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Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1.
Fellman V, Banerjee R, Lin KL, Pulli I, Cooper H, Tyynismaa H, Kallijärvi J. Fellman V, et al. Among authors: lin kl. Biochim Biophys Acta Mol Basis Dis. 2022 Jan 1;1868(1):166298. doi: 10.1016/j.bbadis.2021.166298. Epub 2021 Oct 28. Biochim Biophys Acta Mol Basis Dis. 2022. PMID: 34751152 Free article.
ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.
Cooper HM, Yang Y, Ylikallio E, Khairullin R, Woldegebriel R, Lin KL, Euro L, Palin E, Wolf A, Trokovic R, Isohanni P, Kaakkola S, Auranen M, Lönnqvist T, Wanrooij S, Tyynismaa H. Cooper HM, et al. Among authors: lin kl. Hum Mol Genet. 2017 Apr 15;26(8):1432-1443. doi: 10.1093/hmg/ddx042. Hum Mol Genet. 2017. PMID: 28158749 Free PMC article.
553 results