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SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Brain. 2023 Apr 19;146(4):1420-1435. doi: 10.1093/brain/awac460.
Brain. 2023.
PMID: 36718090
Free PMC article.
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, Fridman V, Muntoni F, Poh R, Polke JM, Zuchner S, Shy ME, Scherer SS, Reilly MM; Inherited Neuropathies Consortium—Rare Disease Clinical Research Network.
Record CJ, et al.
Brain. 2023 Oct 3;146(10):4336-4349. doi: 10.1093/brain/awad187.
Brain. 2023.
PMID: 37284795
Free PMC article.
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Chronic adaptations of lung function in breath-hold diving fishermen.
Diniz CM, Farias TL, Pereira MC, Pires CB, Gonçalves LS, Coertjens PC, Coertjens M.
Diniz CM, et al. Among authors: pires cb.
Int J Occup Med Environ Health. 2014 Apr;27(2):216-23. doi: 10.2478/s13382-014-0259-7. Epub 2014 Apr 3.
Int J Occup Med Environ Health. 2014.
PMID: 24700159
Free article.
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