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The Alazami Syndrome-Associated Protein LARP7 Guides U6 Small Nuclear RNA Modification and Contributes to Splicing Robustness.
Hasler D, Meduri R, Bąk M, Lehmann G, Heizinger L, Wang X, Li ZT, Sement FM, Bruckmann A, Dock-Bregeon AC, Merkl R, Kalb R, Grauer E, Kunstmann E, Zavolan M, Liu MF, Fischer U, Meister G. Hasler D, et al. Among authors: kunstmann e. Mol Cell. 2020 Mar 5;77(5):1014-1031.e13. doi: 10.1016/j.molcel.2020.01.001. Epub 2020 Feb 3. Mol Cell. 2020. PMID: 32017898 Free article.
A case report of Sanfilippo syndrome - the long way to diagnosis.
Lorenz D, Musacchio T, Kunstmann E, Grauer E, Pluta N, Stock A, Speer CP, Hebestreit H. Lorenz D, et al. Among authors: kunstmann e. BMC Neurol. 2022 Mar 15;22(1):93. doi: 10.1186/s12883-022-02611-7. BMC Neurol. 2022. PMID: 35291973 Free PMC article.
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
Mencacci NE, Isaias IU, Reich MM, Ganos C, Plagnol V, Polke JM, Bras J, Hersheson J, Stamelou M, Pittman AM, Noyce AJ, Mok KY, Opladen T, Kunstmann E, Hodecker S, Münchau A, Volkmann J, Samnick S, Sidle K, Nanji T, Sweeney MG, Houlden H, Batla A, Zecchinelli AL, Pezzoli G, Marotta G, Lees A, Alegria P, Krack P, Cormier-Dequaire F, Lesage S, Brice A, Heutink P, Gasser T, Lubbe SJ, Morris HR, Taba P, Koks S, Majounie E, Raphael Gibbs J, Singleton A, Hardy J, Klebe S, Bhatia KP, Wood NW; International Parkinson’s Disease Genomics Consortium and UCL-exomes consortium. Mencacci NE, et al. Among authors: kunstmann e. Brain. 2014 Sep;137(Pt 9):2480-92. doi: 10.1093/brain/awu179. Epub 2014 Jul 2. Brain. 2014. PMID: 24993959 Free PMC article.
Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium.
Goecke T, Schulmann K, Engel C, Holinski-Feder E, Pagenstecher C, Schackert HK, Kloor M, Kunstmann E, Vogelsang H, Keller G, Dietmaier W, Mangold E, Friedrichs N, Propping P, Krüger S, Gebert J, Schmiegel W, Rueschoff J, Loeffler M, Moeslein G; German HNPCC Consortium. Goecke T, et al. Among authors: kunstmann e. J Clin Oncol. 2006 Sep 10;24(26):4285-92. doi: 10.1200/JCO.2005.03.7333. Epub 2006 Aug 14. J Clin Oncol. 2006. PMID: 16908935
Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder.
Andres O, König EM, Althaus K, Bakchoul T, Bugert P, Eber S, Knöfler R, Kunstmann E, Manukjan G, Meyer O, Strauß G, Streif W, Thiele T, Wiegering V, Klopocki E, Schulze H; THROMKIDplus Study Group of the Society of Paediatric Oncology Haematology (Gesellschaft für Pädiatrische Onkologie und Hämatologie, GPOH) and the Society of Thrombosis Haemostasis Research (Gesellschaft für Thrombose- und Hämostaseforschung, GTH). Andres O, et al. Among authors: kunstmann e. TH Open. 2018 Dec 30;2(4):e445-e454. doi: 10.1055/s-0038-1676813. eCollection 2018 Oct. TH Open. 2018. PMID: 31249973 Free PMC article.
60 results