Simon D. Topp

De Crespigny Park
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 43 publications

Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis.

Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis.

Journal: Nature genetics
Published: August 15, 2025

Sex-specific DNA methylation differences in Amyotrophic lateral sclerosis.

Sex-specific DNA methylation differences in Amyotrophic lateral sclerosis.

Journal: bioRxiv : the preprint server for biology
Published: December 09, 2024

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

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

Journal: Nature communications
Published: July 02, 2024

SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in SOD1 amyotrophic lateral sclerosis.

SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in SOD1 amyotrophic lateral sclerosis.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration
Published: August 03, 2023

SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy.

SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy.

Journal: NPJ genomic medicine
Published: March 27, 2023

Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data.

Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data.

Journal: Frontiers in cellular neuroscience
Published: September 21, 2022

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.

Journal: Nature genetics
Published: February 01, 2022

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

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

Journal: Nature communications
Published: February 01, 2022

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.

Journal: JAMA neurology
Published: August 30, 2021

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.

Journal: Nature genetics
Published: March 12, 2021

SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed.

SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed.

Journal: Brain communications
Published: February 27, 2021

Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11.

Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11.

Journal: Stem cell research
Published: January 18, 2021
Showing 1-12 of 43

Last Updated: 09/26/2026