Recent progress of the genetics of amyotrophic lateral sclerosis and challenges of gene therapy

H Wang, LP Guan, M Deng - Frontiers in neuroscience, 2023 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by the
degeneration of motor neurons in the brain and spinal cord. The causes of ALS are not fully …

Amyotrophic lateral sclerosis: molecular mechanisms, biomarkers, and therapeutic strategies

X Yang, Y Ji, W Wang, L Zhang, Z Chen, M Yu, Y Shen… - Antioxidants, 2021 - mdpi.com
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with the progressive
loss of motor neurons, leading to a fatal paralysis. According to whether there is a family …

Genetic epidemiology of amyotrophic lateral sclerosis in Cyprus: a population-based study

E Mitsi, C Votsi, P Koutsou, A Georghiou… - Scientific Reports, 2024 - nature.com
Amyotrophic lateral sclerosis (ALS) is a devastating, uniformly lethal degenerative disease
of motor neurons, presenting with relentlessly progressive muscle atrophy and weakness …

Generation of an Open-access patient-derived iPSC biobank for amyotrophic lateral sclerosis disease modelling

EC Hedges, G Cocks, CE Shaw, AL Nishimura - Genes, 2023 - mdpi.com
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease affecting
the upper and lower motor neurons, causing patients to lose control over voluntary …

Identification of a pathogenic mutation in ARPP21 in patients with amyotrophic lateral sclerosis

O Dols-Icardo, Á Carbayo, I Jericó… - Journal of Neurology …, 2025 - jnnp.bmj.com
Background and objective Between 5% and 10% of amyotrophic lateral sclerosis (ALS)
cases have a family history of the disease, 30% of which do not have an identifiable …

Clinical and Genetic Analysis of A Father-Son Duo with Monomelic Amyotrophy: Case Report

S Khurana, A Vats, M Gourie-Devi… - Annals of Indian …, 2023 - journals.lww.com
Monomelic Amyotrophy (MMA) is a rare neurological disorder restricted to one upper limb,
predominantly affecting young males with an unknown aetiopathogenesis. We report a …

Genetic and Functional Analysis of Glycosyltransferase 8 Domain–Containing Protein 1 in Taiwanese Patients With Amyotrophic Lateral Sclerosis

PC Tsai, KY Jih, TY Shen, YH Liu, KP Lin… - Neurology …, 2021 - AAN Enterprises
Background and Objectives To investigate the frequency, spectrum, and molecular
functional effect of glycosyltransferase 8 domain-containing protein 1 (GLT8D1) variations in …

[PDF][PDF] Comprehensive genetic analysis of a Hungarian amyotrophic lateral sclerosis cohort

ZF Nagy - core.ac.uk
Comprehensive genetic analysis of a Hungarian amyotrophic lateral sclerosis cohort Ph.D thesis
Zsófia Flóra Nagy MD Doctoral Page 1 - 1 - Comprehensive genetic analysis of a Hungarian …

Amyotrophic lateral sclerosis

Z Lin, AN Ibrahim, RH Brown, J Sreedharan - Rosenberg's Molecular and …, 2025 - Elsevier
In this chapter, we will review those genes most strongly associated with classical
amyotrophic lateral sclerosis (ALS). We will not review the clinical features of this disorder in …

[CITATION][C] Highly efficient base editing in rabbit by using near-PAMless engineered CRISPR/Cas9 variants

Z Zhang, X Wu, J Yang, X Liu, R Liu, Y Song - Science China Life …, 2023 - Springer
Base editors can achieve targeted C-to-T and A-to-G conversion without the generation of
DNA double-strand breaks (DSBs) or the requirement of a donor template, showing the …