نتایج جستجو برای: associated neurodegeneration

تعداد نتایج: 1531207  

2016
Jae-Hyeok Lee Jongkyu Park Ho-Sung Ryu Hyeyoung Park Young Eun Kim Jin Yong Hong Sang Ook Nam Young-Hee Sung Seung-Hwan Lee Jee-Young Lee Myung Jun Lee Tae-Hyoung Kim Chul Hyoung Lyoo Sun Ju Chung Seong Beom Koh Phil Hyu Lee Jin Whan Cho Mee Young Park Yun Joong Kim Young H. Sohn Beom Seok Jeon Myung Sik Lee

OBJECTIVE Neurodegeneration with brain iron accumulation (NBIA) represents a group of inherited movement disorders characterized by iron accumulation in the basal ganglia. Recent advances have included the identification of new causative genes and highlighted the wide phenotypic variation between and within the specific NBIA subtypes. This study aimed to investigate the current status of NBIA i...

Journal: :genetics in the 3rd millennium 0
امید آریانی omid aryani special medical center, tehran, iran مسعود هوشمند massoud houshmand فرهاد عصار زادگان farhad assarzadegan

protein aggregation is thought to be the pathological driving force responsible for neurodegenerative disorders such as alzheimer’s, parkinson’s, huntington’s, frontotemporal dementia, dementia with lewy bodies and prion diseases, however, it is not yet clear whether, or to what extent, the misfolded proteins are the cause of the diseases rather than the consequences. the aggregated proteins th...

Journal: :Journal of Neuroinflammation 2021

Abstract Background Cognitive decline occurs frequently in Parkinson’s disease (PD), which greatly decreases the quality of life patients. However, mechanisms remain to be investigated. Neuroinflammation mediated by overactivated microglia is a common pathological feature multiple neurological disorders, including PD. This study designed explore role cognitive deficits using rotenone-induced mo...

2013
Jonathan Janssens Christine Van Broeckhoven

Aggregation of misfolded TAR DNA-binding protein 43 (TDP-43) is a striking hallmark of neurodegenerative processes that are observed in several neurological disorders, and in particular in most patients diagnosed with frontotemporal lobar degeneration (FTLD) or amyotrophic lateral sclerosis (ALS). A direct causal link with TDP-43 brain proteinopathy was provided by the identification of pathoge...

Journal: :Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism 2012
Shruti V Kabadi Bogdan A Stoica Kimberly R Byrnes Marie Hanscom David J Loane Alan I Faden

Traumatic brain injury (TBI) induces secondary injury mechanisms, including cell-cycle activation (CCA), which lead to neuronal cell death, microglial activation, and neurologic dysfunction. Here, we show progressive neurodegeneration associated with microglial activation after TBI induced by controlled cortical impact (CCI), and also show that delayed treatment with the selective cyclin-depend...

Journal: :JAMA neurology 2014
Rahul S Desikan Wesley K Thompson Dominic Holland Christopher P Hess James B Brewer Henrik Zetterberg Kaj Blennow Ole A Andreassen Linda K McEvoy Bradley T Hyman Anders M Dale

IMPORTANCE Converging evidence indicates that clusterin, a chaperone glycoprotein, influences Alzheimer disease neurodegeneration. However, the precise role of clusterin in Alzheimer disease pathogenesis is still not well understood. OBJECTIVE To elucidate the relationship between clusterin, amyloid-β (Aβ), phosphorylated tau (p-tau), and the rate of brain atrophy over time among nondemented ...

2015
Pedro J. Garcia-Ruiz Joaquin Ayerbe Lydia Vela Desojo Cici E. Feliz Javier del Val Fernandez

Pantothenate kinase-associated neurodegeneration (PKAN) is usually associated with dystonia, which is typically severe and progressive over time. Pallidal stimulation (GPi DBS) has been carried out in selected cases of PKAN with drug-resistant dystonia with variable results. We report a 30-month follow-up study of a 30-year-old woman with PKAN-related dystonia treated with GPi DBS. Postoperativ...

Journal: :Journal of child neurology 2013
Rosemarie Rupps Juliette Hukin Martha Balicki Saadet Mercimek-Mahmutoglu Arndt Rolfs Cristina Dias

Hereditary spastic paraplegias and related genetically heterogeneous disorders may be difficult to distinguish clinically. The FA2H gene has been associated with autosomal recessive neurodegenerative phenotypes encompassing spastic paraplegia with or without dystonia, and demyelinating leukodystrophy. To date, few individuals with mutations in the FA2H gene have been described. We report a 5-ye...

Journal: :Molecular genetics and metabolism 2017
Penelope Hogarth Manju A Kurian Allison Gregory Barbara Csányi Tamara Zagustin Tomasz Kmiec Patricia Wood Angelika Klucken Natale Scalise Francesca Sofia Thomas Klopstock Giovanna Zorzi Nardo Nardocci Susan J Hayflick

a Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, USA b Department of Neurology, Oregon Health & Science University, Portland, USA c Molecular Neurosciences, Developmental Neurosciences Programme, UCL Institute of Child Health, London, UK d Department of Physiatry, Children's Healthcare of Atlanta, GA, USA e Department of Child Neurology, The Children's...

Journal: :Human Molecular Genetics 2009
Natalia Ninkina Owen Peters Steven Millership Hatem Salem Herman van der Putten Vladimir L. Buchman

The role of alpha-synuclein in pathogenesis of familial and idiopathic forms of Parkinson's disease, and other human disorders known as alpha-synucleinopathies, is well established. In contrast, the involvement of two other members of the synuclein family, beta-synuclein and gamma-synuclein, in the development and progression of neurodegeneration is poorly studied. However, there is a growing b...

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