Publications by authors named "Simon D Topp"

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Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Sarah Opie-Martin, Alfredo Iacoangeli, Simon D Topp, Olubunmi Abel, Keith Mayl

Nat Commun· July 2024

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SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in amyotrophic lateral sclerosis.
Thomas P Spargo, Sarah Opie-Martin, Guy P Hunt, Munishikha Kalia, Ahmad Al Khleifat, Simon D Topp

Amyotroph Lateral Scler Frontotemporal Degener· August 2023

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The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Sarah Opie-Martin, Alfredo Iacoangeli, Simon D Topp, Olubunmi Abel, Keith Mayl

Nat Commun· November 2022

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A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay.
Marc Gotkine, Martina de Majo, Chun Hao Wong, Simon D Topp, Rachel Michaelson-Cohen

Neurobiol Aging· October 2021

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Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Janel O Johnson, Ruth Chia, Danny E Miller, Rachel Li, Ravindran Kumaran, Simon D Topp, Simon D Topp

JAMA Neurol· October 2021

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expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed.
Alfredo Iacoangeli, Isabella Fogh, Sashika Selvackadunco, Simon D Topp, Aleksey Shatunov

Brain Commun· October 2021

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Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.
Shan Tang, Laura Addis, Anna Smith, Simon D Topp, Manuela Pendziwiat

Epilepsia· May 2020

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CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.
Carol Dobson-Stone, Marianne Hallupp, Hamideh Shahheydari, Audrey M G Ragagnin, Zac Chatterton, Simon D Topp

Brain· March 2020

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Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.
Sali M K Farhan, Daniel P Howrigan, Liam E Abbott, Joseph R Klim, Simon D Topp

Nat Neurosci· February 2020

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RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy.
Han-Jou Chen, Simon D Topp, Ho Sang Hui, Elsa Zacco, Malvika Katarya

Brain· December 2019

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Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.
Sali M K Farhan, Daniel P Howrigan, Liam E Abbott, Joseph R Klim, Simon D Topp

Nat Neurosci· December 2019

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ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patients.
Alfredo Iacoangeli, Ahmad Al Khleifat, William Sproviero, Aleksey Shatunov, Ashley R Jones, Simon D Topp

Amyotroph Lateral Scler Frontotemporal Degener· May 2019

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ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.
Martina de Majo, Simon D Topp, Bradley N Smith, Agnes L Nishimura, Han-Jou Chen

Neurobiol Aging· November 2018

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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Aude Nicolas, Kevin P Kenna, Alan E Renton, Nicola Ticozzi, Faraz Faghri, Simon D Topp

Neuron· March 2018

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Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.
Bradley N Smith, Simon D Topp, Claudia Fallini, Hideki Shibata, Han-Jou Chen

Sci Transl Med· May 2017

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NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.
Kevin P Kenna, Perry T C van Doormaal, Annelot M Dekker, Nicola Ticozzi, Brendan J Kenna, Simon D Topp

Nat Genet· September 2016

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Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene.
Louisa Kent, Thomas N Vizard, Bradley N Smith, Simon D Topp, Caroline Vance

Amyotroph Lateral Scler Frontotemporal Degener· December 2014

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Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients.
Lauren Johnson, Jack W Miller, Athina Soragia Gkazi, Caroline Vance, Simon D Topp

Neurobiol Aging· December 2012

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Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients.
Jack W Miller, Bradley N Smith, Simon D Topp, Ammar Al-Chalabi, Christopher E Shaw

Neurobiol Aging· November 2012

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Deep resequencing unveils genetic architecture of ADIPOQ and identifies a novel low-frequency variant strongly associated with adiponectin variation.
Liling L Warren, Li Li, Matthew R Nelson, Margaret G Ehm, Judong Shen, Simon D Topp

Diabetes· May 2012

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The role of positive selection in determining the molecular cause of species differences in disease.
Jessica J Vamathevan, Samiul Hasan, Richard D Emes, Heather Amrine-Madsen, Dilip Rajagopalan, Simon D Topp

BMC Evol Biol· October 2008

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New methods for researching accessory proteins.
Steven M Foord, Simon D Topp, Marco Abramo, Joanna D Holbrook

J Mol Neurosci· October 2005

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