C9orf72-mediated ALS and FTD: multiple pathways to disease
R Balendra, AM Isaacs - Nature Reviews Neurology, 2018 - nature.com
The discovery that repeat expansions in the C9orf72 gene are a frequent cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …
Decoding ALS: from genes to mechanism
Amyotrophic lateral sclerosis (ALS) is a progressive and uniformly fatal neurodegenerative
disease. A plethora of genetic factors have been identified that drive the degeneration of …
disease. A plethora of genetic factors have been identified that drive the degeneration of …
C9ORF72: what it is, what it does, and why it matters
J Smeyers, EG Banchi, M Latouche - Frontiers in cellular …, 2021 - frontiersin.org
When the non-coding repeat expansion in the C9ORF72 gene was discovered to be the
most frequent cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis …
most frequent cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis …
Pathological combinations in neurodegenerative disease are heterogeneous and disease-associated
JL Robinson, SX **e, DR Baer, ER Suh… - Brain, 2023 - academic.oup.com
Pathologies that are causative for neurodegenerative disease (ND) are also frequently
present in unimpaired, older individuals. In this retrospective study of 1647 autopsied …
present in unimpaired, older individuals. In this retrospective study of 1647 autopsied …
Motor neuron susceptibility in ALS/FTD
AMG Ragagnin, S Shadfar, M Vidal… - Frontiers in …, 2019 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the
death of both upper and lower motor neurons (MNs) in the brain, brainstem and spinal cord …
death of both upper and lower motor neurons (MNs) in the brain, brainstem and spinal cord …
Expansion of the classification of FTLD-TDP: distinct pathology associated with rapidly progressive frontotemporal degeneration
Frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) can typically be
categorized into one of four distinct histopathologic patterns of TDP-43 pathology, types A to …
categorized into one of four distinct histopathologic patterns of TDP-43 pathology, types A to …
Prion-like propagation of protein misfolding and aggregation in amyotrophic lateral sclerosis
The discovery that prion protein can misfold into a pathological conformation that encodes
structural information capable of both propagation and inducing severe neuropathology has …
structural information capable of both propagation and inducing severe neuropathology has …
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 …