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Simon D Topp

Showing results (11-20 of 21) with videos related to

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Brain Communications|October 28, 2021
<i>SCFD1</i> expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressedAlfredo Iacoangeli, Isabella Fogh, Sashika Selvackadunco, et al.
Epilepsia|May 30, 2020
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizuresShan Tang, Laura Addis, Anna Smith, et al.
Neurobiology of Aging|July 24, 2018
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase functionMartina de Majo, Simon D Topp, Bradley N Smith, et al.
Nature Neuroscience|November 27, 2019
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock proteinSali M K Farhan, Daniel P Howrigan, Liam E Abbott, et al.
Nature Neuroscience|December 21, 2019
Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock proteinSali M K Farhan, Daniel P Howrigan, Liam E Abbott, et al.
Brain : a Journal of Neurology|March 19, 2020
CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosisCarol Dobson-Stone, Marianne Hallupp, Hamideh Shahheydari, et al.
Nature Communications|November 13, 2022
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease durationSarah Opie-Martin, Alfredo Iacoangeli, Simon D Topp, et al.
Science Translational Medicine|May 5, 2017
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosisBradley N Smith, Simon D Topp, Claudia Fallini, et al.
Nature Genetics|July 26, 2016
NEK1 variants confer susceptibility to amyotrophic lateral sclerosisKevin P Kenna, Perry T C van Doormaal, Annelot M Dekker, et al.
JAMA Neurology|August 30, 2021
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral SclerosisJanel O Johnson, Ruth Chia, Danny E Miller, et al.
Pageof 3

Showing results (11-20 of 21) with videos related to

Sort By:
Pageof 3
Brain Communications|October 28, 2021
<i>SCFD1</i> expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressedAlfredo Iacoangeli, Isabella Fogh, Sashika Selvackadunco, et al.
Epilepsia|May 30, 2020
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizuresShan Tang, Laura Addis, Anna Smith, et al.
Neurobiology of Aging|July 24, 2018
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase functionMartina de Majo, Simon D Topp, Bradley N Smith, et al.
Nature Neuroscience|November 27, 2019
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock proteinSali M K Farhan, Daniel P Howrigan, Liam E Abbott, et al.
Nature Neuroscience|December 21, 2019
Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock proteinSali M K Farhan, Daniel P Howrigan, Liam E Abbott, et al.
Brain : a Journal of Neurology|March 19, 2020
CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosisCarol Dobson-Stone, Marianne Hallupp, Hamideh Shahheydari, et al.
Nature Communications|November 13, 2022
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease durationSarah Opie-Martin, Alfredo Iacoangeli, Simon D Topp, et al.
Science Translational Medicine|May 5, 2017
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosisBradley N Smith, Simon D Topp, Claudia Fallini, et al.
Nature Genetics|July 26, 2016
NEK1 variants confer susceptibility to amyotrophic lateral sclerosisKevin P Kenna, Perry T C van Doormaal, Annelot M Dekker, et al.
JAMA Neurology|August 30, 2021
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral SclerosisJanel O Johnson, Ruth Chia, Danny E Miller, et al.
Pageof 3