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Amy Pizzino

Showing results (11-20 of 42) with videos related to

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American Journal of Medical Genetics. Part A|July 20, 2024
Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypesTomoki T Nomakuchi, Eden Y Teferedegn, Dong Li, et al.
Molecular Genetics and Metabolism|September 27, 2024
Systemic complications of Aicardi Goutières syndrome using real-world dataIsabella Peixoto de Barcelos, Amanda K Jan, Nicholson Modesti, et al.
Neurology|August 3, 2014
TUBB4A de novo mutations cause isolated hypomyelinationAmy Pizzino, Tyler Mark Pierson, Yiran Guo, et al.
Pediatric Neurology|June 10, 2021
Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating LeukodystrophyGuy Helman, Ayelet Zerem, Akshata Almad, et al.
Pediatric Neurology|May 11, 2020
Phenotypic and Imaging Spectrum Associated With WDR45Laura A Adang, Amy Pizzino, Alka Malhotra, et al.
Molecular Genetics and Metabolism|May 23, 2026
Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD)Anjana Sevagamoorthy, Sarah Woidill, Gabrielle Sudilovsky, et al.
Pediatric Neurology|November 16, 2016
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus InfectionNicole Ulrick, Amy Goldstein, Cas Simons, et al.
Neurology|October 24, 2014
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutationsNicole I Wolf, Adeline Vanderver, Rosalina M L van Spaendonk, et al.
American Journal of Human Genetics|March 31, 2015
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defectCas Simons, Laurie B Griffin, Guy Helman, et al.
HGG Advances|October 1, 2025
Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorderBrianna L DiSanza, Giulia S Porcari, Livia Sertori Finoti, et al.
Pageof 5

Showing results (11-20 of 42) with videos related to

Sort By:
Pageof 5
American Journal of Medical Genetics. Part A|July 20, 2024
Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypesTomoki T Nomakuchi, Eden Y Teferedegn, Dong Li, et al.
Molecular Genetics and Metabolism|September 27, 2024
Systemic complications of Aicardi Goutières syndrome using real-world dataIsabella Peixoto de Barcelos, Amanda K Jan, Nicholson Modesti, et al.
Neurology|August 3, 2014
TUBB4A de novo mutations cause isolated hypomyelinationAmy Pizzino, Tyler Mark Pierson, Yiran Guo, et al.
Pediatric Neurology|June 10, 2021
Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating LeukodystrophyGuy Helman, Ayelet Zerem, Akshata Almad, et al.
Pediatric Neurology|May 11, 2020
Phenotypic and Imaging Spectrum Associated With WDR45Laura A Adang, Amy Pizzino, Alka Malhotra, et al.
Molecular Genetics and Metabolism|May 23, 2026
Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD)Anjana Sevagamoorthy, Sarah Woidill, Gabrielle Sudilovsky, et al.
Pediatric Neurology|November 16, 2016
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus InfectionNicole Ulrick, Amy Goldstein, Cas Simons, et al.
Neurology|October 24, 2014
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutationsNicole I Wolf, Adeline Vanderver, Rosalina M L van Spaendonk, et al.
American Journal of Human Genetics|March 31, 2015
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defectCas Simons, Laurie B Griffin, Guy Helman, et al.
HGG Advances|October 1, 2025
Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorderBrianna L DiSanza, Giulia S Porcari, Livia Sertori Finoti, et al.
Pageof 5