An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids

Swedish type Hereditary Diffuse Leukoencephalopathy with Spheroids (HDLS-S) is a severe adult-onset leukoencephalopathy with the histopathological hallmark of neuraxonal degeneration with spheroids, described in a large family with a dominant inheritance pattern. The initial stage of the disease is...

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Detalles Bibliográficos
Autores principales: Sundal, Christina, Carmona, Susana, Yhr, Maria, Almström, Odd, Ljungberg, Maria, Hardy, John, Hedberg-Oldfors, Carola, Fred, Åsa, Brás, José, Oldfors, Anders, Andersen, Oluf, Guerreiro, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6880494/
https://www.ncbi.nlm.nih.gov/pubmed/31775912
http://dx.doi.org/10.1186/s40478-019-0843-y

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