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APOE epsilon4: a potential modulation factor in Rett syndrome.
Zahorakova D, Jachymova M, Kemlink D, Baxova A, Martasek P. Zahorakova D, et al. Among authors: kemlink d. J Child Neurol. 2010 May;25(5):546-50. doi: 10.1177/0883073809346848. Epub 2010 Feb 5. J Child Neurol. 2010. PMID: 20139413
Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease.
Schormair B, Kemlink D, Mollenhauer B, Fiala O, Machetanz G, Roth J, Berutti R, Strom TM, Haslinger B, Trenkwalder C, Zahorakova D, Martasek P, Ruzicka E, Winkelmann J. Schormair B, et al. Among authors: kemlink d. Clin Genet. 2018 Mar;93(3):603-612. doi: 10.1111/cge.13124. Epub 2018 Jan 24. Clin Genet. 2018. PMID: 28862745
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