p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS
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Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansionDysregulation of the autophagy-endolysosomal system in amyotrophic lateral sclerosis and related motor neuron diseasesThe genetics and neuropathology of frontotemporal lobar degenerationNeuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadicsIncreased functional connectivity common to symptomatic amyotrophic lateral sclerosis and those at genetic riskFrom animal models to human disease: a genetic approach for personalized medicine in ALSGolgi Fragmentation in ALS Motor Neurons. New Mechanisms Targeting Microtubules, Tethers, and Transport VesiclesPhenotypic Heterogeneity of Monogenic Frontotemporal DementiaCognitive and behavioral features of c9FTD/ALSPathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disordersWhat does imaging reveal about the pathology of amyotrophic lateral sclerosis?TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets.Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB SignalingIntrinsic disorder in proteins involved in amyotrophic lateral sclerosis.The involvement of the cerebellum in amyotrophic lateral sclerosis.Multiple kernel learning captures a systems-level functional connectivity biomarker signature in amyotrophic lateral sclerosis.Protein Homeostasis in Amyotrophic Lateral Sclerosis: Therapeutic Opportunities?The Role of the Heat Shock Protein B8 (HSPB8) in Motoneuron Diseases.Cell-type specific differences in promoter activity of the ALS-linked C9orf72 mouse ortholog.Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degenerationAltered body schema processing in frontotemporal dementia with C9ORF72 mutations.Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress.Microglial activation correlates with disease progression and upper motor neuron clinical symptoms in amyotrophic lateral sclerosisThe C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegenerationThe emerging roles of microRNAs in the pathogenesis of frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) spectrum disordersThe epidemiology of ALS: a conspiracy of genes, environment and time.Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia.Mitochondrial abnormalities and low grade inflammation are present in the skeletal muscle of a minority of patients with amyotrophic lateral sclerosis; an observational myopathology study.Profiling of ubiquitination pathway genes in peripheral cells from patients with frontotemporal dementia due to C9ORF72 and GRN mutations.Clinicopathologic report of ocular involvement in ALS patients with C9orf72 mutationHighly immunoreactive IgG antibodies directed against a set of twenty human proteins in the sera of patients with amyotrophic lateral sclerosis identified by protein array.Drosha inclusions are new components of dipeptide-repeat protein aggregates in FTLD-TDP and ALS C9orf72 expansion casesMicrostructural changes across different clinical milestones of disease in amyotrophic lateral sclerosis.Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine.The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration.Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9pTDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation
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p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS
description
im November 2011 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 19 November 2011
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в листопаді 2011
@uk
name
p62 positive, TDP-43 negative, ...... 9orf72-linked FTLD and MND/ALS
@en
p62 positive, TDP-43 negative, ...... 9orf72-linked FTLD and MND/ALS
@nl
type
label
p62 positive, TDP-43 negative, ...... 9orf72-linked FTLD and MND/ALS
@en
p62 positive, TDP-43 negative, ...... 9orf72-linked FTLD and MND/ALS
@nl
prefLabel
p62 positive, TDP-43 negative, ...... 9orf72-linked FTLD and MND/ALS
@en
p62 positive, TDP-43 negative, ...... 9orf72-linked FTLD and MND/ALS
@nl
P2093
P2860
P50
P1476
p62 positive, TDP-43 negative, ...... 9orf72-linked FTLD and MND/ALS
@en
P2093
Andrew King
Safa Al-Sarraj
Satomi Maekawa
Tibor Hortobágyi
P2860
P2888
P304
P356
10.1007/S00401-011-0911-2
P577
2011-11-19T00:00:00Z