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Amy Pizzino

Showing results (1-10 of 42) with videos related to

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Journal of Genetic Counseling|April 30, 2014
Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical reportJessica E King, Amy Dexter, Inder Gadi, et al.
Annals of Clinical and Translational Neurology|January 9, 2026
Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander DiseaseAmy T Waldman, Asako Takanohashi, Joshua Y Joung, et al.
Neuropediatrics|January 13, 2022
Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 VariantsMenno D Stellingwerff, Corinne Nulton, Guy Helman, et al.
Molecular Genetics and Metabolism|January 12, 2015
Consensus statement on preventive and symptomatic care of leukodystrophy patientsKeith Van Haren, Joshua L Bonkowsky, Genevieve Bernard, et al.
Journal of Child Neurology|June 9, 2018
Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and ArthrogryposisAlexander Conant, Julian Curiel, Amy Pizzino, et al.
Neurology|December 21, 2014
DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorderNicole I Wolf, Camilo Toro, Ilya Kister, et al.
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.
Orphanet Journal of Rare Diseases|April 29, 2026
Rigorous genetic diagnosis review in natural history studiesAmy Pizzino, Kaley Arnold, Emma Wiener, et al.
Molecular Genetics and Metabolism|February 7, 2015
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathiesSumit Parikh, Geneviève Bernard, Richard J Leventer, et al.
Pageof 5

Showing results (1-10 of 42) with videos related to

Sort By:
Pageof 5
Journal of Genetic Counseling|April 30, 2014
Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical reportJessica E King, Amy Dexter, Inder Gadi, et al.
Annals of Clinical and Translational Neurology|January 9, 2026
Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander DiseaseAmy T Waldman, Asako Takanohashi, Joshua Y Joung, et al.
Neuropediatrics|January 13, 2022
Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 VariantsMenno D Stellingwerff, Corinne Nulton, Guy Helman, et al.
Molecular Genetics and Metabolism|January 12, 2015
Consensus statement on preventive and symptomatic care of leukodystrophy patientsKeith Van Haren, Joshua L Bonkowsky, Genevieve Bernard, et al.
Journal of Child Neurology|June 9, 2018
Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and ArthrogryposisAlexander Conant, Julian Curiel, Amy Pizzino, et al.
Neurology|December 21, 2014
DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorderNicole I Wolf, Camilo Toro, Ilya Kister, et al.
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.
Orphanet Journal of Rare Diseases|April 29, 2026
Rigorous genetic diagnosis review in natural history studiesAmy Pizzino, Kaley Arnold, Emma Wiener, et al.
Molecular Genetics and Metabolism|February 7, 2015
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathiesSumit Parikh, Geneviève Bernard, Richard J Leventer, et al.
Pageof 5