Zobrazeno 1 - 10
of 164
pro vyhledávání: '"neurodegeneration with brain iron accumulation (NBIA)"'
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/66b919109f5b40219e169a35b732aa94
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
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
Publikováno v:
Tehran University Medical Journal, Vol 78, Iss 2, Pp 58-68 (2020)
Neurodegeneration with brain iron accumulation (NBIA) is a rare set of inherited neurodegenerative disorders with abnormal accumulation of iron in basal ganglia. It is a clinically and genetically heterogeneous disorder that is characterized by movem
Externí odkaz:
https://doaj.org/article/96e044348476405eb557fb89c2cc238d
Autor:
Lena H.P. Vroegindeweij, Piotr A. Wielopolski, Agnita J.W. Boon, J.H. Paul Wilson, Rob M. Verdijk, Sipeng Zheng, Sylvestre Bonnet, Lucia Bossoni, Louise van der Weerd, Juan A. Hernandez-Tamames, Janneke G. Langendonk
Publikováno v:
NeuroImage, Vol 245, Iss , Pp 118752- (2021)
Aims: Non-invasive measures of brain iron content would be of great benefit in neurodegeneration with brain iron accumulation (NBIA) to serve as a biomarker for disease progression and evaluation of iron chelation therapy. Although magnetic resonance
Externí odkaz:
https://doaj.org/article/25680c7f65bc474789a8738d5494e084
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
Akademický článek
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Publikováno v:
Annals of Rehabilitation Medicine, Vol 42, Iss 2, Pp 363-367 (2018)
Pantothenate kinase-associated neurodegeneration (PKAN) is a neurodegenerative disorder characterized by iron accumulation in the globus pallidus (GP) of the brain (neurodegeneration with brain iron accumulation [NBIA]), which is characterized by dys
Externí odkaz:
https://doaj.org/article/ee9ac7cb5b4c4f61826449b60b5c48c8
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Publikováno v:
Annals of Indian Academy of Neurology, Vol 19, Iss 1, Pp 115-118 (2016)
Phospholipase A2-associated neurodegeneration (PLAN) comprises of three disorders with overlapping presentations. The most common of these is classical or infantile-onset phospholipase A2-associated neurodegeneration, also known as infantile neuroaxo
Externí odkaz:
https://doaj.org/article/e75c6ffb97944021a638f56c47e45f16