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TDP43 aggregates: the ‘Schrödinger’s cat’ in amyotrophic lateral sclerosis

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

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

(2020) Lyndal Henden et al.   npj Genomic Medicine

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

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

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Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials

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The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease

(2016) Jae Whan Keum et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

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Genotype-phenotype correlations of amyotrophic lateral sclerosis

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

Clinical and demographic factors and outcome of amyotrophic lateral sclerosis in relation to population ancestral origin

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Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study

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The role of FUS gene variants in neurodegenerative diseases

(2014) Hao Deng et al.   Nature Reviews Neurology

Structural similarity of wild-type and ALS-mutant superoxide dismutase-1 fibrils using limited proteolysis and atomic force microscopy

(2013) P. K. Chan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

C9orf72 Hexanucleotide Repeat Expansions as the Causative Mutation for Chromosome 9p21–Linked Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

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ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics

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Modelling the Effects of Penetrance and Family Size on Rates of Sporadic and Familial Disease

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Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

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Structural and biophysical properties of metal-free pathogenic SOD1 mutants A4V and G93A

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SOD1 and cognitive dysfunction in familial amyotrophic lateral sclerosis

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The role of transactive response DNA-binding protein-43 in amyotrophic lateral sclerosis and frontotemporal dementia

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