ALS genetics, mechanisms, and therapeutics: where are we now?

R Mejzini, LL Flynn, IL Pitout, S Fletcher… - Frontiers in …, 2019 - frontiersin.org
The scientific landscape surrounding amyotrophic lateral sclerosis (ALS) continues to shift
as the number of genes associated with the disease risk and pathogenesis, and the cellular …

The role of VCP mutations in the Spectrum of amyotrophic lateral sclerosis—frontotemporal dementia

E Scarian, G Fiamingo, L Diamanti, I Palmieri… - Frontiers in …, 2022 - frontiersin.org
Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) are two
neurological diseases which, respectively, and primarily affect motor neurons and …

Mitochondria, a key target in amyotrophic lateral sclerosis pathogenesis

EC Genin, M Abou-Ali, V Paquis-Flucklinger - Genes, 2023 - mdpi.com
Mitochondrial dysfunction occurs in numerous neurodegenerative diseases, particularly
amyotrophic lateral sclerosis (ALS), where it contributes to motor neuron (MN) death. Of all …

The occurrence of FUS mutations in pediatric amyotrophic lateral sclerosis: a case report and review of the literature

V Picher-Martel, F Brunet, N Dupré… - Journal of child …, 2020 - journals.sagepub.com
Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease affecting both
upper and lower motor neurons and leading to progressive paralysis. Most cases are …

Novel and recurrent mutations in a cohort of Chinese patients with young-onset amyotrophic lateral sclerosis

J Deng, W Wu, Z Xie, Q Gang, M Yu, J Liu… - Frontiers in …, 2019 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects
nerve cells in the brain and spinal cord. More than 25 ALS-related genes have been …

FUS gene mutation in amyotrophic lateral sclerosis: a new case report and systematic review

X Xiao, M Li, Z Ye, X He, J Wei… - … Lateral Sclerosis and …, 2024 - Taylor & Francis
Objective Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease
associated with upper and lower motor neuron degeneration and necrosis, characterized by …

Modeling neuromuscular diseases in zebrafish

J Singh, SA Patten - Frontiers in Molecular Neuroscience, 2022 - frontiersin.org
Neuromuscular diseases are a diverse group of conditions that affect the motor system and
present some overlapping as well as distinct clinical manifestations. Although individually …

Modern approaches in gene therapy of motor neuron diseases

M Zakharova - Medicinal Research Reviews, 2021 - Wiley Online Library
Motor neuron disorders are a group of neurodegenerative diseases characterized by muscle
weakness, loss of ambulation, respiratory insufficiency, leading to an early death. Spinal …

Amyotrophic lateral sclerosis caused by FUS mutations: advances with broad implications

TG Moens, S Da Cruz, M Neumann… - The Lancet …, 2025 - thelancet.com
Autosomal dominant mutations in the gene encoding the DNA and RNA binding protein FUS
are a cause of amyotrophic lateral sclerosis (ALS), and about 0· 3–0· 9% of patients with …

Clinical characteristics in amyotrophic lateral sclerosis with Sub-Saharan Africa ancestry–A Portuguese hospital-based cohort study

MO Santos, M Gromicho, S Pinto… - Clinical Neurology and …, 2023 - Elsevier
3. Results A total of 1633 ALS patients were included. Thirty out of 1633 patients (1.8%) met
our criteria for SA ALS. Although excluded from the analysis, we identified two additional …