Results 11 to 20 of about 14,543 (225)
Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers [PDF]
Acta Neuropathologica Communications, 2018 Hexanucleotide repeat expansion in C9orf72 is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis, but the pathogenic mechanism of this mutation remains unresolved.
Petra Frick +12 more
doaj +10 more sources
Roadmap for C9ORF72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis: Report on the C9ORF72 FTD/ALS Summit [PDF]
Neurology and Therapy, 2023 A summit held March 2023 in Scottsdale, Arizona (USA) focused on the intronic hexanucleotide expansion in the C9ORF72 gene and its relevance in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS; C9ORF72-FTD/ALS).
Rita Sattler +20 more
doaj +6 more sources
C9orf72 and intracerebral hemorrhage [PDF]
Neurobiology of Aging, 2019 The chromosome 9 open reading frame 72 (C9orf72) GGGGCC repeat expansion has been associated with several diseases, including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. It has also been associated with increased white matter changes in frontotemporal dementia and risk of cognitive impairment in ALS.
Isabel C. Hostettler +15 more
openaire +8 more sources
A comparative bioinformatic analysis of C9orf72 [PDF]
PeerJ, 2018 C9orf72 is associated with frontotemporal dementia (FTD) and Amyotrophic Lateral Sclerosis (ALS), both of which are devastating neurodegenerative diseases. Findings suggest that an expanded hexanucleotide repeat in the non-coding region of the C9orf72 gene is the most common cause of familial FTD and ALS. Despite considerable efforts being made towards
Iyer, Shalini +2 more
core +6 more sources
C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy [PDF]
Acta Neuropathologica, 2019 Microsatellite repeat expansion disease loci can exhibit pleiotropic clinical and biological effects depending on repeat length. Large expansions in C9orf72 (100s-1000s of units) are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD).
Christopher P. Cali +25 more
openaire +7 more sources
Moderate intrinsic phenotypic alterations in C9orf72 ALS/FTD iPSC-microglia despite the presence of C9orf72 pathological features [PDF]
Frontiers in Cellular Neuroscience, 2023 While motor and cortical neurons are affected in C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD), it remains largely unknown if and how non-neuronal cells induce or exacerbate neuronal damage. We differentiated C9orf72 ALS/FTD
Ileana Lorenzini +43 more
doaj +3 more sources
RNA Misprocessing in C9orf72-Linked Neurodegeneration [PDF]
Frontiers in Cellular Neuroscience, 2017 A large GGGGCC hexanucleotide repeat expansion in the first intron or promoter region of the C9orf72 gene is the most common genetic cause of familial and sporadic Amyotrophic lateral sclerosis (ALS), a devastating degenerative disease of motor neurons, and of Frontotemporal Dementia (FTD), the second most common form of presenile dementia after ...
Barker, Holly V. +4 more
openaire +6 more sources
The Enigmatic Role of C9ORF72 in Autophagy [PDF]
Frontiers in Neuroscience, 2017 Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by the loss of motor neurons resulting in a progressive and irreversible muscular paralysis. Advances in large-scale genetics and genomics have revealed intronic hexanucleotide repeat expansions in the gene encoding C9ORF72 as a main genetic cause of ALS and ...
Melissa Nassif +5 more
openaire +5 more sources
FDG-PET in presymptomatic C9orf72 mutation carriers [PDF]
NeuroImage: Clinical, 2021 Objective: Our aim is to investigate patterns of brain glucose metabolism using fluorodeoxyglucose positron emission tomography (FDG-PET) in presymptomatic carriers of the C9orf72 repeat expansion to better understand the early preclinical stages of ...
Karteek Popuri +11 more
doaj +2 more sources
Unaffected mosaic C9orf72 case [PDF]
Neurology, 2018 Suggested C9orf72 disease mechanisms for amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration include C9orf72 haploinsufficiency, G4C2/C4G2 RNA foci, and dipeptide repeat (DPR) proteins translated from the G4C2 expansion; however, the role of small expansions (e.g., 30-90 repeats) is unknown and was investigated here.We conducted a
McGoldrick, Philip +15 more
core +5 more sources