Rath M - Search Results

1

Postzygotic mosaicism in cerebral cavernous malformation.

Rath M, Pagenstecher A, Hoischen A, Felbor U. Rath M, et al. J Med Genet. 2020 Mar;57(3):212-216. doi: 10.1136/jmedgenet-2019-106182. Epub 2019 Aug 24. J Med Genet. 2020. PMID: 31446422 Free PMC article.

2

High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations.

Rath M, Jenssen SE, Schwefel K, Spiegler S, Kleimeier D, Sperling C, Kaderali L, Felbor U. Rath M, et al. Eur J Med Genet. 2017 Sep;60(9):479-484. doi: 10.1016/j.ejmg.2017.06.007. Epub 2017 Jun 20. Eur J Med Genet. 2017. PMID: 28645800

3

First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing.

Spiegler S, Rath M, Hoffjan S, Dammann P, Sure U, Pagenstecher A, Strom T, Felbor U. Spiegler S, et al. Among authors: rath m. Neurogenetics. 2018 Jan;19(1):55-59. doi: 10.1007/s10048-017-0531-7. Epub 2017 Dec 2. Neurogenetics. 2018. PMID: 29197946

4

Precise CCM1 gene correction and inactivation in patient-derived endothelial cells: Modeling Knudson's two-hit hypothesis in vitro.

Spiegler S, Rath M, Much CD, Sendtner BS, Felbor U. Spiegler S, et al. Among authors: rath m. Mol Genet Genomic Med. 2019 Jul;7(7):e00755. doi: 10.1002/mgg3.755. Epub 2019 May 23. Mol Genet Genomic Med. 2019. PMID: 31124307 Free PMC article.

5

First interchromosomal insertion in a patient with cerebral and spinal cavernous malformations.

Pilz RA, Schwefel K, Weise A, Liehr T, Demmer P, Spuler A, Spiegler S, Gilberg E, Hübner CA, Felbor U, Rath M. Pilz RA, et al. Among authors: rath m. Sci Rep. 2020 Apr 14;10(1):6306. doi: 10.1038/s41598-020-63337-5. Sci Rep. 2020. PMID: 32286434 Free PMC article.

6

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

7

Highly variable intrafamilial manifestations of a CCM3 mutation ranging from acute childhood cerebral haemorrhage to late-onset meningiomas.

Fauth C, Rostasy K, Rath M, Gizewski E, Lederer AG, Sure U, Zschocke J, Felbor U. Fauth C, et al. Among authors: rath m. Clin Neurol Neurosurg. 2015 Jan;128:41-3. doi: 10.1016/j.clineuro.2014.10.023. Epub 2014 Nov 6. Clin Neurol Neurosurg. 2015. PMID: 25462093 No abstract available.

8

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations.

Rath M, Spiegler S, Nath N, Schwefel K, Di Donato N, Gerber J, Korenke GC, Hellenbroich Y, Hehr U, Gross S, Sure U, Zoll B, Gilberg E, Kaderali L, Felbor U. Rath M, et al. Mol Genet Genomic Med. 2016 Dec 20;5(1):21-27. doi: 10.1002/mgg3.256. eCollection 2017 Jan. Mol Genet Genomic Med. 2016. PMID: 28116327 Free PMC article.

9

Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling.

Spiegler S, Rath M, Paperlein C, Felbor U. Spiegler S, et al. Among authors: rath m. Mol Syndromol. 2018 Feb;9(2):60-69. doi: 10.1159/000486292. Epub 2018 Jan 25. Mol Syndromol. 2018. PMID: 29593473 Free PMC article. Review.

10

Biallelic CCM3 mutations cause a clonogenic survival advantage and endothelial cell stiffening.

Schwefel K, Spiegler S, Ameling S, Much CD, Pilz RA, Otto O, Völker U, Felbor U, Rath M. Schwefel K, et al. Among authors: rath m. J Cell Mol Med. 2019 Mar;23(3):1771-1783. doi: 10.1111/jcmm.14075. Epub 2018 Dec 13. J Cell Mol Med. 2019. PMID: 30549232 Free PMC article.

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