Results 121 to 130 of about 21,720 (221)

Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers

Molecular Neurodegeneration, 2020
Background A repeat expansion in the C9orf72-SMCR8 complex subunit (C9orf72) is the most common genetic cause of two debilitating neurodegenerative diseases: amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Jazmyne L. Jackson, NiCole A. Finch, Matthew C. Baker, Jennifer M. Kachergus, Mariely DeJesus-Hernandez, Kimberly Pereira, Elizabeth Christopher, Mercedes Prudencio, Michael G. Heckman, E. Aubrey Thompson, Dennis W. Dickson, Jaimin Shah, Björn Oskarsson, Leonard Petrucelli, Rosa Rademakers, Marka van Blitterswijk   +15 more
doaj   +1 more source

The C9orf72 expansion is associated with accelerated respiratory function decline in a large Amyotrophic Lateral Sclerosis cohort [version 1; peer review: 2 approved]

HRB Open Research, 2019
Introduction: The C9orf72 hexanucleotide repeat expansion is causal in amyotrophic lateral sclerosis (ALS) and has a negative effect on prognosis. The C9orf72 repeat expansion has been associated with an accelerated deterioration of respiratory function ...
James Rooney, Deirdre Murray, Anna Campion, Hannah Moloney, Rachel Tattersall, Mark Doherty, Michaela Hammond, Mark Heverin, Russell McLaughlin, Orla Hardiman   +9 more
doaj   +1 more source

The neural correlates and clinical characteristics of psychosis in the frontotemporal dementia continuum and the C9orf72 expansion [PDF]

, 2016
Objective: This present study aims to address the gap in the literature regarding the severity and underlying neural correlates of psychotic symptoms in frontotemporal dementia with and without the C9orf72 gene expansion. Methods: Fifty-six patients with
Aguayo, Amann, American Psychiatric Association, Andersson, Andreasen, Ashburner, Bede, Bede, Boeve, Bora, Brooks, Byne, Cummings, DeJesus-Hernandez, Devenney, Dobson-Stone, Downey, Fletcher, Fusar-Poli, Glahn, Hailstone, Hall, Kiran, Landqvist Waldö, Lee, Lieberman, Lillo, Lillo, Mahoney, Mendez, Mioshi, Mioshi, Nichols, Nodera, Rascovsky, Renton, Rueckert, Schofield, Seeley, Shinagawa, Snowden, Stanford, Turner, Whitwell, Zhang, Zhou   +45 more
core   +2 more sources

Resting‐state fMRI functional connectome of C9orf72 mutation status

Annals of Clinical and Translational Neurology
Objective The resting‐state functional connectome has not been extensively investigated in amyotrophic lateral sclerosis (ALS) spectrum disease, in particular in relationship with patients' genetic status.
Mario Stanziano, Davide Fedeli, Umberto Manera, Stefania Ferraro, Jean P. Medina Carrion, Sara Palermo, Paola Sciortino, Maurizio Cogoni, Federica Agosta, Silvia Basaia, Massimo Filippi, Marina Grisoli, Maria C. Valentini, Filippo De Mattei, Antonio Canosa, Andrea Calvo, Maria G. Bruzzone, Adriano Chiò, Anna Nigri, Cristina Moglia   +19 more
doaj   +1 more source

C9 ORF 72 expansion in a family with bipolar disorder [PDF]

, 2013
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/98405/1/bdi12063 ...
Albin, Roger L., Grant, Adrienne E., He, Fang, Jones, Julie M., Kamali, Masoud, Langenecker, Scott A., Lenk, Guy M., Lieberman, Andrew P., McInnis, Melvin G., Meisler, Miriam H., Todd, Peter K.   +10 more
core   +1 more source

C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases [PDF]

, 2015
Neurodegenerative diseases represent a heterogeneous group of neurological conditions primarily involving dementia, motor neuron disease and movement disorders. They are mostly related to different pathophysiological processes, notably in family forms in
Oliveira, Acary Souza Bulle, Pinto, Wladimir Bocca Vieira de Rezende, Souza, Paulo Victor Sgobbi de   +2 more
core   +3 more sources

C9orf72 Alleviates DSS‑Induced Ulcerative Colitis via the cGAS‐STING Pathway

Immunity, Inflammation and Disease
Purpose C9orf72 deficiency contributes to severe inflammation in mice. Ulcerative colitis (UC) is a chronic inflammatory disorder with the shortage of clinical success. However, whether C9orf72 is involved in the progression of UC is not fully understood.
Yue Wang, Ting Xu, Wenjun Wang
doaj   +1 more source

Current developments in gene therapy for amyotrophic lateral sclerosis. [PDF]

, 2015
INTRODUCTION: Amyotrophic lateral sclerosis (ALS) is a devastating adult neurodegenerative disorder characterized by motor neuron degeneration and death around 3 years from onset.
Alrafiah, A.R., Azzouz, M., Herranz-Martín, S., Scarrott, J.M., Shaw, P.J.   +4 more
core   +1 more source

The proteostasis network and its decline in ageing

, 2019
Ageing is a major risk factor for the development of many diseases, prominently including neurodegenerative disorders such as Alzheimer disease and Parkinson disease.
Hartl, F., Hipp, M., Kasturi, P.
core   +1 more source

Oligonucleotide-based therapy for FTD/ALS caused by the C9orf72 repeat expansion: a perspective [PDF]

, 2013
Amyotrophic lateral sclerosis (ALS) is a progressive and lethal disease of motor neuron degeneration, leading to paralysis of voluntary muscles and death by respiratory failure within five years of onset. Frontotemporal dementia (FTD) is characterised by
Aoki, Yoshitsugu, Douglas, Andrew G.L., Fernandes, Stephanie A., Varela, Miguel A., Wood, Matthew J.A.   +4 more
core   +2 more sources