المؤلفون: IRCCS San Raffaele Roma, San Raffaele Telematic University, University of Urbino 'Carlo Bo', University of Cassino and Southern Lazio, University of Roma La Sapienza, Politecnico di Milano

المصدر: Neurodegenerative Diseases Progression Markers (MARKERS-NDD): a Real-world Data Longitudinal Prospective Study

المصدر: Resolving Unsolved Rare Diseases : Functional Tests and New Diagnosis Strategy to Study Genetic Variants From High-throughput Sequencing (RID)

المؤلفون: Seventh Framework Programme, NBIA Alliance

المساهمون: Prof. Thomas Klopstock, Prof. Dr. med.

المصدر: TIRCON International NBIA (Neurodegeneration Associated With Brain Iron Accumulation) Patient Registry and Natural History Study
Kalman B, Lautenschlaeger R, Kohlmayer F, Buchner B, Kmiec T, Klopstock T, Kuhn KA. An international registry for neurodegeneration with brain iron accumulation. Orphanet J Rare Dis. 2012 Sep 17;7:66. doi: 10.1186/1750-1172-7-66.
Klopstock T, Tricta F, Neumayr L, Karin I, Zorzi G, Fradette C, Kmiec T, Buchner B, Steele HE, Horvath R, Chinnery PF, Basu A, Kupper C, Neuhofer C, Kalman B, Dusek P, Yapici Z, Wilson I, Zhao F, Zibordi F, Nardocci N, Aguilar C, Hayflick SJ, Spino M, Blamire AM, Hogarth P, Vichinsky E. Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study. Lancet Neurol. 2019 Jul;18(7):631-642. doi: 10.1016/S1474-4422(19)30142-5.
Karin I, Buchner B, Gauzy F, Klucken A, Klopstock T. Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON)-An International Network on Care and Research for Patients With Neurodegeneration With Brain Iron Accumulation (NBIA). Front Neurol. 2021 Feb 22;12:642228. doi: 10.3389/fneur.2021.642228. eCollection 2021.
Iankova V, Karin I, Klopstock T, Schneider SA. Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders. Front Neurol. 2021 Apr 15;12:629414. doi: 10.3389/fneur.2021.629414. eCollection 2021.

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: Soharth Hasnat, M. Nazmul Hoque, M Murshida Mahbub, Tahsin Islam Sakif, A.D.A. Shahinuzzaman, Tofazzal Islam

المصدر: Heliyon, Vol 10, Iss 14, Pp e34544- (2024)

مصطلحات موضوعية: Pangenome, Clostridia, Toxin, Drug target, Pantothenate kinase, Bacteriostatic, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405844024105750; https://doaj.org/toc/2405-8440

URL الوصول: https://doaj.org/article/5772f2a9d44c4d36a4192402a18ef2f0

المساهمون: Dr. Gian Luca Forni, MD

المصدر: Ferrochelating Treatment in Patients Affected by "Neurodegeneration With Brain Iron Accumulation" (NBIA)
Forni GL, Balocco M, Cremonesi L, Abbruzzese G, Parodi RC, Marchese R. Regression of symptoms after selective iron chelation therapy in a case of neurodegeneration with brain iron accumulation. Mov Disord. 2008 Apr 30;23(6):904-7. doi: 10.1002/mds.22002.
Abbruzzese G, Cossu G, Balocco M, Marchese R, Murgia D, Melis M, Galanello R, Barella S, Matta G, Ruffinengo U, Bonuccelli U, Forni GL. A pilot trial of deferiprone for neurodegeneration with brain iron accumulation. Haematologica. 2011 Nov;96(11):1708-11. doi: 10.3324/haematol.2011.043018. Epub 2011 Jul 26.

المصدر: The Compassionate Use of Deferiprone in Patients With Pantothenate Kinase-Associated Neurodegeneration

المؤلفون: Institut National de la Santé Et de la Recherche Médicale, France

المصدر: Testing of NBIA Genes: Analysis of Genetic Heterogeneity and Validation of Mitochondrial Markers for Assessing Causality of Sequence Variants.

