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Amy Pizzino

Showing results (21-30 of 42) with videos related to

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Molecular Genetics and Metabolism|March 24, 2024
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approachLaura Ann Adang, Anjana Sevagamoorthy, Omar Sherbini, et al.
The New England Journal of Medicine|September 3, 2020
Janus Kinase Inhibition in the Aicardi-Goutières SyndromeAdeline Vanderver, Laura Adang, Francesco Gavazzi, et al.
Pediatric Neurology|June 4, 2018
Health-Related Quality of Life for Patients With Genetically Determined LeukoencephalopathyAmytice Mirchi, Félixe Pelletier, Luan T Tran, et al.
Molecular Genetics and Metabolism|February 17, 2015
Disease specific therapies in leukodystrophies and leukoencephalopathiesGuy Helman, Keith Van Haren, Joshua L Bonkowsky, 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.
Annals of the Child Neurology Society|August 26, 2025
Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite StudyEmma R Kotes, Sarah Woidill, Russell D'Aiello, et al.
Neurogenetics|August 27, 2017
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, et al.
Annals of Neurology|May 10, 2016
Whole exome sequencing in patients with white matter abnormalitiesAdeline Vanderver, Cas Simons, Guy Helman, et al.
Annals of Neurology|April 29, 2020
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter DisordersAdeline Vanderver, Geneviève Bernard, Guy Helman, et al.
Annals of Clinical and Translational Neurology|January 9, 2020
Genome sequencing in persistently unsolved white matter disordersGuy Helman, Bryan R Lajoie, Joanna Crawford, et al.
Pageof 5

Showing results (21-30 of 42) with videos related to

Sort By:
Pageof 5
Molecular Genetics and Metabolism|March 24, 2024
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approachLaura Ann Adang, Anjana Sevagamoorthy, Omar Sherbini, et al.
The New England Journal of Medicine|September 3, 2020
Janus Kinase Inhibition in the Aicardi-Goutières SyndromeAdeline Vanderver, Laura Adang, Francesco Gavazzi, et al.
Pediatric Neurology|June 4, 2018
Health-Related Quality of Life for Patients With Genetically Determined LeukoencephalopathyAmytice Mirchi, Félixe Pelletier, Luan T Tran, et al.
Molecular Genetics and Metabolism|February 17, 2015
Disease specific therapies in leukodystrophies and leukoencephalopathiesGuy Helman, Keith Van Haren, Joshua L Bonkowsky, 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.
Annals of the Child Neurology Society|August 26, 2025
Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite StudyEmma R Kotes, Sarah Woidill, Russell D'Aiello, et al.
Neurogenetics|August 27, 2017
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, et al.
Annals of Neurology|May 10, 2016
Whole exome sequencing in patients with white matter abnormalitiesAdeline Vanderver, Cas Simons, Guy Helman, et al.
Annals of Neurology|April 29, 2020
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter DisordersAdeline Vanderver, Geneviève Bernard, Guy Helman, et al.
Annals of Clinical and Translational Neurology|January 9, 2020
Genome sequencing in persistently unsolved white matter disordersGuy Helman, Bryan R Lajoie, Joanna Crawford, et al.
Pageof 5