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[Neurological manifestations of ATTR amyloidosis].
Pernice HF, Hahn K. Pernice HF, et al. Inn Med (Heidelb). 2023 Sep;64(9):848-854. doi: 10.1007/s00108-023-01570-6. Epub 2023 Aug 9. Inn Med (Heidelb). 2023. PMID: 37555967 Review. German.
Digenic FLNA and UCHL1 variants resulting in a complex phenotype.
Pernice HF, O'Donnell LF, Rossor AM, Laura M, Record CJ, Skorupinska M, Blake J, Poh R, Polke J, Reilly MM. Pernice HF, et al. J Peripher Nerv Syst. 2024 Mar;29(1):111-115. doi: 10.1111/jns.12611. Epub 2024 Jan 7. J Peripher Nerv Syst. 2024. PMID: 38131667