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

Genetic variability in sporadic amyotrophic lateral sclerosis

(2023) Sien Hilde Van Daele et al.   BRAIN

SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity

(2022) Mariusz Berdyński et al.   Scientific Reports

Nuclear SOD1 in Growth Control, Oxidative Stress Response, Amyotrophic Lateral Sclerosis, and Cancer

(2022) Joyce Xu et al.   Antioxidants

Design of a Randomized, Placebo-Controlled, Phase 3 Trial of Tofersen Initiated in Clinically Presymptomatic SOD1 Variant Carriers: the ATLAS Study

(2022) Michael Benatar et al.   Neurotherapeutics

Factors predicting disease progression in C9ORF72 ALS patients

(2022) Jessica Mandrioli et al.   JOURNAL OF NEUROLOGY

Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS

(2022) Timothy M. Miller et al.   NEW ENGLAND JOURNAL OF MEDICINE

Characterizing SOD1 mutations in Spain: The impact of genotype, age and sex in the natural history of the disease

(2022) Juan F. Vázquez‐Costa et al.   EUROPEAN JOURNAL OF NEUROLOGY

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

(2022) Ilaria Martinelli et al.   Neural Regeneration Research

The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

(2022) Sarah Opie-Martin et al.   Nature Communications

A natural history comparison of SOD1-mutant patients with amyotrophic lateral sclerosis between Chinese and German populations

(2021) Lu Tang et al.   Translational Neurodegeneration

ALS phenotype is influenced by age, sex, and genetics

(2020) Adriano Chiò et al.   NEUROLOGY

Clinical features and outcomes of the flail arm and flail leg and pure lower motor neuron MND variants: a multicentre Italian study

(2020) Paride Schito et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Phase 1–2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS

(2020) Timothy Miller et al.   NEW ENGLAND JOURNAL OF MEDICINE

Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases

(2020) Lyndal Henden et al.   npj Genomic Medicine

Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort

(2020) Maurizio Grassano et al.   NEUROLOGY

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

(2019) Lu Tang et al.   Translational Neurodegeneration

Unique characteristics of the genetics epidemiology of amyotrophic lateral sclerosis in China

(2019) Qianqian Wei et al.   Science China-Life Sciences

Genetics of amyotrophic lateral sclerosis: A review

(2019) Stéphane Mathis et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

The role of sex and sex Hormones in Neurodegenerative Diseases

(2019) Elisabetta Vegeto et al.   ENDOCRINE REVIEWS

Cardiovascular diseases may play a negative role in the prognosis of amyotrophic lateral sclerosis

(2018) J. Mandrioli et al.   EUROPEAN JOURNAL OF NEUROLOGY

Comprehensive analysis of the mutation spectrum in 301 German ALS families

(2018) Kathrin Müller et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The multistep hypothesis of ALS revisited

(2018) Adriano Chiò et al.   NEUROLOGY

Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis

(2017) Zhang-Yu Zou et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2017) Michael J. Strong et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Factors predicting survival in ALS: a multicenter Italian study

(2016) Andrea Calvo et al.   JOURNAL OF NEUROLOGY

Defining SOD1 ALS natural history to guide therapeutic clinical trial design

(2016) Taha Bali et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

ConSurf 2016: an improved methodology to estimate and visualize evolutionary conservation in macromolecules

(2016) Haim Ashkenazy et al.   NUCLEIC ACIDS RESEARCH

Genotype-phenotype correlations of amyotrophic lateral sclerosis

(2016) Hong-Fu Li et al.   Translational Neurodegeneration

Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis

(2015) Satoshi Yamashita et al.   Translational Neurodegeneration

Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis

(2014) Bing-Wen Soong et al.   NEUROBIOLOGY OF AGING

PredictSNP: Robust and Accurate Consensus Classifier for Prediction of Disease-Related Mutations

(2014) Jaroslav Bendl et al.   PLoS Computational Biology

Epidemiology of amyotrophic lateral sclerosis in Emilia Romagna Region (Italy): A population based study

(2014) Jessica Mandrioli et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Motor neuron dysfunction in a mouse model of ALS: Gender-dependent effect of P2X7 antagonism

(2013) Chiara Cervetto et al.   TOXICOLOGY

Amyotrophic lateral sclerosis: A hormonal condition?

(2012) Helene Blasco et al.   Amyotrophic Lateral Sclerosis

Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients

(2012) Afagh Alavi et al.   NEUROBIOLOGY OF AGING

Extensive genetics of ALS: A population-based study in Italy

(2012) A. Chio et al.   NEUROLOGY

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

(2011) Peter M. Andersen et al.   Nature Reviews Neurology

A mechanism for low penetrance in an ALS family with a novel SOD1 deletion

(2009) L. Zinman et al.   NEUROLOGY

Sex-specific behavioural effects of environmental enrichment in a transgenic mouse model of amyotrophic lateral sclerosis

(2008) Nathan C. Stam et al.   EUROPEAN JOURNAL OF NEUROSCIENCE