Results 191 to 200 of about 21,720 (221)

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport [PDF]

Nature, 2015
The hexanucleotide repeat expansion (HRE) GGGGCC (G4C2) in C9orf72 is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Recent studies support an HRE RNA gain-of-function mechanism of neurotoxicity, and we previously identified protein interactors for the G4C2 RNA including RanGAP1.
Ke Zhang, Christopher J Donnelly, Aaron Haeusler   +2 more
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C9ORF72 Mutations in Neurodegenerative Diseases

Molecular Neurobiology, 2013
Recent 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, Jin-Tai, Yu, Yu, Zong, Jing, Zhou, Lan, Tan   +4 more
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Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathology

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2014
There was no family history of neuromuscular disease. Examination revealed weakness particularly in the lower limbs, hyperrefl exia, wasting and fas-ciculation. There was no sensory or cognitive impair-ment. A diagnosis of ALS was made following full neurological investigation.
Beer, Alexander M, Cooper-Knock, Johnathan, Higginbottom, Adrian, Highley, J Robin, Wharton, Stephen B, Ince, Paul G, Milano, Antonio, Jones, Ashley A, Al-Chalabi, Ammar, Kirby, Janine, Shaw, Pamela J   +10 more
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Psychopathology in premanifest C9orf72 repeat expansion carriers

Journal of Neurology, Neurosurgery & Psychiatry, 2021
The clinical phenotype of behavioural variant frontotemporal dementia (bvFTD) is characterised by neuropsychiatric symptoms, including loss of empathy, compulsive behaviour, behavioural disinhibition and apathy. An expansion of a hexanucleotide (GGGGCC) repeat in the chromosome 9 open reading frame 72 gene (c9orf72RE) is the most common genetic cause ...
Joke De Vocht, Daphne Stam, Marie Nicolini, Nikita Lamaire, Maarten Laroy, Thomas Vande Casteele, Laura Van De Vliet, Kristof Vansteelandt, Ann D'Hondt, Louise Emsell, Ronny Bruffaerts, Mathieu Vandenbulcke, Philip van Damme, Jan Van den Stock   +13 more
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A Gut Feeling about C9ORF72

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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Pathophysiological insights into ALS with C9ORF72 expansions

Journal of Neurology, Neurosurgery & Psychiatry, 2013
Expansions 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, Jennifer A, Fifita, Steve, Vucic, Jennifer C, Durnall, Matthew C, Kiernan, Ian P, Blair, Garth A, Nicholson   +6 more
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Prognostic factors in C9orf72 amyotrophic lateral sclerosis

Journal of Neurology, Neurosurgery & Psychiatry, 2016
The discovery of the C9orf72 hexanucleotide repeat expansion heralded significant advancement in the understanding of amyotrophic lateral sclerosis (ALS).1 ,2 Critically, the C9orf72 mutation represents the most common genetic cause of ALS (up to 50% of familial and 20% of sporadic ALS), responsible for the majority of motor and cognitive ...
José Manuel, Matamala, Thanuja, Dharmadasa, Matthew C, Kiernan   +2 more
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C9orf72 expansion presenting as an eating disorder

Journal of Clinical Neuroscience, 2016
This 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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The C9ORF72 syndrome: implications for clinical practice

Journal of Neurology, 2012
Frontotemporal 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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