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Guy Helman

Showing results (31-40 of 61) with videos related to

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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.
Human Mutation|March 4, 2020
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoformGuy Helman, Asako Takanohashi, Tracy L Hagemann, et al.
Human Mutation|August 3, 2022
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoformGuy Helman, Asako Takanohashi, Tracy L Hagemann, et al.
Human Mutation|November 10, 2020
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10Guy Helman, Alison G Compton, Daniella H Hock, et al.
Brain : a Journal of Neurology|November 30, 2017
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophyCas Simons, David Dyment, Stephen J Bent, et al.
Human Molecular Genetics|May 2, 2020
De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairmentDebdeep Dutta, Lauren C Briere, Oguz Kanca, et al.
Neurology|August 3, 2014
TUBB4A de novo mutations cause isolated hypomyelinationAmy Pizzino, Tyler Mark Pierson, Yiran Guo, et al.
Molecular Genetics and Metabolism|February 5, 2015
Case definition and classification of leukodystrophies and leukoencephalopathiesAdeline Vanderver, Morgan Prust, Davide Tonduti, 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.
Molecular Genetics and Metabolism|July 26, 2017
Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spotsThais Armangue, Joseph J Orsini, Asako Takanohashi, et al.
Pageof 7

Showing results (31-40 of 61) with videos related to

Sort By:
Pageof 7
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.
Human Mutation|March 4, 2020
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoformGuy Helman, Asako Takanohashi, Tracy L Hagemann, et al.
Human Mutation|August 3, 2022
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoformGuy Helman, Asako Takanohashi, Tracy L Hagemann, et al.
Human Mutation|November 10, 2020
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10Guy Helman, Alison G Compton, Daniella H Hock, et al.
Brain : a Journal of Neurology|November 30, 2017
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophyCas Simons, David Dyment, Stephen J Bent, et al.
Human Molecular Genetics|May 2, 2020
De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairmentDebdeep Dutta, Lauren C Briere, Oguz Kanca, et al.
Neurology|August 3, 2014
TUBB4A de novo mutations cause isolated hypomyelinationAmy Pizzino, Tyler Mark Pierson, Yiran Guo, et al.
Molecular Genetics and Metabolism|February 5, 2015
Case definition and classification of leukodystrophies and leukoencephalopathiesAdeline Vanderver, Morgan Prust, Davide Tonduti, 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.
Molecular Genetics and Metabolism|July 26, 2017
Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spotsThais Armangue, Joseph J Orsini, Asako Takanohashi, et al.
Pageof 7