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Simon D Topp

Showing results (1-10 of 21) with videos related to

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Journal of Molecular Neuroscience : MN|July 14, 2005
New methods for researching accessory proteinsSteven M Foord, Simon D Topp, Marco Abramo, et al.
Neurobiology of Aging|July 14, 2012
Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patientsJack W Miller, Bradley N Smith, Simon D Topp, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|June 6, 2014
Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) geneLouisa Kent, Thomas N Vizard, Bradley N Smith, et al.
Neurobiology of Aging|August 16, 2012
Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patientsLauren Johnson, Jack W Miller, Athina Soragia Gkazi, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|August 3, 2023
SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in <i>SOD1</i> amyotrophic lateral sclerosisThomas P Spargo, Sarah Opie-Martin, Guy P Hunt, et al.
Brain : a Journal of Neurology|October 13, 2019
RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathyHan-Jou Chen, Simon D Topp, Ho Sang Hui, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|March 6, 2019
ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patientsAlfredo Iacoangeli, Ahmad Al Khleifat, William Sproviero, et al.
BMC Evolutionary Biology|October 8, 2008
The role of positive selection in determining the molecular cause of species differences in diseaseJessica J Vamathevan, Samiul Hasan, Richard D Emes, et al.
Neurobiology of Aging|July 17, 2021
A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decayMarc Gotkine, Martina de Majo, Chun Hao Wong, et al.
Diabetes|March 10, 2012
Deep resequencing unveils genetic architecture of ADIPOQ and identifies a novel low-frequency variant strongly associated with adiponectin variationLiling L Warren, Li Li, Matthew R Nelson, et al.
Pageof 3

Showing results (1-10 of 21) with videos related to

Sort By:
Pageof 3
Journal of Molecular Neuroscience : MN|July 14, 2005
New methods for researching accessory proteinsSteven M Foord, Simon D Topp, Marco Abramo, et al.
Neurobiology of Aging|July 14, 2012
Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patientsJack W Miller, Bradley N Smith, Simon D Topp, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|June 6, 2014
Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) geneLouisa Kent, Thomas N Vizard, Bradley N Smith, et al.
Neurobiology of Aging|August 16, 2012
Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patientsLauren Johnson, Jack W Miller, Athina Soragia Gkazi, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|August 3, 2023
SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in <i>SOD1</i> amyotrophic lateral sclerosisThomas P Spargo, Sarah Opie-Martin, Guy P Hunt, et al.
Brain : a Journal of Neurology|October 13, 2019
RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathyHan-Jou Chen, Simon D Topp, Ho Sang Hui, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|March 6, 2019
ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patientsAlfredo Iacoangeli, Ahmad Al Khleifat, William Sproviero, et al.
BMC Evolutionary Biology|October 8, 2008
The role of positive selection in determining the molecular cause of species differences in diseaseJessica J Vamathevan, Samiul Hasan, Richard D Emes, et al.
Neurobiology of Aging|July 17, 2021
A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decayMarc Gotkine, Martina de Majo, Chun Hao Wong, et al.
Diabetes|March 10, 2012
Deep resequencing unveils genetic architecture of ADIPOQ and identifies a novel low-frequency variant strongly associated with adiponectin variationLiling L Warren, Li Li, Matthew R Nelson, et al.
Pageof 3