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 …

Molecular mechanisms of TDP-43 misfolding and pathology in amyotrophic lateral sclerosis

A Prasad, V Bharathi, V Sivalingam… - Frontiers in molecular …, 2019 - frontiersin.org
TAR DNA binding protein 43 (TDP-43) is a versatile RNA/DNA binding protein involved in
RNA-related metabolism. Hyper-phosphorylated and ubiquitinated TDP-43 deposits act as …

Genome-wide analyses identify KIF5A as a novel ALS gene

A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri… - Neuron, 2018 - cell.com
To identify novel genes associated with ALS, we undertook two lines of investigation. We
carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 …

ESPEN guideline clinical nutrition in neurology

R Burgos, I Bretón, E Cereda, JC Desport, R Dziewas… - Clinical Nutrition, 2018 - Elsevier
Neurological diseases are frequently associated with swallowing disorders and malnutrition.
Moreover, patients with neurological diseases are at increased risk of micronutrient …

Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model

HJ Westeneng, TPA Debray, AE Visser… - The Lancet …, 2018 - thelancet.com
Background Amyotrophic lateral sclerosis (ALS) is a relentlessly progressive, fatal motor
neuron disease with a variable natural history. There are no accurate models that predict the …

Projected increase in amyotrophic lateral sclerosis from 2015 to 2040

KC Arthur, A Calvo, TR Price, JT Geiger, A Chio… - Nature …, 2016 - nature.com
Although amyotrophic lateral sclerosis (ALS) is relatively rare, the socioeconomic
significance of the disease is extensive. It is therefore vital to project the epidemiologic trend …

The protective role of exercise against age-related neurodegeneration

A Sujkowski, L Hong, RJ Wessells, SV Todi - Ageing Research Reviews, 2022 - Elsevier
Endurance exercise is a widely accessible, low-cost intervention with a variety of benefits to
multiple organ systems. Exercise improves multiple indices of physical performance and …

The epidemiology of ALS: a conspiracy of genes, environment and time

A Al-Chalabi, O Hardiman - Nature Reviews Neurology, 2013 - nature.com
Amyotrophic lateral sclerosis (ALS) is a relentlessly progressive neurodegenerative disease
of motor neurons, resulting in worsening weakness of voluntary muscles until death from …

Global epidemiology of amyotrophic lateral sclerosis: a systematic review of the published literature

A Chiò, G Logroscino, BJ Traynor, J Collins… - …, 2013 - karger.com
Background: Amyotrophic lateral sclerosis (ALS) is relatively rare, yet the economic and
social burden is substantial. Having accurate incidence and prevalence estimates would …

Role of EGFR in the Nervous System

R Romano, C Bucci - Cells, 2020 - mdpi.com
Epidermal growth factor receptor (EGFR) is the first discovered member of the receptor
tyrosine kinase superfamily and plays a fundamental role during embryogenesis and in …