Pontine autosomal dominant microangiopathy with leukoencephalopathy: Col4A1 gene variants in the original family and sporadic stroke

BACKGROUND: (1) Description of clinical and cranial MRI features in the original Pontine Autosomal Dominant Microangiopathy with Leukoencephalopathy (PADMAL) family and correlation with the segregation analysis of the causative collagen 4A1 gene (COL4A1) variant. (2) Sequence analysis of the COL4A1...

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Detalles Bibliográficos
Autores principales: Roos, Jessica, Müller, Stefanie, Giese, Anne, Appenzeller, Silke, Ringelstein, Erich Bernd, Fiehler, Jens, Berger, Klaus, Rolfs, Arndt, Hagel, Christian, Kuhlenbäumer, Gregor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10130117/
https://www.ncbi.nlm.nih.gov/pubmed/36786861
http://dx.doi.org/10.1007/s00415-023-11590-9

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