Dynamics of brain iron content and cortical pencil lining in healthy aging: An MRI study
Objective: To characterize the dynamics of age-dependent iron accumulation in the brain with susceptibility-weighted imaging (SWI). Background: Neurodegeneration with brain iron accumulation (NBIA) is characterized…Brain iron accumulation in Wilson disease measured by quantitative susceptibility mapping
Objective: To investigate whether cerebral iron deposits in Wilson disease (WD) patients are associated with decreased serum ceruloplasmin oxidase activity and/or clinical severity. Background:…Marc Chagall’s L’homme à La Tète Renversée (Man with His Head Thrown Back) – An Artistic Depiction of Severe Retrocollis in Neurodegeneration with Brain Iron Accumulation
Objective: To propose that Marc Chagall’s L’Homme À La Tète Renversée (Man With His Head Thrown Back) could be a depiction of severe retrocollis due…C19orf12 p.Thr11Met mutation is frequent among adult Turkish patients with MPAN
Objective: To genetically and clinically characterize a series of Turkish patients affected by neurodegeneration with brain iron accumulation (NBIA) compatible with an autosomal recessive form…The predominant parkinsonian phenotype in beta propeller associated neurodegeneration (BPAN)
Objective: Describe three BPAN patients with two different phenotypes and explore the phenomenology of patients reported in the literature. Background: De novo mutations in WD repeat…A computational model of iron transport between the blood circulation and the brain
Objective: To create a mechanistic computational model of iron transport between the circulation and brain, permitting in silico investigation of homeostatic regulation of iron at…Glial cells and iron accumulation in the brain of the Zitter rat
Objective: To investigate relationship between glial cell and iron accumulation in the brain of the Zitter rat, which is one of neurodegenerative disease model. Background:…Neurodegeneration with brain iron accumulation (NBIA): Two cases with different subtypes and a rare mutation
Objective: We present two cases with clinical, radiological and genetical (a very rare mutation) findings of neurodegeneration with brain iron accumulation (NBIA). Results: Case 1.…Mutant WDR45 links NBIA to impaired autophagy, mitochondrial dysfunction and oxidative stress
Objective: To examine the impact of mutant WDR45 on autophagy,mitochondrial function,and oxidative stress capacity in patient's fibroblasts. Background: Mutations in the WD repeat domain 45…The relevance of movement disorders gene panels in clinical practice: How many patients are we sorting out?
Objective: To investigate the impact of movement disorder gene panels in clinical practice and the proportion of patients receiving a definite genetic diagnosis through Next…
- « Previous Page
- 1
- …
- 4
- 5
- 6
- 7
- Next Page »