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 …

Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications

R Chia, A Chiò, BJ Traynor - The Lancet Neurology, 2018 - thelancet.com
Background The disease course of amyotrophic lateral sclerosis (ALS) is rapid and,
because its pathophysiology is unclear, few effective treatments are available. Genetic …

Amyotrophic lateral sclerosis-frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria

MJ Strong, S Abrahams, LH Goldstein… - … lateral sclerosis and …, 2017 - Taylor & Francis
This article presents the revised consensus criteria for the diagnosis of frontotemporal
dysfunction in amyotrophic lateral sclerosis (ALS) based on an international research …

TBK1: a new player in ALS linking autophagy and neuroinflammation

JA Oakes, MC Davies, MO Collins - Molecular brain, 2017 - Springer
Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disorder affecting
motor neurons, resulting in progressive muscle weakness and death by respiratory failure …

Modelling amyotrophic lateral sclerosis in rodents

TW Todd, L Petrucelli - Nature Reviews Neuroscience, 2022 - nature.com
The efficient study of human disease requires the proper tools, one of the most crucial of
which is an accurate animal model that faithfully recapitulates the human condition. The …

Familial normal tension glaucoma genetics

AR Fox, JH Fingert - Progress in retinal and eye research, 2023 - Elsevier
Glaucoma is defined by characteristic optic nerve damage and corresponding visual field
defects and is the leading cause of irreversible blindness in the world. Elevated intraocular …

Genotype–phenotype links in frontotemporal lobar degeneration

S Van Mossevelde, S Engelborghs… - Nature Reviews …, 2018 - nature.com
Frontotemporal lobar degeneration (FTLD) represents a group of neurodegenerative brain
diseases with highly heterogeneous clinical, neuropathological and genetic characteristics …

Multifaceted genes in amyotrophic lateral sclerosis-frontotemporal dementia

R Ranganathan, S Haque, K Coley… - Frontiers in …, 2020 - frontiersin.org
Amyotrophic lateral sclerosis and frontotemporal dementia are two progressive, adult onset
neurodegenerative diseases, caused by the cell death of motor neurons in the motor cortex …

Frontotemporal dementia

J Deleon, BL Miller - Handbook of clinical neurology, 2018 - Elsevier
Frontotemporal dementia (FTD) is a neurodegenerative disorder characterized by
progressive changes in behavior, personality, and language with involvement of the frontal …

TBK1, a prioritized drug repurposing target for amyotrophic lateral sclerosis: evidence from druggable genome Mendelian randomization and pharmacological …

QQ Duan, H Wang, WM Su, XJ Gu, XF Shen, Z Jiang… - BMC medicine, 2024 - Springer
Background There is a lack of effective therapeutic strategies for amyotrophic lateral
sclerosis (ALS); therefore, drug repurposing might provide a rapid approach to meet the …