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Showing results (161-170 of 217) with videos related to

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Molecular Genetics and Metabolism|February 17, 2015
Disease specific therapies in leukodystrophies and leukoencephalopathiesGuy Helman, Keith Van Haren, Joshua L Bonkowsky, et al.
Human Mutation|February 12, 2019
Cerebral hypomyelination associated with biallelic variants of FIG4Guy M Lenk, Ian R Berry, Chloe A Stutterd, et al.
Human Mutation|May 4, 2021
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem diseaseGerarda Cappuccio, Camilla Ceccatelli Berti, Enrico Baruffini, et al.
The Lancet. Neurology|May 28, 2013
Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical studyChristel Depienne, Marianna Bugiani, Céline Dupuits, et al.
The Lancet. Neurology|February 15, 2020
Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational studyThaís Armangue, Gemma Olivé-Cirera, Eugenia Martínez-Hernandez, et al.
American Journal of Medical Genetics. Part A|June 24, 2020
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencingJohanna L Schmidt, Amy Pizzino, Jessica Nicholl, et al.
Journal of Medical Genetics|May 17, 2023
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in <i>POLR3A</i>, <i>POLR3B</i> and <i>POLR1C</i>Amytice Mirchi, Simon-Pierre Guay, Luan T Tran, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 9, 2025
Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencingCarlos A Dominguez Gonzalez, Nancy B Spinner, Rebecca C Ahrens-Nicklas, et al.
HGG Advances|July 20, 2025
Comprehensive genotype-phenotype analysis in POLR3-related disordersMackenzie A Michell-Robinson, Stefanie Perrier, Samuel Gauthier, et al.
Nature Communications|July 8, 2015
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase IIIIsabelle Thiffault, Nicole I Wolf, Diane Forget, et al.
Pageof 22

Showing results (161-170 of 217) with videos related to

Sort By:
Pageof 22
Molecular Genetics and Metabolism|February 17, 2015
Disease specific therapies in leukodystrophies and leukoencephalopathiesGuy Helman, Keith Van Haren, Joshua L Bonkowsky, et al.
Human Mutation|February 12, 2019
Cerebral hypomyelination associated with biallelic variants of FIG4Guy M Lenk, Ian R Berry, Chloe A Stutterd, et al.
Human Mutation|May 4, 2021
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem diseaseGerarda Cappuccio, Camilla Ceccatelli Berti, Enrico Baruffini, et al.
The Lancet. Neurology|May 28, 2013
Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical studyChristel Depienne, Marianna Bugiani, Céline Dupuits, et al.
The Lancet. Neurology|February 15, 2020
Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational studyThaís Armangue, Gemma Olivé-Cirera, Eugenia Martínez-Hernandez, et al.
American Journal of Medical Genetics. Part A|June 24, 2020
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencingJohanna L Schmidt, Amy Pizzino, Jessica Nicholl, et al.
Journal of Medical Genetics|May 17, 2023
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in <i>POLR3A</i>, <i>POLR3B</i> and <i>POLR1C</i>Amytice Mirchi, Simon-Pierre Guay, Luan T Tran, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 9, 2025
Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencingCarlos A Dominguez Gonzalez, Nancy B Spinner, Rebecca C Ahrens-Nicklas, et al.
HGG Advances|July 20, 2025
Comprehensive genotype-phenotype analysis in POLR3-related disordersMackenzie A Michell-Robinson, Stefanie Perrier, Samuel Gauthier, et al.
Nature Communications|July 8, 2015
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase IIIIsabelle Thiffault, Nicole I Wolf, Diane Forget, et al.
Pageof 22