Optineurin inclusions occur in a minority of TDP-43 pos ...
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Optineurin inclusions occur in ...
Optineurin (OPTN) is a multifunctional protein involved in vesicular trafficking, signal transduction and gene expression. OPTN mutations were descr ...
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Clinicopathologic study on an A ...
We investigated a family manifesting amyotrophic lateral sclerosis (ALS) with a heterozygous E478G mutation in the optineurin (OPTN) gene. Clinicall ...
1.13 MB
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Expression analysis of dopamine ...
Dopaminergic (DA) neuron degeneration is a feature of brain aging but is markedly increased in patients with Parkinson’s disease (PD). Recent data i ...
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Glial nuclear aggregates of sup ...
The most common cause of amyotrophic lateral sclerosis (ALS) is mutations in superoxide dismutase-1 (SOD1). Since there is evidence for the involvem ...
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Motor neuron disease clinically ...
Motor neuron disease (MND) may present as an isolated lower motor neuron (LMN) disorder. Although the significance of pathological 43 kDa transactiv ...
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Adult grade II diffuse astrocyt ...
Diffuse astrocytomas (WHO grade II) typically present as slow-growing tumours showing significant cellular differentiation, but possessing a tendenc ...
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Increased dopaminergic cells an ...
Olfactory dysfunction is a frequent and early feature of patients with neurodegenerative disorders such as Alzheimer’s disease (AD) and Parkinson’s ...
1.63 MB
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Neuropathology underlying clini ...
Abnormal aggregates of the synaptic protein, a-synuclein, are the dominant pathology in syndromes known as the synucleinopathies. The cellular aggre ...
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The optic nerve head is the sit ...
The neurodegenerative disease glaucoma is characterised by the progressive death of retinal ganglion cells (RGCs) and structural damage to the optic ...
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A novel seven-octapeptide repea ...
Human prion diseases can be sporadic, inherited or acquired by infection and show considerable phenotypic heterogeneity. We describe the clinical, h ...
2.18 MB
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Qualification of the analytical ...
The close correlation between abnormally low pre-mortem cerebrospinal fluid (CSF) concentrations of amyloid-b1-42 (Ab1–42) and plaque burden measure ...
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Pre- and post-synaptic cortica ...
Amyloid imaging has identified cognitively normal older people with plaques as a group possibly at increased risk for developing Alzheimer’s disease ...
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New ependymal cells are born po ...
A heterogeneous population of ependymal cells lines the brain ventricles. The evidence about the origin and birth dates of these cell populations is ...
1.92 MB
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Alzheimer’s pathogenesis: is th ...
There is increasing interest in the early phase of Alzheimer’s disease before severe neuronal dysfunction occurs, but it is still not known when or ...
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Axonopathy is a compounding fac ...
Loss-of-function of the lysosomal enzyme galactosyl-ceramidase causes the accumulation of the lipid raft-associated sphingolipid psychosine, the dis ...
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1.82 MB
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The neuropathological basis of ...
Multiple sclerosis is the major inflammatory condition affecting the central nervous system (CNS) and is characterised by disseminated focal immune- ...
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Glutaminyl cyclase contributes ...
the hippocampal formation of Alzheimer’s disease (AD) patients, both focal and diffuse deposits of Ab peptides appear in a subregion- and layer-spec ...
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Pathogenic T cell responses aga ...
Inflammatory lesions in the central nervous system of patients with neuromyelitis optica are characterized by infiltration of T cells and deposition ...
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Neuropathological background of ...
Frontotemporal lobar degeneration (FTLD) is the umbrella term encompassing a heterogeneous group of pathological disorders. With recent discoveries, ...
1.14 MB
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Changes in the solubility and p ...
Lewy bodies are made from insoluble, phosphorylated a-synuclein, but the earliest changes that precipitate such pathology still remain conjecture. I ...
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Nerve biopsy: requirements for ...
In many instances, nerve biopsy is not necessary in the diagnostic work-up of a peripheral neuropathy. However, histological examination of a tissue ...
1.14 MB
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Assessment of BRAF V600E mutati ...
Activating mutations of the serine threonine kinase v-RAF murine sarcoma viral oncogene homolog B1 (BRAF) are frequent in benign and malignant human ...
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Clinicopathological correlates ...
Behavioral and psychological symptoms are commonly observed in a majority of demented patients at some time during the course of their illness. Many ...
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Glial dysfunction in the pathog ...
Parkinson’s disease (PD), dementia with Lewy bodies (DLB) and multiple system atrophy (MSA) are adult onset neurodegenerative disorders characterise ...
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Perivascular drainage of solute ...
The deposition of amyloid-b (Ab) peptides in the walls of leptomeningeal and cortical blood vessels as cerebral amyloid angiopathy (CAA) is present ...
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