Zobrazeno 1 - 10
of 1 069
pro vyhledávání: '"neurodegeneration with brain iron accumulation"'
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/66b919109f5b40219e169a35b732aa94
Autor:
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
Publikováno v:
The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, Vol 59, Iss 1, Pp 1-4 (2023)
Abstract Background Brain iron accumulation neurodegeneration (NBIA) comprises a group of rare diseases characterized by deposits of this metal in brain structures. It presents a great variability of progression, which can be fast enough to lead the
Externí odkaz:
https://doaj.org/article/483a3cc9393e4d138313150d26d778bd
Autor:
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
Publikováno v:
Neural Regeneration Research, Vol 18, Iss 6, Pp 1196-1202 (2023)
Lipid peroxidation and iron accumulation are closely associated with neurodegenerative diseases, such as Alzheimer’s, Parkinson’s, and Huntington’s diseases, or neurodegeneration with brain iron accumulation disorders. Mitochondrial dysfunction
Externí odkaz:
https://doaj.org/article/6b03972c86ee4badb530ea9449247808
Autor:
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
Publikováno v:
Journal of Movement Disorders, Vol 15, Iss 3, Pp 241-248 (2022)
Objective To investigate the long-term clinical outcomes of pallidal deep brain stimulation (GPi-DBS) in patients with pantothenate kinase-associated neurodegeneration (PKAN). Methods We reviewed the records of patients with genetically confirmed PKA
Externí odkaz:
https://doaj.org/article/272c6da3b15142a283cc4397845bdf64
Publikováno v:
Türk Nöroloji Dergisi, Vol 28, Iss 2, Pp 118-121 (2022)
Neurodegeneration with brain iron accumulation (NBIA) encompasses a number of heritable disorders affecting children and adults characterized by diverse clinical manifestations and brain iron deposition detected on magnetic resonance imaging (MRI). T
Externí odkaz:
https://doaj.org/article/bceab3c0c1fd4d609cc87322286defbf
Autor:
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
Publikováno v:
Pharmaceuticals, Vol 16, Iss 10, p 1359 (2023)
The term neurodegeneration with brain iron accumulation (NBIA) brings together a broad set of progressive and disabling neurological genetic disorders in which iron is deposited preferentially in certain areas of the brain. Among NBIA disorders, the
Externí odkaz:
https://doaj.org/article/30fbb85db9794c40803877a8be747a45
Autor:
Yu. H. Antypkin, L. H. Kyrylova, O. O. Miroshnykov, O. O. Yuzva, L. Yu. Silaieva, O. V. Berehela, L. A. Myroniak
Publikováno v:
Zaporožskij Medicinskij Žurnal, Vol 23, Iss 5, Pp 715-722 (2021)
Aim. To analyze current data of scientific literature on the etiology, pathogenesis, approaches to the diagnosis and treatment of rare orphan disease – pantothenate kinase-associated neurodegeneration and to describe the clinical case of this disea
Externí odkaz:
https://doaj.org/article/176ee4a3e62e47ddb3f4359a1f05d4da
Autor:
Rachel M. Wise, Annika Wagener, Urban M. Fietzek, Thomas Klopstock, Eugene V. Mosharov, Fabio A. Zucca, David Sulzer, Luigi Zecca, Lena F. Burbulla
Publikováno v:
Neurobiology of Disease, Vol 175, Iss , Pp 105920- (2022)
Dopamine metabolism, alpha-synuclein pathology, and iron homeostasis have all been implicated as potential contributors to the unique vulnerability of substantia nigra dopaminergic neurons which preferentially decline in Parkinson's disease and some
Externí odkaz:
https://doaj.org/article/e6f361bf364946ad96e2c80a8b58ac4d
Akademický článek
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Autor:
Enrica Zanuttigh, Kevork Derderian, Miriam A. Güra, Arie Geerlof, Ivano Di Meo, Chiara Cavestro, Stefan Hempfling, Stephanie Ortiz-Collazos, Mario Mauthe, Tomasz Kmieć, Eugenia Cammarota, Maria Carla Panzeri, Thomas Klopstock, Michael Sattler, Juliane Winkelmann, Ana C. Messias, Arcangela Iuso
Publikováno v:
Pharmaceutics, Vol 15, Iss 1, p 267 (2023)
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a relentlessly progressive neurodegenerative disorder caused by mutations in the C19orf12 gene. C19orf12 has been implicated in playing a role in lipid metabolism, mitochondrial fu
Externí odkaz:
https://doaj.org/article/08ddda2e943348d48dfa60c232cfa9f8