Keywords: Amyotrophic lateral sclerosis; C9ORF72; China; Epidemiology; Genetics; SOD1;
مقالات ISI (ترجمه نشده)
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Keywords: Frontotemporal dementia; Amyotrophic lateral sclerosis; Motor neuron disease; C9ORF72; TDP-43;
Keywords: ABIN; A20 binding and inhibitor of NF-κB; AD; Alzheimer's disease; ALS; amyotrophic lateral sclerosis; Atg; autophagy-related gene; C9ORF72; chromosome 9 open reading frame 72; CC; coiled-coil; cIAP; cellular inhibitor of apoptosis protein; CYLD; cylin
Keywords: Frontotemporal dementia; C9ORF72; psychiatric disease;
Keywords: ALS genetic analysis; SOD1; C9ORF72; FUS; TARDBP; Slovenian population;
Keywords: Amyotrophic lateral sclerosis; Neuropathology; TDP-43; Motor neuron degeneration; C9orf72;
Keywords: ASK1; apoptosis signal-regulating kinase; ALS; amyotrophic lateral sclerosis; Apaf-1; apoptotic protease-activating factor; ATF6; activating transcription factor 6; Atg12; autophagy-related gene 12; C9ORF72; chromosome 9 open reading frame 72; CHIP; carbo
Keywords: Astroglia; Microglia; Oligodendroglia; Inflammation; Excitotoxicity; RNA; Transporters; EAAT2; C9ORF72; MCT1;
Keywords: ALS; SOD1; TARDBP; FUS; OPTN; VCP; UBQLN2; SQSTM1; PFN1; HNRNPA1; ATXN2; C9ORF72;
Keywords: Cerebellum; Genetic frontotemporal dementia; C9orf72
No C9orf72 repeat expansion in patients with primary progressive multiple sclerosis
Keywords: Primary progressive multiple sclerosis; C9orf72; Amyotrophic lateral sclerosis; Frontotemporal dementia; Intermediate alleles;
The frequency of the C9orf72 expansion in a Brazilian population
Keywords: C9orf72; G4C2 repeat expansion; Amyotrophic lateral sclerosis; Frontotemporal dementia; Neurodegenerative diseases; Frequency;
ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis
Keywords: Amyotrophic lateral sclerosis; Spinocerebellar ataxia; Frontotemporal dementia; ATXN1; C9orf72;
Prevalence of immunological diseases in a Finnish frontotemporal lobar degeneration cohort with the C9orf72 repeat expansion carriers and non-carriers
Keywords: Frontotemporal lobar degeneration; Frontotemporal dementia; Immunological disease; C9orf72; Comorbidity; Immunology;
Single-subject classification of presymptomatic frontotemporal dementia mutation carriers using multimodal MRI
Keywords: Frontotemporal dementia; MAPT protein, human; GRN protein, human; C9orf72, human; Diffusion Tensor Imaging; Resting-state functional MRI; Multimodal MRI; classification; machine learning; 3DT1w; 3-dimensional T1-weighted; AUC; Area under the receiver oper
CSF pro-orexin and amyloid-β38 expression in Alzheimer's disease and frontotemporal dementia
Keywords: Alzheimer's disease; Frontotemporal dementia; Orexin; Progranulin; C9orf72; Amyloid β-38;
Stress-induced acidification may contribute to formation of unusual structures in C9orf72-repeats
Keywords: c9orf72; G-Quadruplex; I-motif; Circular dichroism spectroscopy; DNA structure; Protein-DNA interactions;
Synaptic dysfunction and altered excitability in C9ORF72 ALS/FTD
Keywords: ALS; FTD; RNA metabolism; C9orf72; Excitotoxicity; Synaptic dysfunction;
