Motor neuron disease clinically limited to the lower mo ...
رایگان
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 ...
462.29 KB
رایگان
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 ...
727.91 KB
رایگان
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 ...
582.61 KB
رایگان
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 ...
458.14 KB
رایگان
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
رایگان
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
رایگان
Optineurin inclusions occur in ...
Optineurin (OPTN) is a multifunctional protein involved in vesicular trafficking, signal transduction and gene expression. OPTN mutations were descr ...
479.63 KB
رایگان
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 ...
839.93 KB
رایگان
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 ...
738.08 KB
رایگان
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 ...
725.88 KB
رایگان
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 ...
دانلود 1
1.51 MB
رایگان
Pediatric and adult sonic hedge ...
Recent integrative genomic approaches have defined molecular subgroups of medulloblastoma that are genetically and clinically distinct. Sonic hedgeh ...
811.59 KB
رایگان
Mutation-specific IDH1 antibody ...
Isocitrate dehydrogenase 1 (IDH1) mutations are frequent in astrocytomas, oligoastrocytomas and oligodendrogliomas. We previously reported the gener ...
دانلود 1
1.19 MB
رایگان
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 ...
360.69 KB
رایگان
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 ...
1.01 MB
رایگان
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 ...
686.11 KB
رایگان
The most common type of FTLD-FU ...
rontotemporal lobar degeneration (FTLD) is clinically, pathologically and genetically heterogeneous. Recent descriptions of a pathological sub-type ...
481.03 KB
رایگان
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 ...
276.03 KB
رایگان
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 ...
692.36 KB
رایگان
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
رایگان
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
رایگان
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
رایگان
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 ...
748.98 KB
رایگان
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 ...
593.01 KB
رایگان
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 ...
640.98 KB
رایگان
