Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis

Leukodystrophies and genetic leukoencephalopathies are a heterogeneous group of heritable disorders that affect the glial-axonal unit. As more patients with unsolved leukodystrophies and genetic leukoencephalopathies undergo next generation sequencing, causative mutations in genes leading to central...

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Vydáno v:J Child Neurol
Hlavní autoři: Conant, Alexander, Curiel, Julian, Pizzino, Amy, Sabetrasekh, Parisa, Murphy, Jennifer, Bloom, Miriam, Evans, Sarah H., Helman, Guy, Taft, Ryan J., Simons, Cas, Whitehead, Matthew T., Moore, Steven A., Vanderver, Adeline
Médium: Artigo
Jazyk:Inglês
Vydáno: 2018
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6800098/
https://ncbi.nlm.nih.gov/pubmed/29882456
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0883073818776157
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