Results 11 to 20 of about 21,720 (221)

Neuronal Transcriptome from C9orf72 Repeat Expanded Human Tissue is Associated with Loss of C9orf72 Function

Free Neuropathology, 2020
A hexanucleotide G4C2 repeat expansion in C9orf72 is the most common genetic cause of familial and sporadic cases of amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD). The mutation is associated with a reduction of C9orf72 protein
Elaine Y. Liu, Jenny Russ, Edward B. Lee
doaj   +3 more sources

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, Chantal Sellier, Ian R. A. Mackenzie, Chieh-Yu Cheng, Julie Tahraoui-Bories, Cecile Martinat, R. Jeroen Pasterkamp, Johannes Prudlo, Dieter Edbauer, Mustapha Oulad-Abdelghani, Regina Feederle, Nicolas Charlet-Berguerand, Manuela Neumann   +12 more
doaj   +7 more sources

FDG-PET in presymptomatic C9orf72 mutation carriers

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, Mirza Faisal Beg, Hyunwoo Lee, Rakesh Balachandar, Lei Wang, Vesna Sossi, Claudia Jacova, Matt Baker, Elham Shahinfard, Rosa Rademakers, Ian R.A. Mackenzie, Ging-Yuek R. Hsiung   +11 more
doaj   +3 more sources

Clinical Characteristics of C9ORF72-Linked Frontotemporal Lobar Degeneration [PDF]

Dementia and Geriatric Cognitive Disorders Extra, 2013
Background: The most common genetic cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) has been linked to a hexanucleotide repeat expansion in the C9ORF72 gene.
Anna-Lotta Kaivorinne, Michaela K. Bode, Liisa Paavola, Hannu Tuominen, Mika Kallio, Alan E. Renton, Bryan J. Traynor, Virpi Moilanen, Anne M. Remes   +8 more
doaj   +3 more sources

Neuroimaging features of C9ORF72 expansion [PDF]

Alzheimer's Research & Therapy, 2012
Hexanucleotide expansion intronic to chromosome 9 open reading frame 72 (C9ORF72) has recently been identified as the most common genetic cause of both familial and sporadic amyotrophic lateral sclerosis and of frontotemporal dementia with or without concomitant motor neuron disease.
Yokoyama, Jennifer S, Rosen, Howard J
openaire   +4 more sources

Frontotemporal dementia: Clinical aspects, genetics, and neuropathology of a family with a C9ORF72 expansion in Argentina. [PDF]

Brain Pathol
Immunohistochemistry for TDP‐43: (A)—Dentate gyrus; (B)—Temporal lobe. Abstract Frontotemporal dementia (FTD) is the second most common cause of early‐onset dementia, typically manifesting before the age of 65, with a mean onset at 58 years. FTD may encompass a spectrum of neurodegenerative disorders resulting from frontotemporal lobar degeneration ...
Román KD, Ardohain CA, Surace EI, Mezmezian MB, Levy A, Baez Lovera A, Turizo C, Sorbara MG, Esnaola Y Rojas MM, Graviotto GH, Sevlever G, Allegri RF, Serrano CM, Magrath Guimet N.   +13 more
europepmc   +2 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, Manuel Bernal-Quiros, Andrew Wong, Nikhil Sharma, Duncan Wilson, David J. Seiffge, Clare Shakeshaft, Hans R. Jäger, Hannah Cohen, Tarek Yousry, Rustam Al-Shahi Salman, Gregory Y.H. Lip, Martin M. Brown, Keith W. Muir, David J. Werring, Henry Houlden   +15 more
openaire   +4 more sources

Treatment implications of C9ORF72 [PDF]

Alzheimer's Research & Therapy, 2012
Frontotemporal dementia (FTD) is a common dementia syndrome in patients under the age of 65 years with many features overlapping with amyotrophic lateral sclerosis (ALS). The link between FTD and ALS has been strengthened by the discovery that a hexanucleotide repeat expansion in a non-coding region of the C9ORF72 gene causes both familial and sporadic
Sha, Sharon J, Boxer, Adam
openaire   +2 more sources

RANTing about C9orf72 [PDF]

Neuron, 2013
A noncoding repeat expansion in the C9orf72 gene is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis. In this issue of Neuron, Ash et al. (2013) show that despite being noncoding the repeats are translated, leading to widespread neuronal aggregates of the translated proteins.
Lashley, T, Hardy, J, Isaacs, AM
openaire   +2 more sources

Comparative interactomics analysis of different ALS-associated proteins identifies converging molecular pathways [PDF]

, 2016
Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease with no effective treatment available. An increasing number of genetic causes of ALS are being identified, but how these genetic defects lead to motor neuron degeneration and ...
Anink, Jasper J., Aronica, Eleonora, Blokhuis, Anna M., Bozzoni, Irene, Demmers, Jeroen A. A., Den Hertog, Jeroen, DINI MODIGLIANI, Stefano, Fumoto, Katsumi, Groen, Ewout J. N., Koppers, Max, Pasterkamp, R. Jeroen, Snelting, Anne, Sodaar, Peter, van Den Berg, Leonard H., van Den Heuvel, Dianne M. A., van Diggelen, Femke, Veldink, Jan H., Verheijen, Bert M.   +17 more
core   +6 more sources