Auber B - 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: auber b. 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: auber b. 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 compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia-oculomotor apraxia 4 and pilocytic astrocytoma.

Scholz C, Golas MM, Weber RG, Hartmann C, Lehmann U, Sahm F, Schmidt G, Auber B, Sturm M, Schlegelberger B, Illig T, Steinemann D, Hofmann W. Scholz C, et al. Among authors: auber b. Clin Genet. 2018 Jul;94(1):185-186. doi: 10.1111/cge.13216. Epub 2018 Mar 2. Clin Genet. 2018. PMID: 29498415

4

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: auber b. Clin Neuropathol. 2022 Jul-Aug;41(4):162-167. doi: 10.5414/NP301464. Clin Neuropathol. 2022. PMID: 35445657

5

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: auber b. 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.

6

Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families.

Weber CAM, Krönke N, Volk V, Auber B, Förster A, Trost D, Geffers R, Esmaeilzadeh M, Lalk M, Nabavi A, Samii A, Krauss JK, Feuerhake F, Hartmann C, Wiese B, Brand F, Weber RG. Weber CAM, et al. Among authors: auber b. Acta Neuropathol Commun. 2023 Nov 21;11(1):184. doi: 10.1186/s40478-023-01689-5. Acta Neuropathol Commun. 2023. PMID: 37990341 Free PMC article.

7

Germline variants in patients developing second malignant neoplasms after therapy for pediatric acute lymphoblastic leukemia-a case-control study.

Junk SV, Förster A, Schmidt G, Zimmermann M, Fedders B, Haermeyer B, Bergmann AK, Möricke A, Cario G, Auber B, Schrappe M, Kratz CP, Stanulla M. Junk SV, et al. Among authors: auber b. Leukemia. 2024 Apr;38(4):887-892. doi: 10.1038/s41375-024-02173-2. Epub 2024 Feb 27. Leukemia. 2024. PMID: 38413718 Free PMC article. No abstract available.

8

Rational therapy with vigabatrin and a ketogenic diet in a patient with GAD1 deficiency.

von Hardenberg S, Richter MF, Hethey S, Yaspo ML, Auber B, Schlegelberger B, Illig T, Guthmann F, Christen HJ, Ripperger T, Bergmann AK. von Hardenberg S, et al. Among authors: auber b. Brain. 2020 Dec 5;143(11):e91. doi: 10.1093/brain/awaa289. Brain. 2020. PMID: 33146701 No abstract available.

9

A holistic approach to maximise diagnostic output in trio exome sequencing.

von Hardenberg S, Wallaschek H, Du C, Schmidt G, Auber B. von Hardenberg S, et al. Among authors: auber b. Front Pediatr. 2023 May 19;11:1183891. doi: 10.3389/fped.2023.1183891. eCollection 2023. Front Pediatr. 2023. PMID: 37274821 Free PMC article.

10

From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high-throughput sequencing.

van Luttikhuizen JL, Bublitz J, Schubert S, Schmidt G, Hofmann W, Morlot S, Buurman R, Auber B, Schlegelberger B, Steinemann D. van Luttikhuizen JL, et al. Among authors: auber b. Mol Genet Genomic Med. 2020 Sep;8(9):e1045. doi: 10.1002/mgg3.1045. Epub 2019 Nov 13. Mol Genet Genomic Med. 2020. PMID: 31724318 Free PMC article.

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