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A novel SLC30A10 missense variant associated with parkinsonism and dystonia without hypermanganesemia.
Lambrianides S, Nicolaou P, Michaelidou M, Kakouris P, Votsi C, Petrou PP, Drousiotou A, Minaidou A, Demetriou P, Voulgaris C, Christodoulou K, Tanteles GA, Pantzaris M. Lambrianides S, et al. Among authors: petrou pp. J Neurol Sci. 2020 Nov 15;418:117101. doi: 10.1016/j.jns.2020.117101. Epub 2020 Aug 18. J Neurol Sci. 2020. PMID: 32866815 No abstract available.
A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities.
Papachristoforou R, Petrou PP, Sawyer H, Williams M, Drousiotou A. Papachristoforou R, et al. Among authors: petrou pp. JIMD Rep. 2014;12:91-8. doi: 10.1007/8904_2013_249. Epub 2013 Sep 4. JIMD Rep. 2014. PMID: 24002815 Free PMC article.
21 results