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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...
Autores principales: | Chompoopong, Pitcha, Oskarsson, Björn, Madigan, Nicolas N., Mirman, Igal, Martinez‐Thompson, Jennifer M., Liewluck, Teerin, Milone, Margherita |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
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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 |
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