The neuropathology associated with repeat expansions in the C9ORF72 gene.
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Mechanisms of FUS mutations in familial amyotrophic lateral sclerosisThere has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALSMolecular Pathological Classification of Neurodegenerative Diseases: Turning towards Precision MedicineModeling ALS and FTD with iPSC-derived neuronsDrosophila as an In Vivo Model for Human Neurodegenerative DiseaseNeuropathology of Amyotrophic Lateral Sclerosis and Its Variants.Protein Homeostasis in Amyotrophic Lateral Sclerosis: Therapeutic Opportunities?C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.Drosha inclusions are new components of dipeptide-repeat protein aggregates in FTLD-TDP and ALS C9orf72 expansion casesA network of RNA and protein interactions in Fronto Temporal Dementia.Microstructural changes across different clinical milestones of disease in amyotrophic lateral sclerosis.C9orf72 promoter hypermethylation is neuroprotective: Neuroimaging and neuropathologic evidence.Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.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.An Assessment of Possible Neuropathology and Clinical Relationships in 46 Sporadic Amyotrophic Lateral Sclerosis Patient AutopsiesA data-driven approach links microglia to pathology and prognosis in amyotrophic lateral sclerosisNeurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits.Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAsDiscriminative and prognostic potential of cerebrospinal fluid phosphoTau/tau ratio and neurofilaments for frontotemporal dementia subtypes.Activation of HIPK2 Promotes ER Stress-Mediated Neurodegeneration in Amyotrophic Lateral Sclerosis.Ubiquitin pathways in neurodegenerative disease.Update on Hippocampal Sclerosis.Old versus New Mechanisms in the Pathogenesis of ALS.Genetics of Frontotemporal Lobar Degeneration: From the Bench to the Clinic.Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene.RNA Misprocessing in C9orf72-Linked Neurodegeneration.The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy.Neuron loss and degeneration in the progression of TDP-43 in frontotemporal lobar degeneration.Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers.Isoform-specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis.Autophagy Dysregulation in ALS: When Protein Aggregates Get Out of Hand.Unusually long duration and delayed penetrance in a family with FTD and mutation in MAPT (V337M).RETRACTED: A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD.Patterns of cerebral and cerebellar white matter degeneration in ALS.The Genetics of Monogenic Frontotemporal Dementia.Is amyotrophic lateral sclerosis/frontotemporal dementia an autophagy disease?Longitudinal structural changes in ALS: a three time-point imaging study of white and gray matter degeneration.Early Cognitive, Structural, and Microstructural Changes in Presymptomatic C9orf72 Carriers Younger Than 40 Years.The cerebellum in Alzheimer's disease: evaluating its role in cognitive decline.Current Advances and Limitations in Modeling ALS/FTD in a Dish Using Induced Pluripotent Stem Cells.
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The neuropathology associated with repeat expansions in the C9ORF72 gene.
description
article científic
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article scientifique
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articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
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artigo científico
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artikel ilmiah
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artikull shkencor
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artículo científico
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name
The neuropathology associated with repeat expansions in the C9ORF72 gene.
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type
label
The neuropathology associated with repeat expansions in the C9ORF72 gene.
@en
prefLabel
The neuropathology associated with repeat expansions in the C9ORF72 gene.
@en
P2860
P1476
The neuropathology associated with repeat expansions in the C9ORF72 gene.
@en
P2093
Ian R A Mackenzie
Petra Frick
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P2888
P304
P356
10.1007/S00401-013-1232-4
P577
2013-12-20T00:00:00Z
P6179
1050918602