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4 Musculoskeletal disability In our cohort we observed significant variability in the severity of musculoskeletal symptoms and their effect on day-to-day function between the different probands and even within the same family

Role of different alpha-synuclein strains in synucleinopathies, similarities with other neurodegenerative diseases

In addition to hereditary hemoglobinopathies, aberrant Gardos channel activity has been associated with storage lesions, wherein increased intracellular Ca 2+ concentrations progressively activate the channel, leading to cellular shrinkage and diminished deformability under extended refrigeration (11, 36)

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doi: 10.1016/s1053-0770(03)00053-3 [DOI] [PubMed] [Google Scholar] 71.Jepsen S, Klaerke A, Nielsen PH, et al

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