Weber RG - Search Results

1

SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia.

Osmanovic A, Widjaja M, Förster A, Weder J, Wattjes MP, Lange I, Sarikidi A, Auber B, Raab P, Christians A, Preller M, Petri S, Weber RG. Osmanovic A, et al. Among authors: weber rg. J Neurol. 2020 Sep;267(9):2732-2743. doi: 10.1007/s00415-020-09861-w. Epub 2020 May 23. J Neurol. 2020. PMID: 32447552 Free PMC article.

2

FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study.

Osmanovic A, Rangnau I, Kosfeld A, Abdulla S, Janssen C, Auber B, Raab P, Preller M, Petri S, Weber RG. Osmanovic A, et al. Among authors: weber rg. Eur J Hum Genet. 2017 Feb;25(3):324-331. doi: 10.1038/ejhg.2016.186. Epub 2017 Jan 4. Eur J Hum Genet. 2017. PMID: 28051077 Free PMC article.

3

Rare ADAR and RNASEH2B variants and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis.

Beyer U, Brand F, Martens H, Weder J, Christians A, Elyan N, Hentschel B, Westphal M, Schackert G, Pietsch T, Hong B, Krauss JK, Samii A, Raab P, Das A, Dumitru CA, Sandalcioglu IE, Hakenberg OW, Erbersdobler A, Lehmann U, Reifenberger G, Weller M, Reijns MAM, Preller M, Wiese B, Hartmann C, Weber RG. Beyer U, et al. Among authors: weber rg. Acta Neuropathol. 2017 Dec;134(6):905-922. doi: 10.1007/s00401-017-1774-y. Epub 2017 Oct 13. Acta Neuropathol. 2017. PMID: 29030706 Free article.

4

FOCAD loss impacts microtubule assembly, G2/M progression and patient survival in astrocytic gliomas.

Brand F, Förster A, Christians A, Bucher M, Thomé CM, Raab MS, Westphal M, Pietsch T, von Deimling A, Reifenberger G, Claus P, Hentschel B, Weller M, Weber RG. Brand F, et al. Among authors: weber rg. Acta Neuropathol. 2020 Jan;139(1):175-192. doi: 10.1007/s00401-019-02067-z. Epub 2019 Aug 31. Acta Neuropathol. 2020. PMID: 31473790 Free article.

5

Inflammation-like changes in the urothelium of Lifr-deficient mice and LIFR-haploinsufficient humans with urinary tract anomalies.

Christians A, Weiss AC, Martens H, Klopf MG, Hennies I, Haffner D, Kispert A, Weber RG. Christians A, et al. Among authors: weber rg. Hum Mol Genet. 2020 May 8;29(7):1192-1204. doi: 10.1093/hmg/ddaa048. Hum Mol Genet. 2020. PMID: 32179912

6

Rare heterozygous GDF6 variants in patients with renal anomalies.

Martens H, Hennies I, Getwan M, Christians A, Weiss AC, Brand F, Gjerstad AC, Christians A, Gucev Z, Geffers R, Seeman T, Kispert A, Tasic V, Bjerre A, Lienkamp SS, Haffner D, Weber RG. Martens H, et al. Among authors: weber rg. Eur J Hum Genet. 2020 Dec;28(12):1681-1693. doi: 10.1038/s41431-020-0678-9. Epub 2020 Jul 31. Eur J Hum Genet. 2020. PMID: 32737436 Free PMC article.

7

Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin.

Förster A, Brand F, Banan R, Hüneburg R, Weber CAM, Ewert W, Kronenberg J, Previti C, Elyan N, Beyer U, Martens H, Hong B, Bräsen JH, Erbersdobler A, Krauss JK, Stangel M, Samii A, Wolf S, Preller M, Aretz S, Wiese B, Hartmann C, Weber RG. Förster A, et al. Among authors: weber rg. Acta Neuropathol. 2021 Jul;142(1):191-210. doi: 10.1007/s00401-021-02307-1. Epub 2021 Apr 30. Acta Neuropathol. 2021. PMID: 33929593 Free PMC article.

8

Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients.

Osmanovic A, Gogol I, Martens H, Widjaja M, Müller K, Schreiber-Katz O, Feuerhake F, Langhans CD, Schmidt G, Andersen PM, Ludolph AC, Weishaupt JH, Brand F, Petri S, Weber RG. Osmanovic A, et al. Among authors: weber rg. Genes (Basel). 2021 Dec 29;13(1):84. doi: 10.3390/genes13010084. Genes (Basel). 2021. PMID: 35052424 Free PMC article.

9

Sustained response to bevacizumab in a patient with mosaic neurofibromatosis type 2 carrying the NF2:c.784C>T p.(Arg262*) variant.

Basenach E, Förster A, Raab P, Alzein S, Schmidt G, Krauss JK, Schlegelberger B, Heidenreich F, Auber B, Hartmann C, Wiese B, Weber RG. Basenach E, et al. Among authors: weber rg. Clin Neuropathol. 2022 Jul-Aug;41(4):162-167. doi: 10.5414/NP301464. Clin Neuropathol. 2022. PMID: 35445657

10

A SUMO4 initiator codon variant in amyotrophic lateral sclerosis reduces SUMO4 expression and alters stress granule dynamics.

Osmanovic A, Förster A, Widjaja M, Auber B, Das AM, Christians A, Brand F, Petri S, Weber RG. Osmanovic A, et al. Among authors: weber rg. J Neurol. 2022 Sep;269(9):4863-4871. doi: 10.1007/s00415-022-11126-7. Epub 2022 May 3. J Neurol. 2022. PMID: 35503374 Free PMC article.

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