Zobrazeno 1 - 10
of 837
pro vyhledávání: '"NBIA"'
Publikováno v:
Clinical Case Reports, Vol 12, Iss 7, Pp n/a-n/a (2024)
Key Clinical Message This case report presents a progressively declining 17‐year‐old patient with membrane protein‐associated neurodegeneration who demonstrated symptomatic improvements in her dysarthria, dysphagia, and gait, and objective impr
Externí odkaz:
https://doaj.org/article/a54e1e49d0fa470fb19e766fadeea974
Publikováno v:
Cells, Vol 13, Iss 16, p 1376 (2024)
Iron is an essential metal ion implicated in several cellular processes. However, the reactive nature of iron renders this metal ion potentially dangerous for cells, and its levels need to be tightly controlled. Alterations in the intracellular conce
Externí odkaz:
https://doaj.org/article/b9b863d74b6b4cc4a6699632fc5bd102
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/66b919109f5b40219e169a35b732aa94
Autor:
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
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive genetic disorder of PANK2, which enables mitochondrial synthesis of coenzyme A. Its loss causes neurodegeneration with iron accumulation primari
Externí odkaz:
https://doaj.org/article/397740004a1b45fa965e4a7adab07532
Autor:
Sihui Chen, Xiaohui Lai, Jiajia Fu, Jing Yang, Bi Zhao, Huifang Shang, Rui Huang, Xueping Chen
Publikováno v:
BMC Neurology, Vol 23, Iss 1, Pp 1-7 (2023)
Abstract Background Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare and devastating disease caused by pathogenic mutations in C19orf12 gene. MPAN is characterized by pathological iron accumulation in the brain and fewer t
Externí odkaz:
https://doaj.org/article/7a9974bd6dd74919aadedd919f538770
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
Akademický článek
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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
Neurodegeneração com acúmulo de ferro no cérebro associada a sintomas psiquiátricos de início tardio
Autor:
Júlio César Claudino dos Santos, Luiza Sarsur Ribeiro, Rafaella Iughetti da Costa, Eduardo Bordignon Peccin, Paulo Andre Pera Grabowski
Publikováno v:
Debates em Psiquiatria, Vol 12 (2022)
Introdução: A neurodegeneração com acúmulo de ferro cerebral (NBIA) é um grupo heterogêneo de doenças genéticas raras que levam ao acúmulo de ferro nos gânglios da base, levando a inúmeras desordens neurológicas. Esta doença tem sido as
Externí odkaz:
https://doaj.org/article/63bad3d89c454490ad3e481e309cdb50
Akademický článek
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