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Adeline Vanderver

Showing results (81-90 of 217) with videos related to

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Journal of Medical Genetics|November 2, 2016
ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolismSacha Ferdinandusse, Kim D Falkenberg, Janet Koster, et al.
American Journal of Medical Genetics. Part A|April 27, 2018
Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathyAmy Pizzino, Matthew Whitehead, Parisa Sabet Rasekh, et al.
Journal of Child Neurology|September 28, 2019
Developmental Outcomes of Aicardi Goutières SyndromeLaura Adang, Francesco Gavazzi, Micaela De Simone, et al.
Brain : a Journal of Neurology|October 1, 2010
Magnetic resonance imaging pattern recognition in hypomyelinating disordersMarjan E Steenweg, Adeline Vanderver, Susan Blaser, et al.
Journal of Medical Genetics|January 29, 2013
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadismHussein Daoud, Martine Tétreault, William Gibson, et al.
Journal of Child Neurology|July 19, 2012
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent featuresDavide Tonduti, Adeline Vanderver, Angela Berardinelli, et al.
Pediatric Neurology|December 11, 2020
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical FeaturesCara Piccoli, Nowa Bronner, Francesco Gavazzi, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|January 22, 2026
Therapeutic suppression of Tubb4a rescues H-ABC leukodystrophySunetra Sase, Julia L Hacker, Prabhat R Napit, et al.
Molecular Genetics and Metabolism|April 15, 2022
Corrigendum to "Development of a neurologic severity scale for Aicardi Goutières Syndrome" [Mol Genet Metab. 2020 Jun;130(2):153-160. PMID: 32279991]Laura A Adang, Francesco Gavazzi, Abbas F Jawad, et al.
Molecular Genetics and Metabolism|April 14, 2020
Development of a neurologic severity scale for Aicardi Goutières SyndromeLaura A Adang, Francesco Gavazzi, Abbas F Jawad, et al.
Pageof 22

Showing results (81-90 of 217) with videos related to

Sort By:
Pageof 22
Journal of Medical Genetics|November 2, 2016
ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolismSacha Ferdinandusse, Kim D Falkenberg, Janet Koster, et al.
American Journal of Medical Genetics. Part A|April 27, 2018
Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathyAmy Pizzino, Matthew Whitehead, Parisa Sabet Rasekh, et al.
Journal of Child Neurology|September 28, 2019
Developmental Outcomes of Aicardi Goutières SyndromeLaura Adang, Francesco Gavazzi, Micaela De Simone, et al.
Brain : a Journal of Neurology|October 1, 2010
Magnetic resonance imaging pattern recognition in hypomyelinating disordersMarjan E Steenweg, Adeline Vanderver, Susan Blaser, et al.
Journal of Medical Genetics|January 29, 2013
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadismHussein Daoud, Martine Tétreault, William Gibson, et al.
Journal of Child Neurology|July 19, 2012
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent featuresDavide Tonduti, Adeline Vanderver, Angela Berardinelli, et al.
Pediatric Neurology|December 11, 2020
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical FeaturesCara Piccoli, Nowa Bronner, Francesco Gavazzi, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|January 22, 2026
Therapeutic suppression of Tubb4a rescues H-ABC leukodystrophySunetra Sase, Julia L Hacker, Prabhat R Napit, et al.
Molecular Genetics and Metabolism|April 15, 2022
Corrigendum to "Development of a neurologic severity scale for Aicardi Goutières Syndrome" [Mol Genet Metab. 2020 Jun;130(2):153-160. PMID: 32279991]Laura A Adang, Francesco Gavazzi, Abbas F Jawad, et al.
Molecular Genetics and Metabolism|April 14, 2020
Development of a neurologic severity scale for Aicardi Goutières SyndromeLaura A Adang, Francesco Gavazzi, Abbas F Jawad, et al.
Pageof 22