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Showing results (871-880 of 890) with videos related to

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American Journal of Human Genetics|July 27, 2021
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in DrosophilaLindsey D Goodman, Heidi Cope, Zelha Nil, et al.
Annals of Clinical and Translational Neurology|August 5, 2024
Application of the international criteria for optic neuritis in the Acute Optic Neuritis NetworkPhilipp Klyscz, Susanna Asseyer, Ricardo Alonso, et al.
Neuropediatrics|June 1, 2017
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological DiseaseGillian I Rice, Naoki Kitabayashi, Magalie Barth, et al.
Nature Genetics|April 2, 2014
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signalingGillian I Rice, Yoandris Del Toro Duany, Emma M Jenkinson, et al.
The Lancet. Neurology|November 5, 2013
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control studyGillian I Rice, Gabriella M A Forte, Marcin Szynkiewicz, et al.
Human Mutation|January 4, 2020
Genetic and phenotypic spectrum associated with IFIH1 gain-of-functionGillian I Rice, Sehoon Park, Francesco Gavazzi, et al.
Frontiers in Neurology|March 13, 2023
The Acute Optic Neuritis Network (ACON): Study protocol of a non-interventional prospective multicenter study on diagnosis and treatment of acute optic neuritisSusanna Asseyer, Nasrin Asgari, Jeffrey Bennett, et al.
Journal of Neurology|July 6, 2020
Treatment of MOG antibody associated disorders: results of an international surveyD H Whittam, V Karthikeayan, E Gibbons, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 28, 2017
Incidence and prevalence of NMOSD in Australia and New ZealandWajih Bukhari, Kerri M Prain, Patrick Waters, et al.
Frontiers in Neurology|July 3, 2020
Relapse Patterns in NMOSD: Evidence for Earlier Occurrence of Optic Neuritis and Possible Seasonal VariationElham Khalilidehkordi, Laura Clarke, Simon Arnett, et al.
Pageof 89

Showing results (871-880 of 890) with videos related to

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Pageof 89
American Journal of Human Genetics|July 27, 2021
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in DrosophilaLindsey D Goodman, Heidi Cope, Zelha Nil, et al.
Annals of Clinical and Translational Neurology|August 5, 2024
Application of the international criteria for optic neuritis in the Acute Optic Neuritis NetworkPhilipp Klyscz, Susanna Asseyer, Ricardo Alonso, et al.
Neuropediatrics|June 1, 2017
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological DiseaseGillian I Rice, Naoki Kitabayashi, Magalie Barth, et al.
Nature Genetics|April 2, 2014
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signalingGillian I Rice, Yoandris Del Toro Duany, Emma M Jenkinson, et al.
The Lancet. Neurology|November 5, 2013
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control studyGillian I Rice, Gabriella M A Forte, Marcin Szynkiewicz, et al.
Human Mutation|January 4, 2020
Genetic and phenotypic spectrum associated with IFIH1 gain-of-functionGillian I Rice, Sehoon Park, Francesco Gavazzi, et al.
Frontiers in Neurology|March 13, 2023
The Acute Optic Neuritis Network (ACON): Study protocol of a non-interventional prospective multicenter study on diagnosis and treatment of acute optic neuritisSusanna Asseyer, Nasrin Asgari, Jeffrey Bennett, et al.
Journal of Neurology|July 6, 2020
Treatment of MOG antibody associated disorders: results of an international surveyD H Whittam, V Karthikeayan, E Gibbons, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 28, 2017
Incidence and prevalence of NMOSD in Australia and New ZealandWajih Bukhari, Kerri M Prain, Patrick Waters, et al.
Frontiers in Neurology|July 3, 2020
Relapse Patterns in NMOSD: Evidence for Earlier Occurrence of Optic Neuritis and Possible Seasonal VariationElham Khalilidehkordi, Laura Clarke, Simon Arnett, et al.
Pageof 89