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Multisystem proteinopathies (MSPs) and MSP‐like disorders: Clinical‐pathological‐molecular spectrum

OBJECTIVES: Mutations in VCP, HNRNPA2B1, HNRNPA1, and SQSTM1, encoding RNA‐binding proteins or proteins in quality‐control pathways, cause multisystem proteinopathies (MSP). They share pathological findings of protein aggregation and clinical combinations of inclusion body myopathy (IBM), neurodegen...

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Detalles Bibliográficos
Autores principales: Chompoopong, Pitcha, Oskarsson, Björn, Madigan, Nicolas N., Mirman, Igal, Martinez‐Thompson, Jennifer M., Liewluck, Teerin, Milone, Margherita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10109322/
https://www.ncbi.nlm.nih.gov/pubmed/36861178
http://dx.doi.org/10.1002/acn3.51751