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Guy Helman

Showing results (21-30 of 61) with videos related to

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Molecular Genetics and Metabolism|October 27, 2016
Corrigendum to "GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease" [Mol. Genet. Metab. 111 (2014) 393-398]Leo Gotoh, Ken Inoue, Guy Helman, et al.
Neurology|January 13, 2019
Leukoencephalopathy due to variants in <i>GFPT1-</i>associated congenital myasthenic syndromeGuy Helman, Suvasini Sharma, Joanna Crawford, 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.
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.
Annals of Neurology|December 9, 2015
Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathyGuy Helman, Ljubica Caldovic, Matthew T Whitehead, et al.
Journal of Child Neurology|December 24, 2014
Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern RecognitionAdeline Vanderver, Morgan Prust, Nadja Kadom, et al.
Frontiers in Genetics|March 15, 2024
Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literatureEmma M J Passchier, Quinty Bisseling, Guy Helman, et al.
Molecular Genetics and Metabolism|September 17, 2018
Aicardi goutières syndrome is associated with pulmonary hypertensionLaura A Adang, David B Frank, Ahmed Gilani, et al.
Human Molecular Genetics|October 4, 2017
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypesJulian Curiel, Guillermo Rodríguez Bey, Asako Takanohashi, et al.
Molecular Genetics and Metabolism|November 5, 2022
SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières SyndromeAsako Takanohashi, Mohamad-Gabriel Alameh, Sarah Woidill, et al.
Pageof 7

Showing results (21-30 of 61) with videos related to

Sort By:
Pageof 7
Molecular Genetics and Metabolism|October 27, 2016
Corrigendum to "GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease" [Mol. Genet. Metab. 111 (2014) 393-398]Leo Gotoh, Ken Inoue, Guy Helman, et al.
Neurology|January 13, 2019
Leukoencephalopathy due to variants in <i>GFPT1-</i>associated congenital myasthenic syndromeGuy Helman, Suvasini Sharma, Joanna Crawford, 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.
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.
Annals of Neurology|December 9, 2015
Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathyGuy Helman, Ljubica Caldovic, Matthew T Whitehead, et al.
Journal of Child Neurology|December 24, 2014
Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern RecognitionAdeline Vanderver, Morgan Prust, Nadja Kadom, et al.
Frontiers in Genetics|March 15, 2024
Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literatureEmma M J Passchier, Quinty Bisseling, Guy Helman, et al.
Molecular Genetics and Metabolism|September 17, 2018
Aicardi goutières syndrome is associated with pulmonary hypertensionLaura A Adang, David B Frank, Ahmed Gilani, et al.
Human Molecular Genetics|October 4, 2017
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypesJulian Curiel, Guillermo Rodríguez Bey, Asako Takanohashi, et al.
Molecular Genetics and Metabolism|November 5, 2022
SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières SyndromeAsako Takanohashi, Mohamad-Gabriel Alameh, Sarah Woidill, et al.
Pageof 7