High frequency of C9orf72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis patients from two founder populations sharing the same risk haplotype
Keywords: Amyotrophic lateral sclerosis (ALS); C9orf72; Cohort studies;
Optineurin Insufficiency Disbalances Proinflammatory and Anti-inflammatory Factors by Reducing Microglial IFN-β Responses
Keywords: ALS; amyotrophic lateral sclerosis; BMDM; bone marrow-derived macrophages; C9orf72; chromosome 9 open-reading frame 72; CNS; central nervous system; CXCL; CXC chemokine ligand; DAMPs; damage-associated molecular patterns; DMEM; Dulbecco's Modified Eagle
PURA, the gene encoding Pur-alpha, member of an ancient nucleic acid-binding protein family with mammalian neurological functions
Keywords: Pura (Pur-alpha); Purb; Pur-beta; Purg; Pur-gamma-A and Pur-gamma-B; AIDS; Myelodysplastic syndrome; Acute myelogenous leukemia; AML; Progressive multifocal leukoencephalopathy; PML; Polyomavirus JC; JCV; Fragile X syndrome; FXS; FMR1; Amyotrophic lateral
Drosophila models of amyotrophic lateral sclerosis with defects in RNA metabolism
Keywords: Drosophila; Amyotrophic lateral sclerosis; C9orf72; RNA metabolism; Stress granule; Nucleocytoplasmic transport;
C9orf72 is essential for neurodevelopment and motility mediated by Cyclin G1
Keywords: ALS; amyotrophic lateral sclerosis; C9-ALS-FTD; patients with C9orf72-mediated ALS-FTD; DENN; differentially expressed in normal and neoplastic cell; EGFP; enhanced green fluorescent protein; FTD; frontotemporal dementia; MO; morpholino; qPCR; quantit
Translation of dipeptide repeat proteins from the C9ORF72 expanded repeat is associated with cellular stress
Keywords: C9ORF72; Dipeptide protein repeats (DPRs); Hexanucleotide repeat expansions (HREs); Repeat associated non-AUG (RAN) translation; Unconventional translation; Internal ribosome entry site (IRES); eIF2A; Integrated stress response (ISR);
Oligodendrogliopathy in neurodegenerative diseases with abnormal protein aggregates: The forgotten partner
Keywords: 5-HT; 5-hydroxytryptamine; Aβ; β-amyloid; ABCA8; ATP binding cassette subfamily A member 8; AD; Alzheimer's disease; ADP; adenosine diphosphate; AGD; argyrophilic grain disease; ALS; amyotrophic lateral sclerosis; AMBRA-1; autophagy and beclin 1 regul
C9ORF72 and UBQLN2 mutations are causes of amyotrophic lateral sclerosis in New Zealand: a genetic and pathologic study using banked human brain tissue
Keywords: Motor neurone disease; Amyotrophic lateral sclerosis; TARDBP; Brain bank; C9ORF72; Ubiquilin;
Mutations in C19orf12 and intronic repeat expansions in C9orf72 not observed in Iranian Parkinson's disease patients
Keywords: Parkinson's disease; C9orf72; Hexanucleotide repeat expansions; C19orf12;
Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies
Keywords: C9orf72; Dementia with Lewy bodies (DLB); Genetic screen;
TDP-43 in the spectrum of MND-FTLD pathologies
Keywords: AAV; adeno-associated virus; ALS; amyotrophic lateral sclerosis; BAC; bacterial artificial chromosome; bvFTD; behavioral variant FTD; C9ORF72; chromosome 9 open reading frame 72; CaMKII; Calcium/calmodulin-dependent kinase II; CFTR; cystic fibrosis transm
C9ORF72 and parkinsonism: Weak link, innocent bystander, or central player in neurodegeneration?
