Frontotemporal lobar degeneration
Frontotemporal lobar degeneration (FTLD) is one of the most common causes of early-onset
dementia and presents with early social–emotional–behavioural and/or language changes …
dementia and presents with early social–emotional–behavioural and/or language changes …
Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report
PT Nelson, DW Dickson, JQ Trojanowski, CR Jack… - Brain, 2019 - academic.oup.com
We describe a recently recognized disease entity, limbic-predominant age-related TDP-43
encephalopathy (LATE). LATE neuropathological change (LATE-NC) is defined by a …
encephalopathy (LATE). LATE neuropathological change (LATE-NC) is defined by a …
The post-GWAS era: from association to function
MD Gallagher, AS Chen-Plotkin - The American Journal of Human …, 2018 - cell.com
During the past 12 years, genome-wide association studies (GWASs) have uncovered
thousands of genetic variants that influence risk for complex human traits and diseases. Yet …
thousands of genetic variants that influence risk for complex human traits and diseases. Yet …
Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference
The heterogeneity of neurodegenerative diseases is a key confound to disease
understanding and treatment development, as study cohorts typically include multiple …
understanding and treatment development, as study cohorts typically include multiple …
Accumulation of TMEM106B C-terminal fragments in neurodegenerative disease and aging
Several studies using cryogenic electron microscopy (cryo-EM) techniques recently reported
the isolation and characterization of novel protein filaments, composed of a C-terminal …
the isolation and characterization of novel protein filaments, composed of a C-terminal …
TMEM106B core deposition associates with TDP-43 pathology and is increased in risk SNP carriers for frontotemporal dementia
JD Marks, VE Ayuso, Y Carlomagno, M Yue… - Science translational …, 2024 - science.org
Genetic variation at the transmembrane protein 106B gene (TMEM106B) has been linked to
risk of frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) through an …
risk of frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) through an …
[HTML][HTML] Neurobiology of axonal transport defects in motor neuron diseases: Opportunities for translational research?
KJ De Vos, M Hafezparast - Neurobiology of disease, 2017 - Elsevier
Intracellular trafficking of cargoes is an essential process to maintain the structure and
function of all mammalian cell types, but especially of neurons because of their extreme …
function of all mammalian cell types, but especially of neurons because of their extreme …
C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis
C9orf72 hexanucleotide repeat expansions are the most common cause of familial
frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) worldwide. The …
frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) worldwide. The …
Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine
Frontotemporal lobar degeneration (FTLD) comprises two main classes of
neurodegenerative diseases characterized by neuronal/glial proteinaceous inclusions (ie …
neurodegenerative diseases characterized by neuronal/glial proteinaceous inclusions (ie …
The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease
A nucleotide repeat expansion (NRE) within the chromosome 9 open reading frame 72
(C9orf72) gene was the first of this type of mutation to be linked to multiple neurological …
(C9orf72) gene was the first of this type of mutation to be linked to multiple neurological …