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Jennifer L Orthmann-Murphy

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Brain : a Journal of Neurology|December 6, 2008
Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutationsJennifer L Orthmann-Murphy, Ettore Salsano, Charles K Abrams, et al.
The Journal of General Physiology|June 10, 2025
Molecular dynamics simulation of GJC2 mutants reveal pathogenic mechanisms of PMLD1 and SPG44David Gong, Jennifer L Orthmann-Murphy, Deepak Kumar, et al.
Neurology. Genetics|October 7, 2024
Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and AdrenomyeloneuropathyAlexandra B Kornbluh, Aaron Baldwin, Ali Fatemi, et al.
Glia|September 24, 2017
Lineage tracing reveals dynamic changes in oligodendrocyte precursor cells following cuprizone-induced demyelinationEmily G Baxi, Joseph DeBruin, Jing Jin, et al.
Nature Immunology|June 26, 2025
Mutations in the human CSF1R gene impact microglia's maintenance of brain white matter integritySiling Du, Yingyue Zhou, Dian Li, et al.
JIMD Reports|April 8, 2026
Unifying the Communities of Early-Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of <i>GBE1</i>-Related DiseaseRebecca L Koch, H Orhan Akman, Erin Chown, et al.
Molecular Genetics and Metabolism|February 16, 2023
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resourceRebecca L Koch, Claudia Soler-Alfonso, Bridget T Kiely, et al.
Neurology|February 6, 2026
Use of Brain MRI in Cerebral Adrenoleukodystrophy: International Recommendations for Screening, Monitoring, and ResearchHemmo A F Yska, Marianne Golse, Damien Galanaud, et al.
Medrxiv : the Preprint Server for Health Sciences|June 5, 2026
Normative modeling for quantitative brain MRI phenotyping and biomarker discovery for pediatric leukodystrophiesShivaram Karandikar, Anjana Sevagamoorthy, Dabriel Zimmerman, et al.
Neurology|November 13, 2025
Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White MatterRomy J van Voorst, Daphne H Schoenmakers, Joshua L Bonkowsky, et al.
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Showing results (11-20 of 20) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 20 results.
Brain : a Journal of Neurology|December 6, 2008
Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutationsJennifer L Orthmann-Murphy, Ettore Salsano, Charles K Abrams, et al.
The Journal of General Physiology|June 10, 2025
Molecular dynamics simulation of GJC2 mutants reveal pathogenic mechanisms of PMLD1 and SPG44David Gong, Jennifer L Orthmann-Murphy, Deepak Kumar, et al.
Neurology. Genetics|October 7, 2024
Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and AdrenomyeloneuropathyAlexandra B Kornbluh, Aaron Baldwin, Ali Fatemi, et al.
Glia|September 24, 2017
Lineage tracing reveals dynamic changes in oligodendrocyte precursor cells following cuprizone-induced demyelinationEmily G Baxi, Joseph DeBruin, Jing Jin, et al.
Nature Immunology|June 26, 2025
Mutations in the human CSF1R gene impact microglia's maintenance of brain white matter integritySiling Du, Yingyue Zhou, Dian Li, et al.
JIMD Reports|April 8, 2026
Unifying the Communities of Early-Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of <i>GBE1</i>-Related DiseaseRebecca L Koch, H Orhan Akman, Erin Chown, et al.
Molecular Genetics and Metabolism|February 16, 2023
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resourceRebecca L Koch, Claudia Soler-Alfonso, Bridget T Kiely, et al.
Neurology|February 6, 2026
Use of Brain MRI in Cerebral Adrenoleukodystrophy: International Recommendations for Screening, Monitoring, and ResearchHemmo A F Yska, Marianne Golse, Damien Galanaud, et al.
Medrxiv : the Preprint Server for Health Sciences|June 5, 2026
Normative modeling for quantitative brain MRI phenotyping and biomarker discovery for pediatric leukodystrophiesShivaram Karandikar, Anjana Sevagamoorthy, Dabriel Zimmerman, et al.
Neurology|November 13, 2025
Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White MatterRomy J van Voorst, Daphne H Schoenmakers, Joshua L Bonkowsky, et al.
Pageof 2