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Early onset epileptic encephalopathy and deficient myelination as a result of autosomal recessive mutations in the AARS gene (S22.007)

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Year: 2015
Type: article
Study design: Case Report
Source: Neurology
DOI: 10.1212/wnl.84.14_supplement.s22.007
Authors: Guy Helman, Cas Simons, Laurie Griffin, Amy Pizzino, Miriam Bloom, Ryan Taft, Anthony Antonellis, Ya Ming Hou, Adeline Vanderver
Institutions: Children's National, The University of Queensland, Institute for Molecular Bioscience, University of Michigan, Michigan Medicine, Illumina (United States), Thomas Jefferson University
Language: English

Topic: RNA and protein synthesis mechanisms
Subfield: Molecular Biology
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed
OpenAlex ID: W1007104218
FWCI:
Cites:
Cited by:
Related to: 10
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