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Evaluating the role of TMEM230 variants in Parkinson's disease.
Baumann H, Wolff S, Münchau A, Hagenah JM, Lohmann K, Klein C. Baumann H, et al. Parkinsonism Relat Disord. 2017 Feb;35:100-101. doi: 10.1016/j.parkreldis.2016.12.015. Epub 2016 Dec 20. Parkinsonism Relat Disord. 2017. PMID: 28017548 No abstract available.
Utility and implications of exome sequencing in early-onset Parkinson's disease.
Trinh J, Lohmann K, Baumann H, Balck A, Borsche M, Brüggemann N, Dure L, Dean M, Volkmann J, Tunc S, Prasuhn J, Pawlack H, Imhoff S, Lill CM, Kasten M, Bauer P, Rolfs A; International Parkinson's Disease Genomics Consortium (IPDGC); Klein C. Trinh J, et al. Among authors: baumann h. Mov Disord. 2019 Jan;34(1):133-137. doi: 10.1002/mds.27559. Epub 2018 Dec 10. Mov Disord. 2019. PMID: 30537300 Free PMC article.
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.
Lohmann K, Masuho I, Patil DN, Baumann H, Hebert E, Steinrücke S, Trujillano D, Skamangas NK, Dobricic V, Hüning I, Gillessen-Kaesbach G, Westenberger A, Savic-Pavicevic D, Münchau A, Oprea G, Klein C, Rolfs A, Martemyanov KA. Lohmann K, et al. Among authors: baumann h. Hum Mol Genet. 2017 Mar 15;26(6):1078-1086. doi: 10.1093/hmg/ddx018. Hum Mol Genet. 2017. PMID: 28087732 Free PMC article.
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.
Dulovic-Mahlow M, Trinh J, Kandaswamy KK, Braathen GJ, Di Donato N, Rahikkala E, Beblo S, Werber M, Krajka V, Busk ØL, Baumann H, Al-Sannaa NA, Hinrichs F, Affan R, Navot N, Al Balwi MA, Oprea G, Holla ØL, Weiss MER, Jamra RA, Kahlert AK, Kishore S, Tveten K, Vos M, Rolfs A, Lohmann K. Dulovic-Mahlow M, et al. Among authors: baumann h. Am J Hum Genet. 2019 Jul 3;105(1):213-220. doi: 10.1016/j.ajhg.2019.05.005. Epub 2019 Jun 20. Am J Hum Genet. 2019. PMID: 31230721 Free PMC article.
635 results