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: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Washington State University, Oregon State University, Spoonbill Foundation

المساهمون: Penelope Hogarth, Professor

المصدر: A Phase 2 Study of a Vitamin Metabolite for PKAN

المؤلفون: Hirotaka Kudo, Sho Ono, Kenta Abe, Mami Matsuda, Tomohisa Hasunuma, Tomoyasu Nishizawa, Munehiko Asayama, Hirofumi Nishihara, Shigeru Chohnan

المصدر: Microbial Cell Factories, Vol 22, Iss 1, Pp 1-13 (2023)

مصطلحات موضوعية: Coenzyme A, Acetyl-CoA, Pantothenate kinase, Poly(3-hydroxybutyrate), Escherichia coli, Pantothenic acid, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1475-2859

URL الوصول: https://doaj.org/article/5375cfa8eb5c4f3d86d31981d33055bc

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

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-16 (2022)

مصطلحات موضوعية: Pantothenate kinase, Pantothenate kinase-associated neurodegeneration, Coenzyme A, Acyl carrier protein, Pantothenate, Pantethine, Medicine

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/25dc1fcca1da406d810dd2635ade6c2f

المؤلفون: Ayesha Sardar, Muhammad Ashfaq, Bader-U-Nisa, Aijaz Ahmed, Hira Waseem

المصدر: JLUMHS, Vol 21, Iss 04, Pp 296-300 (2022)

مصطلحات موضوعية: dystonia, hallervorden-spatz disease, tiger-eye appearance, movement disorder, pantothenate kinase two deficiency, Medicine

وصف الملف: electronic resource

Relation: https://www.lumhs.edu.pk/jlumhs/Vol21No04/12.pdf; https://doaj.org/toc/1729-0341; https://doaj.org/toc/2309-8627

URL الوصول: https://doaj.org/article/ea9e7a9ca9f94f62823c8cc0beccee70

المصدر: Efficacy, Safety, and Tolerability of Fosmetpantotenate (RE-024), a Phosphopantothenate Replacement Therapy, in Pantothenate Kinase-Associated Neurodegeneration (PKAN) Patients: A Randomized, Double-Blind, Placebo-Controlled Study With an Open-Label Extension
Klopstock T, Escolar ML, Marshall RD, Perez-Duenas B, Tuller S, Videnovic A, Greblikas F. The FOsmetpantotenate Replacement Therapy (FORT) randomized, double-blind, Placebo-controlled pivotal trial: Study design and development methodology of a novel primary efficacy outcome in patients with pantothenate kinase-associated neurodegeneration. Clin Trials. 2019 Aug;16(4):410-418. doi: 10.1177/1740774519845673. Epub 2019 May 6.

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

Relation: http://www.e-jmd.org/upload/jmd-22002.pdf; https://doaj.org/toc/2005-940X; https://doaj.org/toc/2093-4939

URL الوصول: https://doaj.org/article/272c6da3b15142a283cc4397845bdf64

المؤلفون: Yanan Li, Jeffrey Steinberg, Zane Coleman, Shubo Wang, Chitra Subramanian, Yimei Li, Zoltan Patay, Walter Akers, Charles O. Rock, Suzanne Jackowski, Puneet Bagga

المصدر: Journal of Translational Medicine, Vol 20, Iss 1, Pp 1-7 (2022)

مصطلحات موضوعية: Pantothenate kinase, Coenzyme A, Neurodegeneration, Pantothenate kinase-associated neurodegeneration, 1H magnetic resonance spectroscopy, Metabolites, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-5876

URL الوصول: https://doaj.org/article/f471643e687d4de7b4380850486b58d0

المؤلفون: Oregon Health and Science University

المساهمون: Susan J. Hayflick, Professor & Chair, Molecular & Medical Genetics

المصدر: NBIAready: Online Collection of Natural History Patient-reported Outcome Measures

المصدر: Long-term Safety and Efficacy Study of Deferiprone in Patients With Pantothenate Kinase-Associated Neurodegeneration (PKAN)

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