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2016 5
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2018 2
2019 5
2020 3
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2024 1

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Page 1
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
Julia-Palacios NA, Kuseyri Hübschmann O, Olivella M, Pons R, Horvath G, Lücke T, Fung CW, Wong SN, Cortès-Saladelafont E, Rovira-Remisa MM, Yıldız Y, Mercimek-Andrews S, Assmann B, Stevanović G, Manti F, Brennenstuhl H, Jung-Klawitter S, Jeltsch K, Sivri HS, Garbade SF, García-Cazorla À, Opladen T. Julia-Palacios NA, et al. Among authors: jung klawitter s. J Inherit Metab Dis. 2024 Mar 18. doi: 10.1002/jimd.12723. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 38499966
Generation of an induced pluripotent stem cell line (DHMCi006-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a compound heterozygous missense mutation in the fibrocystin encoding PKHD1 gene.
Fluhr TL, Tabatabaeifar M, Syring H, Göhring G, Schaefer F, Jung-Klawitter S. Fluhr TL, et al. Among authors: jung klawitter s. Stem Cell Res. 2021 Dec;57:102579. doi: 10.1016/j.scr.2021.102579. Epub 2021 Oct 18. Stem Cell Res. 2021. PMID: 34695767 Free article.
Generation of an induced pluripotent stem cell line (DHMCi007-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a homozygous missense mutation in the fibrocystin-encoding PKHD1 gene.
Tabatabaeifar M, Fluhr TL, Syring H, Göhring G, Schaefer F, Jung-Klawitter S. Tabatabaeifar M, et al. Among authors: jung klawitter s. Stem Cell Res. 2021 Dec;57:102573. doi: 10.1016/j.scr.2021.102573. Epub 2021 Oct 16. Stem Cell Res. 2021. PMID: 34688127 Free article.
Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1.
Brennenstuhl H, Didiasova M, Assmann B, Bertoldi M, Molla G, Jung-Klawitter S, Kuseyri Hübschmann O, Schröter J, Opladen T, Tikkanen R. Brennenstuhl H, et al. Among authors: jung klawitter s. Int J Mol Sci. 2020 Nov 13;21(22):8578. doi: 10.3390/ijms21228578. Int J Mol Sci. 2020. PMID: 33203024 Free PMC article.
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.
Wagner M, Lévy J, Jung-Klawitter S, Bakhtiari S, Monteiro F, Maroofian R, Bierhals T, Hempel M, Elmaleh-Bergès M, Kitajima JP, Kim CA, Salomao JG, Amor DJ, Cooper MS, Perrin L, Pipiras E, Neu A, Doosti M, Karimiani EG, Toosi MB, Houlden H, Jin SC, Si YC, Rodan LH, Venselaar H, Kruer MC, Kok F, Hoffmann GF, Strom TM, Wortmann SB, Tabet AC, Opladen T. Wagner M, et al. Among authors: jung klawitter s. Genet Med. 2020 Jun;22(6):1061-1068. doi: 10.1038/s41436-020-0768-7. Epub 2020 Feb 26. Genet Med. 2020. PMID: 32099069 Free article.
Succinic Semialdehyde Dehydrogenase Deficiency: An Update.
Didiášová M, Banning A, Brennenstuhl H, Jung-Klawitter S, Cinquemani C, Opladen T, Tikkanen R. Didiášová M, et al. Among authors: jung klawitter s. Cells. 2020 Feb 19;9(2):477. doi: 10.3390/cells9020477. Cells. 2020. PMID: 32093054 Free PMC article. Review.
22 results