105:954664
https://repozitorij.unizg.hr/islandora/object/mef:839
https://repozitorij.unizg.hr/islandora/object/mef:839/datastream/PDF