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A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene.
Jensen LR, Garrett L, Hölter SM, Rathkolb B, Rácz I, Adler T, Prehn C, Hans W, Rozman J, Becker L, Aguilar-Pimentel JA, Puk O, Moreth K, Dopatka M, Walther DJ, von Bohlen Und Halbach V, Rath M, Delatycki M, Bert B, Fink H, Blümlein K, Ralser M, Van Dijck A, Kooy F, Stark Z, Müller S, Scherthan H, Gecz J, Wurst W, Wolf E, Zimmer A, Klingenspor M, Graw J, Klopstock T, Busch D, Adamski J, Fuchs H, Gailus-Durner V, de Angelis MH, von Bohlen Und Halbach O, Ropers HH, Kuss AW. Jensen LR, et al. Among authors: rath m. Biochim Biophys Acta Mol Basis Dis. 2019 Sep 1;1865(9):2083-2093. doi: 10.1016/j.bbadis.2018.12.011. Epub 2018 Dec 14. Biochim Biophys Acta Mol Basis Dis. 2019. PMID: 30557699 Free article.
FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations.
Spiegler S, Kirchmaier B, Rath M, Korenke GC, Tetzlaff F, van de Vorst M, Neveling K, Acker-Palmer A, Kuss AW, Gilissen C, Fischer A, Schulte-Merker S, Felbor U. Spiegler S, et al. Among authors: rath m. Mol Syndromol. 2016 Jul;7(3):144-52. doi: 10.1159/000446884. Epub 2016 Jun 18. Mol Syndromol. 2016. PMID: 27587990 Free PMC article.
Diagnostic Single Gene Analyses Beyond Sanger.
Najm J, Rath M, Schröder W, Felbor U. Najm J, et al. Among authors: rath m. Hamostaseologie. 2018 Aug;38(3):158-165. doi: 10.5482/HAMO-17-01-0008. Epub 2018 Sep 27. Hamostaseologie. 2018. PMID: 30261521
Correlation of the venous angioarchitecture of multiple cerebral cavernous malformations with familial or sporadic disease: a susceptibility-weighted imaging study with 7-Tesla MRI.
Dammann P, Wrede K, Zhu Y, Matsushige T, Maderwald S, Umutlu L, Quick HH, Hehr U, Rath M, Ladd ME, Felbor U, Sure U. Dammann P, et al. Among authors: rath m. J Neurosurg. 2017 Feb;126(2):570-577. doi: 10.3171/2016.2.JNS152322. Epub 2016 May 6. J Neurosurg. 2017. PMID: 27153162
510 results