Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges

G Marangi, BJ Traynor - Brain research, 2015 - Elsevier
The genetic architecture of amyotrophic lateral sclerosis (ALS) is being increasingly
understood. In this far-reaching review, we examine what is currently known about ALS …

SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity

M Berdyński, P Miszta, K Safranow, PM Andersen… - Scientific Reports, 2022 - nature.com
Mutations in superoxide dismutase 1 gene (SOD1) are linked to amyotrophic lateral
sclerosis (ALS), a neurodegenerative disorder predominantly affecting upper and lower …

Clinical and genetic heterogeneity of amyotrophic lateral sclerosis

M Sabatelli, A Conte, M Zollino - Clinical genetics, 2013 - Wiley Online Library
Although clinical picture of amyotrophic lateral sclerosis (ALS) is a stereotypical one,
resulting from combination of signs secondary to dysfunction of both upper motor neuron …

[HTML][HTML] Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians

J Roggenbuck, A Quick, SJ Kolb - Genetics in Medicine, 2017 - Elsevier
Patients with amyotrophic lateral sclerosis (ALS) often have questions about why they
developed the disease and the likelihood that family members will also be affected. In recent …

De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients

A Huebers, W Just, A Rosenbohm, K Mueller… - Neurobiology of …, 2015 - Elsevier
In amyotrophic lateral sclerosis (ALS) patients with known genetic cause, mutations in
chromosome 9 open reading frame 72 (C9orf72) and superoxide dismutase 1 (SOD1) …

Unveiling the SOD1-mediated ALS phenotype: insights from a comprehensive meta-analysis

T Domi, P Schito, G Sferruzza, T Russo, L Pozzi… - Journal of …, 2024 - Springer
Background and objectives Amyotrophic lateral sclerosis associated with mutations in SOD1
(SOD1-ALS) might be susceptible to specific treatment. The aim of the study is to outline the …

The landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis

I Martinelli, E Zucchi, C Simonini… - Neural Regeneration …, 2023 - journals.lww.com
Although mutations in the superoxide dismutase 1 gene account for only a minority of total
amyotrophic lateral sclerosis cases, the discovery of this gene has been crucial for …

Better survival in female SOD1-mutant patients with ALS: a study of SOD1-related natural history

L Tang, Y Ma, X Liu, L Chen, D Fan - Translational neurodegeneration, 2019 - Springer
Background SOD1 mutations are the most common cause of amyotrophic lateral sclerosis
(ALS) in non-Caucasian patients. Detailed natural history profiles of SOD1-mutant patients …

Genetic testing for amyotrophic lateral sclerosis and frontotemporal dementia: impact on clinical management

J Roggenbuck, JC Fong - Clinics in Laboratory Medicine, 2020 - labmed.theclinics.com
Ten years ago, commercial genetic testing for amyotrophic lateral sclerosis (ALS) was
limited to SOD1 sequencing, while only MAPT and GRN sequencing was available for …

Predictors for progression in amyotrophic lateral sclerosis associated to SOD1 mutation: Insight from two population-based registries

I Martinelli, A Ghezzi, E Zucchi, G Gianferrari, L Ferri… - Journal of …, 2023 - Springer
Background Uncovering distinct features and trajectories of amyotrophic lateral sclerosis
(ALS) associated with SOD1 mutations (SOD1-ALS) can provide valuable insights for …