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Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.
Dafsari HS, Sprute R, Wunderlich G, Daimagüler HS, Karaca E, Contreras A, Becker K, Schulze-Rhonhof M, Kiening K, Karakulak T, Kloss M, Horn A, Pauls A, Nürnberg P, Altmüller J, Thiele H, Assmann B, Koy A, Cirak S. Dafsari HS, et al. Among authors: sprute r. J Hum Genet. 2019 Aug;64(8):803-813. doi: 10.1038/s10038-019-0625-1. Epub 2019 Jun 5. J Hum Genet. 2019. PMID: 31165786
Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia.
Dafsari HS, Sprute R, Wunderlich G, Daimagüler HS, Karaca E, Contreras A, Becker K, Schulze-Rhonhof M, Kiening K, Karakulak T, Kloss M, Horn A, Pauls A, Nürnberg P, Altmüller J, Thiele H, Assmann B, Koy A, Cirak S. Dafsari HS, et al. Among authors: sprute r. J Hum Genet. 2019 Oct;64(10):1051-1054. doi: 10.1038/s10038-019-0644-y. J Hum Genet. 2019. PMID: 31388109
Novel mutations in SLC6A5 with benign course in hyperekplexia.
Dafsari HS, Kawalia A, Sprute R, Karakaya M, Malenica A, Herkenrath P, Nürnberg P, Motameny S, Thiele H, Cirak S. Dafsari HS, et al. Among authors: sprute r. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004465. doi: 10.1101/mcs.a004465. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31604777 Free PMC article.
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking.
Wang H, Kaçar Bayram A, Sprute R, Ozdemir O, Cooper E, Pergande M, Efthymiou S, Nedic I, Mazaheri N, Stumpfe K, Azizi Malamiri R, Shariati G, Zeighami J, Bayram N, Naghibzadeh SK, Tajik M, Yaşar M, Sami Güven A, Bibi F, Sultan T, Salpietro V, Houlden H, Per H, Galehdari H, Shalbafan B, Jamshidi Y, Cirak S. Wang H, et al. Among authors: sprute r. Front Neurosci. 2019 Oct 14;13:974. doi: 10.3389/fnins.2019.00974. eCollection 2019. Front Neurosci. 2019. PMID: 31680794 Free PMC article.
The mutational pattern of primary lymphoma of the central nervous system determined by whole-exome sequencing.
Vater I, Montesinos-Rongen M, Schlesner M, Haake A, Purschke F, Sprute R, Mettenmeyer N, Nazzal I, Nagel I, Gutwein J, Richter J, Buchhalter I, Russell RB, Wiestler OD, Eils R, Deckert M, Siebert R. Vater I, et al. Among authors: sprute r. Leukemia. 2015 Mar;29(3):677-85. doi: 10.1038/leu.2014.264. Epub 2014 Sep 5. Leukemia. 2015. PMID: 25189415
EHA Endorsement of the Global Guideline for the Diagnosis and Management of Rare Mold Infection: An Initiative of the European Confederation of Medical Mycology in Cooperation With International Society for Human and Animal Mycology and American Society for Microbiology.
Sprute R, Seidel D, Cornely OA, Hoenigl M. Sprute R, et al. Hemasphere. 2021 Feb 23;5(3):e519. doi: 10.1097/HS9.0000000000000519. eCollection 2021 Mar. Hemasphere. 2021. PMID: 33644696 Free PMC article. No abstract available.
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