Molecular biology and pathology of prion strains in spo ...
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Molecular biology and pathology ...
Prion diseases are believed to propagate by the mechanism involving self-perpetuating conformational conversion of the normal form of the prion prot ...
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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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Preponderance of sonic hedgehog ...
Medulloblastoma (MB) represents approximately 4% of adult brain tumours, and as such is a poorly studied disease. Although many adult MB are treated ...
1.17 MB
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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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Granular expression of prolyl-p ...
Alzheimer’s disease (AD) manifests with progressive memory loss and decline of spatial awareness and motor skills. Neurofibrillary tangles (NFTs) re ...
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A new phenotype of mitochondria ...
Axial myopathy is a rare neuromuscular disease that is characterized by paraspinal muscle atrophy and abnormal posture, most notably camptocormia (a ...
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Pathological heterogeneity in a ...
Mutations in the gene encoding the fused in sarcoma (FUS) protein are responsible for*3% of familial amyotrophic lateral sclerosis (ALS) and\1% of s ...
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Cellular and sub-cellular patho ...
The transmissible spongiform encephalopathies (TSEs) or prion diseases of animals are characterised by CNS spongiform change, gliosis and the accumu ...
1.51 MB
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Pediatric and adult sonic hedge ...
Recent integrative genomic approaches have defined molecular subgroups of medulloblastoma that are genetically and clinically distinct. Sonic hedgeh ...
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Mutation-specific IDH1 antibody ...
Isocitrate dehydrogenase 1 (IDH1) mutations are frequent in astrocytomas, oligoastrocytomas and oligodendrogliomas. We previously reported the gener ...
1.19 MB
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Analysis of BRAF V600E mutation ...
Missense mutations of the V600E type constitute the vast majority of tumor-associated somatic alterations in the v-RAF murine sarcoma viral oncogene ...
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Genome-wide comparison of pair ...
Array comparative genomic hybridization (aCGH) is a powerful tool for detecting DNA copy number alterations (CNA). Because diffuse malignant gliomas ...
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A distinct region of the MGMT C ...
O6-Methylguanine-DNA methyltransferase (MGMT) is a DNA repair protein that removes alkyl DNA adducts such as those induced by alkylating agents. Los ...
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The most common type of FTLD-FU ...
rontotemporal lobar degeneration (FTLD) is clinically, pathologically and genetically heterogeneous. Recent descriptions of a pathological sub-type ...
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The application of in vitro cel ...
A key event in the pathogenesis of prion diseases is the conversion of the normal cellular isoform of the prion protein into the disease-associated ...
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SOCS3 promoter methylation is m ...
The suppressor of cytokine signaling 3 (SOCS3) gene is one of eight structurally related genes of the SOCS family and has been suggested to function ...
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Defects in amphiphysin 2 (BIN1) ...
Myotubular myopathy and centronuclear myopathies (CNM) are congenital myopathies characterized by generalized muscle weakness and mislocalization of ...
2.18 MB
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PI3K/AKT pathway alterations ar ...
Pilocytic astrocytomas (PA) are well-differentiated gliomas having a favorable prognosis when compared with other diffuse or infiltrative astrocytom ...
1.18 MB
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Neuronal migration disorders in ...
Microcephalic osteodysplastic primordial dwarfism (MOPD) is a rare microlissencephaly syndrome, with at least two distinct phenotypic and genetic ty ...
1.22 MB
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Superficial neurofibromas in th ...
First described in the past decade, schwannomatosis is a syndrome distinct from neurofibromatosis 2 (NF2). It is characterized by the development of ...
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Spindle cell oncocytoma of the ...
Spindle cell oncocytoma (SCO) is a rare, nonadenomatous tumor originating from the anterior pituitary gland. Composed of fusiform, mitochondrion-ric ...
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Four-repeat tauopathy clinicall ...
A man aged 55 with negative family history presented with progressive decline in spatial orientation and visual functions for 2 years. He showed imp ...
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New neuropathological findings ...
Unverricht–Lundborg disease (EPM1A), also known as Baltic myoclonus, is the most common form of progressive myoclonic epilepsy. It is inherited as a ...
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Cell stress induces TDP-43 path ...
TDP-43 has been implicated in the pathogenesis of amyotrophic lateral sclerosis and other neurodegenerative diseases. Here we demonstrate, using ne ...
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Cholinergic imbalance in the mu ...
Hippocampal pathology was shown to be extensive in multiple sclerosis (MS) and is associated with memory impairment. In this post-mortem study, we ...
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