Hoffmann GF - Search Results

1

Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathy.

Schröter J, Syring H, Göhring G, Kölker S, Opladen T, Hoffmann GF, Syrbe S, Jung-Klawitter S. Schröter J, et al. Among authors: hoffmann gf. Stem Cell Res. 2022 Jul;62:102818. doi: 10.1016/j.scr.2022.102818. Epub 2022 May 24. Stem Cell Res. 2022. PMID: 35636247 Free article.

2

Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A.

Lenz D, Staufner C, Wächter S, Hagedorn M, Ebersold J, Göhring G, Kölker S, Hoffmann GF, Jung-Klawitter S. Lenz D, et al. Among authors: hoffmann gf. Stem Cell Res. 2019 Mar;35:101398. doi: 10.1016/j.scr.2019.101398. Epub 2019 Feb 11. Stem Cell Res. 2019. PMID: 30772683 Free article.

3

Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1.

Lenz D, Staufner C, Wächter S, Hagedorn M, Ebersold J, Göhring G, Kölker S, Hoffmann GF, Jung-Klawitter S. Lenz D, et al. Among authors: hoffmann gf. Stem Cell Res. 2019 May;37:101428. doi: 10.1016/j.scr.2019.101428. Epub 2019 Mar 22. Stem Cell Res. 2019. PMID: 30959346 Free article.

4

Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies.

Schröter J, Döring JH, Garbade SF, Hoffmann GF, Kölker S, Ries M, Syrbe S. Schröter J, et al. Among authors: hoffmann gf. Genet Med. 2021 Mar;23(3):516-523. doi: 10.1038/s41436-020-01001-z. Epub 2020 Oct 21. Genet Med. 2021. PMID: 33082561 Free PMC article.

5

Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy.

Schröter J, Syring H, Göhring G, Kölker S, Opladen T, Hoffmann GF, Syrbe S, Jung-Klawitter S. Schröter J, et al. Among authors: hoffmann gf. Stem Cell Res. 2022 Oct;64:102879. doi: 10.1016/j.scr.2022.102879. Epub 2022 Jul 29. Stem Cell Res. 2022. PMID: 35930870 Free article.

6

Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.

Schröter J, Popp B, Brennenstuhl H, Döring JH, Donze SH, Bijlsma EK, van Haeringen A, Huhle D, Jestaedt L, Merkenschlager A, Arelin M, Gräfe D, Neuser S, Oates S, Pal DK, Parker MJ, Lemke JR, Hoffmann GF, Kölker S, Harting I, Syrbe S. Schröter J, et al. Among authors: hoffmann gf. Eur J Hum Genet. 2022 Mar;30(3):298-306. doi: 10.1038/s41431-021-01027-0. Epub 2022 Jan 11. Eur J Hum Genet. 2022. PMID: 35017693 Free PMC article.

7

Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder.

Semino F, Schröter J, Willemsen MH, Bast T, Biskup S, Beck-Woedl S, Brennenstuhl H, Schaaf CP, Kölker S, Hoffmann GF, Haack TB, Syrbe S. Semino F, et al. Among authors: hoffmann gf. Hum Mutat. 2021 Sep;42(9):1094-1100. doi: 10.1002/humu.24245. Epub 2021 Jul 5. Hum Mutat. 2021. PMID: 34157790

8

Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases.

Saffari A, Schröter J, Garbade SF, Alecu JE, Ebrahimi-Fakhari D, Hoffmann GF, Kölker S, Ries M, Syrbe S. Saffari A, et al. Among authors: hoffmann gf. Autophagy. 2022 Jul;18(7):1715-1727. doi: 10.1080/15548627.2021.1990671. Epub 2021 Nov 24. Autophagy. 2022. PMID: 34818117 Free PMC article.

9

High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots.

Brennenstuhl H, Kohlmüller D, Gramer G, Garbade SF, Syrbe S, Feyh P, Kölker S, Okun JG, Hoffmann GF, Opladen T. Brennenstuhl H, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 2020 May;43(3):602-610. doi: 10.1002/jimd.12208. Epub 2020 Jan 6. J Inherit Metab Dis. 2020. PMID: 31849064

10

Defects in amino acid catabolism and the urea cycle.

Hoffmann GF, Kölker S. Hoffmann GF, et al. Handb Clin Neurol. 2013;113:1755-73. doi: 10.1016/B978-0-444-59565-2.00046-0. Handb Clin Neurol. 2013. PMID: 23622399 Review.

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