TDP-43 dysregulation and neuromuscular junction disruption in amyotrophic lateral sclerosis
S Lépine, MJ Castellanos-Montiel… - Translational …, 2022 - Springer
Amyotrophic lateral sclerosis (ALS) is a disease characterized by upper and lower motor
neuron (MN) loss with a signature feature of cytoplasmic aggregates containing TDP-43 …
neuron (MN) loss with a signature feature of cytoplasmic aggregates containing TDP-43 …
Skeletal muscle in amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS), the major adult-onset motor neuron disease, has been
viewed almost exclusively as a disease of upper and lower motor neurons, with muscle …
viewed almost exclusively as a disease of upper and lower motor neurons, with muscle …
[HTML][HTML] History of ALS and the competing theories on pathogenesis: IFCN handbook chapter
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disorder of
the human motor system, first described in the 19th Century. The etiology of ALS appears to …
the human motor system, first described in the 19th Century. The etiology of ALS appears to …
HNRNPK alleviates RNA toxicity by counteracting DNA damage in C9orf72 ALS
A 'GGGGCC'repeat expansion in the first intron of the C9orf72 gene is the most common
genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) …
genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) …
Neuromuscular disorders: finding the missing genetic diagnoses
Neuromuscular disorders (NMDs) are a wide-ranging group of diseases that seriously affect
the quality of life of affected individuals. The development of next-generation sequencing …
the quality of life of affected individuals. The development of next-generation sequencing …
Muscle-specific Bet1L knockdown induces neuromuscular denervation, motor neuron degeneration, and motor dysfunction in a rat model of familial ALS
A Eckardt, C Marble, B Fern, H Moritz… - Frontiers in …, 2025 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease characterized by specific
loss of motor neurons in the spinal cord and brain stem. Although ALS has historically been …
loss of motor neurons in the spinal cord and brain stem. Although ALS has historically been …
Proteome-wide systems genetics identifies UFMylation as a regulator of skeletal muscle function
Improving muscle function has great potential to improve the quality of life. To identify novel
regulators of skeletal muscle metabolism and function, we performed a proteomic analysis of …
regulators of skeletal muscle metabolism and function, we performed a proteomic analysis of …
RNA-seq analysis of skeletal muscle in motor neurone disease cases and controls
A Freydenzon, S Wani, V Bharti, LM Wallace… - medRxiv, 2023 - medrxiv.org
Background Amyotrophic lateral sclerosis (ALS), the most predominant form of Motor
Neuron Disease (MND), is a progressive and fatal neurodegenerative condition that spreads …
Neuron Disease (MND), is a progressive and fatal neurodegenerative condition that spreads …
[PDF][PDF] ALS associated mutations in ANXA11 cause distal axonopathy, disrupt calcium signalling, and influence RNA dynamics in patient derived motor neurons
E Hedges - 2023 - kclpure.kcl.ac.uk
The neurodegenerative disease amyotrophic lateral sclerosis (ALS) is characteristically
heterogeneous in both genetic causality and cellular pathology. In ALS, the upper and lower …
heterogeneous in both genetic causality and cellular pathology. In ALS, the upper and lower …
Differential Distribution of SOD1 Variants in Submitochondrial Compartments: A Potential Pathological Mechanism in Amyotrophic Lateral Sclerosis
M Huang - 2024 - search.proquest.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by
progressive motor neuron (MN) degeneration. Superoxide dismutase 1 (SOD1) was the first …
progressive motor neuron (MN) degeneration. Superoxide dismutase 1 (SOD1) was the first …