Redefining the phenotype of ALSP and AARS2 mutation–related leukodystrophy

OBJECTIVE: To provide an overview of the phenotype of 2 clinically, radiologically, and pathologically similar leukodystrophies, adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and alanyl-transfer RNA synthetase 2 mutation–related leukodystrophy (AARS2-L), and highlig...

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Vydáno v:Neurol Genet
Hlavní autoři: Lakshmanan, Rahul, Adams, Matthew E., Lynch, David S., Kinsella, Justin A., Phadke, Rahul, Schott, Jonathan M., Murphy, Elaine, Rohrer, Jonathan D., Chataway, Jeremy, Houlden, Henry, Fox, Nick C., Davagnanam, Indran
Médium: Artigo
Jazyk:Inglês
Vydáno: Wolters Kluwer 2017
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5312114/
https://ncbi.nlm.nih.gov/pubmed/28243630
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000135
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