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Proteostasis deregulation as a driver of C9ORF72 pathogenesis
Journal of Neurochemistry, 2021AbstractAmyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two related neurodegenerative disorders that display overlapping features. The hexanucleotide repeat expansion GGGGCC (G4C2) in C9ORF72 gene has been causally linked to both ALS and FTD emergence, thus opening a novel potential therapeutic target for disease intervention.
Paulina Torres +3 more
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C9ORF72 Mutations in Neurodegenerative Diseases
Molecular Neurobiology, 2013Recent works have demonstrated an expansion of the GGGGCC hexanucleotide repeat in the first intron of chromosome 9 open reading frame 72 (C9ORF72), encoding an unknown C9ORF72 protein, which was responsible for an unprecedented large proportion of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) cases of European ancestry. C9ORF72
Ying, Liu +4 more
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Trends in Immunology, 2020
C9ORF72 mutations are the most common genetic cause of ALS and FTD, leading to neurodegeneration via complex mechanisms. Mutations also lead to loss of C9ORF72 function and inflammatory diseases in patients and knockout mice. Burberry et al. now show that C9orf72-associated inflammation and premature death in mice are directly modified by the gut ...
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C9ORF72 mutations are the most common genetic cause of ALS and FTD, leading to neurodegeneration via complex mechanisms. Mutations also lead to loss of C9ORF72 function and inflammatory diseases in patients and knockout mice. Burberry et al. now show that C9orf72-associated inflammation and premature death in mice are directly modified by the gut ...
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Pathophysiological insights into ALS with C9ORF72 expansions
Journal of Neurology, Neurosurgery & Psychiatry, 2013Expansions of a hexanucleotide repeat in C9ORF72 are a common cause of familial amyotrophic lateral sclerosis (ALS) and a small proportion of sporadic ALS cases. We sought to examine clinical and neurophysiological features of familial and sporadic ALS with C9ORF72 expansions.C9ORF72 was screened for expansions in familial and sporadic ALS.
Kelly L, Williams +6 more
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The frequency of the C9orf72 expansion in a Brazilian population
Neurobiology of Aging, 2018G4C2 hexanucleotide repeat expansions in the C9orf72 gene seem to be the cause of numerous cases of amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD). In this study, we investigated the presence of the G4C2 repeat expansion in 463 Brazilian probands, of whom 404 had ALS/motor neuron disease and 67 FTD, and in 63 healthy controls ...
Vívian Pedigone Cintra +15 more
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C9orf72 expansion presenting as an eating disorder
Journal of Clinical Neuroscience, 2016This report describes a 64-year-old woman with a strong family history of motor neuron disease, whose diagnosis of behavioural variant frontotemporal dementia was delayed due to her initial presentation with atypical manifestations, including restriction of oral intake resulting in low weight, disordered eating and anxiety.
Peter Sanders, Isobel Ewing, Kate Ahmad
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Photosensitivity in a patient with C9orf72 repeat expansion
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2016The phenotype of C9ORF72 repeat expansions is rapidly expanding. Originally found to be the major genetic cause of familial frontotemporal dementia with amyotrophic lateral sclerosis, several other clinical characteristics have been described more recently. Here, we report on a family diagnosed with 'degenerative schizophrenia' and harbouring a C9ORF72
Paula, Janssen, Mark, Houben, Erik, Hoff
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C9orf72; abnormal RNA expression is the key
Experimental Neurology, 2014An expanded GGGGCC hexanucleotide repeat in the first intron located between the 1st and 2nd non-coding exons of C9orf72 is the most frequent cause of frontotemporal dementia (FTD) and amyothropic lateral sclerosis (ALS). C9orf72 is a protein with largely unknown function and insight into the disease mechanism caused by the repeat expansion is still in
Heutink, P., Jansen, I.E., Lynes, E.M.
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The C9ORF72 syndrome: implications for clinical practice
Journal of Neurology, 2012Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are part of a clinical spectrum associated with specific pathological findings and kindreds which variably express ALS, FTD, or overlapping features of both these disorders. Until recently, only two groups of mutations had been described associated with these kindreds; firstly ...
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Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease
Neurobiology of Aging, 2012Frontotemporal lobar degeneration (FTLD) is a highly familial neurodegenerative disease. It has recently been shown that the most common genetic cause of FTLD and amyotrophic lateral sclerosis (ALS) is a hexanucleotide repeat expansion in C9ORF72. To investigate whether this expansion was specific to the FTLD/ALS disease spectrum, we genotyped the ...
Rollinson, Sara +13 more
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