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Progressive Ataxia, Memory Impairments, and Seizure Episodes in Spna2 R1098Q Mouse Variant Affecting Alpha II Spectrin’s Scaffold Stability

SPTAN1 spectrinopathies refer to a group of rare, inherited diseases associated with damage to non-erythrocytic α-II spectrin (α-II). They are linked to a range of mild to severe neuropathologies of the central and peripheral nervous systems, such as early infantile epileptic encephalopathy type 5,...

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Detalles Bibliográficos
Autores principales: Zalas, Michał, Skrzymowska, Joanna, Miążek, Apolonia, Miazek, Arkadiusz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9953789/
https://www.ncbi.nlm.nih.gov/pubmed/36831804
http://dx.doi.org/10.3390/brainsci13020261