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Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease.
Hoffman-Zacharska D, Koziorowski D, Ross OA, Milewski M, Poznanski JA, Jurek M, Wszolek ZK, Soto-Ortolaza A, Awek JAS, Janik P, Jamrozik Z, Potulska-Chromik A, Jasinska-Myga B, Opala G, Krygowska-Wajs A, Czyzewski K, Dickson DW, Bal J, Friedman A. Hoffman-Zacharska D, et al. Among authors: bal j. Parkinsonism Relat Disord. 2013 Nov;19(11):1057-1060. doi: 10.1016/j.parkreldis.2013.07.011. Epub 2013 Aug 2. Parkinsonism Relat Disord. 2013. PMID: 23916651 Free PMC article.
Expanding the phenotype associated with missense mutations of the ARX gene.
Charzewska A, Nawara M, Jakubiuk-Tomaszuk A, Obersztyn E, Hoffman-Zacharska D, Elert E, Jurek M, Bartnik M, Poznański J, Bal J. Charzewska A, et al. Among authors: bal j. Am J Med Genet A. 2013 Jul;161A(7):1813-6. doi: 10.1002/ajmg.a.36003. Epub 2013 May 8. Am J Med Genet A. 2013. PMID: 23657928 No abstract available.
235 results