Amyotrophic lateral sclerosis

EL Feldman, SA Goutman, S Petri, L Mazzini… - The Lancet, 2022 - thelancet.com
Amyotrophic lateral sclerosis is a fatal CNS neurodegenerative disease. Despite intensive
research, current management of amyotrophic lateral sclerosis remains suboptimal from …

Emerging insights into the complex genetics and pathophysiology of amyotrophic lateral sclerosis

SA Goutman, O Hardiman, A Al-Chalabi… - The Lancet …, 2022 - thelancet.com
Amyotrophic lateral sclerosis is a fatal neurodegenerative disease. The discovery of genes
associated with amyotrophic lateral sclerosis, commencing with SOD1 in 1993, started fairly …

Recent advances in the diagnosis and prognosis of amyotrophic lateral sclerosis

SA Goutman, O Hardiman, A Al-Chalabi… - The Lancet …, 2022 - thelancet.com
The diagnosis of amyotrophic lateral sclerosis can be challenging due to its heterogeneity in
clinical presentation and overlap with other neurological disorders. Diagnosis early in the …

[HTML][HTML] Role of edaravone as a treatment option for patients with amyotrophic lateral sclerosis

HE Cho, S Shukla - Pharmaceuticals, 2020 - mdpi.com
Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig's disease, is a progressive
and fatal neurodegenerative disease that leads to a loss of muscle control due to nerve cells …

[HTML][HTML] Masitinib: The promising actor in the next season of the Amyotrophic Lateral Sclerosis treatment series

AHME Ketabforoush, R Chegini, S Barati… - Biomedicine & …, 2023 - Elsevier
Abstract Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease with high
mortality and morbidity rate affecting both upper and lower motor neurons (MN). Muscle …

Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders

J Gilley, O Jackson, M Pipis, MA Estiar, A Al-Chalabi… - Elife, 2021 - elifesciences.org
SARM1, a protein with critical NADase activity, is a central executioner in a conserved
programme of axon degeneration. We report seven rare missense or in-frame microdeletion …

[HTML][HTML] Machine learning in amyotrophic lateral sclerosis: achievements, pitfalls, and future directions

V Grollemund, PF Pradat, G Querin, F Delbot… - Frontiers in …, 2019 - frontiersin.org
Background: Amyotrophic Lateral Sclerosis (ALS) is a relentlessly progressive
neurodegenerative condition with limited therapeutic options at present. Survival from …

Untargeted metabolomics yields insight into ALS disease mechanisms

SA Goutman, J Boss, K Guo, FM Alakwaa… - Journal of Neurology …, 2020 - jnnp.bmj.com
Objective To identify dysregulated metabolic pathways in amyotrophic lateral sclerosis (ALS)
versus control participants through untargeted metabolomics. Methods Untargeted …

[HTML][HTML] NK cells associate with ALS in a sex-and age-dependent manner

BJ Murdock, JP Famie, CE Piecuch, KD Pawlowski… - JCI insight, 2021 - ncbi.nlm.nih.gov
NK cells are innate immune cells implicated in ALS; whether NK cells impact ALS in a sex-
and age-specific manner was investigated. Herein, NK cells were depleted in male and …

Motor neuron disease: pathophysiology, diagnosis, and management

LA Foster, MK Salajegheh - The American journal of medicine, 2019 - Elsevier
Patients with motor neuron diseases may present to primary care clinic or may be initially
encountered in the inpatient setting. Timely diagnosis of these conditions is a key factor in …