Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP

CSF1R mutations cause autosomal-dominant CSF1R-related leukoencephalopathy with axonal spheroids and pigmented glia (CSF1R-ALSP) and autosomal-recessive brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS). The former is increasingly recognized, and disease-modifying therapy was i...

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Detalles Bibliográficos
Autores principales: Dulski, Jarosław, Souza, Josiane, Santos, Mara Lúcia, Wszolek, Zbigniew K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10288773/
https://www.ncbi.nlm.nih.gov/pubmed/37349768
http://dx.doi.org/10.1186/s13023-023-02772-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10288773/
https://www.ncbi.nlm.nih.gov/pubmed/37349768
http://dx.doi.org/10.1186/s13023-023-02772-9

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