Keywords: Amyotrophic lateral sclerosis; Parkinsonism; C9ORF72; Levodopa; Parkinson's disease;
Analysis of C9orf72 repeat expansion in amyotrophic lateral sclerosis patients from North India
Keywords: C9orf72; Hexanucleotide repeat expansion; Amyotrophic lateral sclerosis; India;
Genetic analysis of the SOD1 and C9ORF72 genes in Hungarian patients with amyotrophic lateral sclerosis
Keywords: ALS; SOD1; C9ORF72; Mutation screening; Repeat expansion;
C9orf72 hexanucleotide repeat expansions and Ataxin 2 intermediate length repeat expansions in Indian patients with amyotrophic lateral sclerosis
Keywords: C9orf72; Ataxin 2; GGGGCC repeat expansions; CAG repeat expansions; ALS; Motor neuron disease;
Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene
Keywords: C9orf72; ALS; FTD; Repeat expansion disease; RNA foci; Dipeptide repeat protein;
Structural and functional brain signatures of C9orf72 in motor neuron disease
Keywords: C9orf72; Amyotrophic lateral sclerosis; Cortical thickness; White matter damage; Functional connectivity; Cognitive deficits;
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion
Keywords: Amyotrophic lateral sclerosis; Phenotype; ATXN2; C9ORF72;
Analyses MAPT, GRN, and C9orf72 mutations in Chinese patients with frontotemporal dementia
Keywords: Frontotemporal dementia; MAPT; GRN; C9orf72;
Identification of a novel loss-of-function C9orf72 splice site mutation in a patient with amyotrophic lateral sclerosis
Keywords: Amyotrophic lateral sclerosis; C9orf72; GGGGCC hexanucleotide repeat expansion; Splice site mutation; Loss-of-function;
Methylation of C9orf72 expansion reduces RNA foci formation and dipeptide-repeat proteins expression in cells
Keywords: FTD; frontotemporal dementia; ALS; amyotrophic lateral sclerosis; C9orf72; chromosome 9 open reading frame 72; c9FTD/ALS; FTD/ALS caused by expansion in C9orf72 gene; RAN translation; repeat-associated non-ATG translation; DPR; dipeptide-repeat protein; p
Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers
Keywords: Amyotrophic lateral sclerosis; C9orf72; Genetic modifiers; NIPA1; Repeat expansions;
ReviewC9orf72 isoforms in Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration
Keywords: HRE; hexanucleotide repeat expansions; DPR; dipeptide repeat protein; RBP; RNA Binding Protein; C9orf72; Hexanucleotide repeat expansion; C9-transcripts; C9-isoforms; ALS/FTLD;
Improved PCR based methods for detecting C9orf72 hexanucleotide repeat expansions
Keywords: C9orf72; Repeat-primed PCR; Amyotrophic lateral sclerosis; Genetic testing;
C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells
Keywords: C9orf72; Amyotrophic lateral sclerosis; Repeat expansion; Cytosine hydroxymethylation;
Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide (G4C2) repeat expansion in C9orf72 gene
Keywords: Frontotemporal dementia; Paget disease of bone; C9orf72; SQSTM1;
Structural insight into C9orf72 hexanucleotide repeat expansions: Towards new therapeutic targets in FTD-ALS
Keywords: C9orf72; G-quadruplexes; Amyotrophic lateral sclerosis; Frontotemporal dementia; C9-FTD/ALS; Therapy
ReviewThere has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS
Keywords: ALS, FTD; C9orf72; RNA; Dipeptide repeat protein;
ReviewRAN translation-What makes it run?
Keywords: C9orf72; Fragile X-associated tremor ataxia syndrome; Amyotrophic lateral sclerosis; Frontotemporal dementia; Huntington disease; Translation initiation;
ReviewProtein folding alterations in amyotrophic lateral sclerosis
Keywords: Amyotrophic lateral sclerosis; Protein misfolding; Protein disulphide isomerase (PDI); Superoxide dismutase 1 (SOD1); Disulphide bonds; ER stress; TDP-43; FUS; C9ORF72;
Mutant SOD1 mediated pathogenesis of Amyotrophic Lateral Sclerosis
Keywords: AAV; Adeno-associated viruses; ATP; Adenosine Triphosphate; ALS-FTD; ALS combined with frontotemporal dementia; ALS; Amyotrophic lateral sclerosis; ALSoD; Amyotrophic lateral sclerosis online database; C9orf72; Chromosome 9 open reading frame 72; ERGIC; E
Macrophage-mediated inflammation and glial response in the skeletal muscle of a rat model of familial amyotrophic lateral sclerosis (ALS)
Keywords: α-BTX; alpha-bungarotoxin; AChR; acetylcholine receptor; ALS; amyotrophic lateral sclerosis; ANOVA; analysis of variance; BBB; Basso-Beattie-Bresnahan hindlimb locomotor rating; BVC; bupivacaine hydrochloride; CD11b; cluster of differentiation 11b; C