[PDF][PDF] A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD)
locus contains one of the last major unidentified autosomal-dominant genes underlying …
locus contains one of the last major unidentified autosomal-dominant genes underlying …
A major role for common genetic variation in anxiety disorders
Anxiety disorders are common, complex psychiatric disorders with twin heritabilities of 30–
60%. We conducted a genome-wide association study of Lifetime Anxiety Disorder (n case …
60%. We conducted a genome-wide association study of Lifetime Anxiety Disorder (n case …
Cell subtype-specific effects of genetic variation in the Alzheimer's disease brain
The relationship between genetic variation and gene expression in brain cell types and
subtypes remains understudied. Here, we generated single-nucleus RNA sequencing data …
subtypes remains understudied. Here, we generated single-nucleus RNA sequencing data …
[HTML][HTML] TDP-43 pathology in Alzheimer's disease
A Meneses, S Koga, J O'Leary, DW Dickson… - Molecular …, 2021 - Springer
Transactive response DNA binding protein of 43 kDa (TDP-43) is an intranuclear protein
encoded by the TARDBP gene that is involved in RNA splicing, trafficking, stabilization, and …
encoded by the TARDBP gene that is involved in RNA splicing, trafficking, stabilization, and …
Lysosome trafficking and signaling in health and neurodegenerative diseases
PPY Lie, RA Nixon - Neurobiology of disease, 2019 - Elsevier
Lysosomes, single-membrane organelles defined by a uniquely strong acidic lumenal pH
and high content of acid hydrolases, are the shared degradative compartments of the …
and high content of acid hydrolases, are the shared degradative compartments of the …
A rizona S tudy of A ging and N eurodegenerative D isorders and B rain and B ody D onation P rogram
The B rain and B ody D onation P rogram (BBDP) at B anner S un H ealth R esearch I
nstitute (http://www. brainandbodydonationprogram. org) started in 1987 with brain‐only …
nstitute (http://www. brainandbodydonationprogram. org) started in 1987 with brain‐only …
Two FTD-ALS genes converge on the endosomal pathway to induce TDP-43 pathology and degeneration
Frontotemporal dementia and amyotrophic lateral sclerosis (FTD-ALS) are associated with
both a repeat expansion in the C9orf72 gene and mutations in the TANK-binding kinase 1 …
both a repeat expansion in the C9orf72 gene and mutations in the TANK-binding kinase 1 …
[HTML][HTML] Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
E Majounie, AE Renton, K Mok, EGP Dopper… - The Lancet …, 2012 - thelancet.com
Background We aimed to accurately estimate the frequency of a hexanucleotide repeat
expansion in C9orf72 that has been associated with a large proportion of cases of …
expansion in C9orf72 that has been associated with a large proportion of cases of …
TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia
IRA Mackenzie, R Rademakers… - The Lancet Neurology, 2010 - thelancet.com
Abnormal intracellular protein aggregates comprise a key characteristic in most
neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and …
neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and …
Chronic traumatic encephalopathy pathology in a neurodegenerative disorders brain bank
KF Bieniek, OA Ross, KA Cormier, RL Walton… - Acta …, 2015 - Springer
Chronic traumatic encephalopathy (CTE) is a progressive neurodegenerative disorder
linked to repetitive traumatic brain injury (TBI) and characterized by deposition of …
linked to repetitive traumatic brain injury (TBI) and characterized by deposition of …