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Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.
Di Lorenzo G, Westermann LM, Yorgan TA, Stürznickel J, Ludwig NF, Ammer LS, Baranowsky A, Ahmadi S, Pourbarkhordariesfandabadi E, Breyer SR, Board TN, Foster A, Mercer J, Tylee K, Velho RV, Schweizer M, Renné T, Braulke T, Randon DN, Sperb-Ludwig F, de Camargo Pinto LL, Moreno CA, Cavalcanti DP, Amling M, Kutsche K, Winter D, Muschol NM, Schwartz IVD, Rolvien T, Danyukova T, Schinke T, Pohl S. Di Lorenzo G, et al. Among authors: sturznickel j. Genet Med. 2021 Dec;23(12):2369-2377. doi: 10.1038/s41436-021-01285-9. Epub 2021 Aug 2. Genet Med. 2021. PMID: 34341521 Free PMC article.
Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency.
Oheim R, Zimmerman K, Maulding ND, Stürznickel J, von Kroge S, Kavanagh D, Stabach PR, Kornak U, Tommasini SM, Horowitz MC, Amling M, Thompson D, Schinke T, Busse B, Carpenter TO, Braddock DT. Oheim R, et al. Among authors: sturznickel j. J Bone Miner Res. 2020 Mar;35(3):528-539. doi: 10.1002/jbmr.3911. Epub 2019 Dec 5. J Bone Miner Res. 2020. PMID: 31805212 Free PMC article.
Mice Carrying a Ubiquitous R235W Mutation of Wnt1 Display a Bone-Specific Phenotype.
Yorgan TA, Rolvien T, Stürznickel J, Vollersen N, Lange F, Zhao W, Baranowsky A, Rosenthal L, Hermans-Borgmeyer I, Sharaf A, Karsak M, David JP, Oheim R, Amling M, Schinke T. Yorgan TA, et al. Among authors: sturznickel j. J Bone Miner Res. 2020 Sep;35(9):1726-1737. doi: 10.1002/jbmr.4043. Epub 2020 May 20. J Bone Miner Res. 2020. PMID: 32369212 Free article.
Intraossäres Hibernom der Lendenwirbelsäule.
Rolvien T, Stürznickel J, Klatte TO, Zustin J. Rolvien T, et al. Among authors: sturznickel j. Rofo. 2021 Jan;193(1):80-82. doi: 10.1055/a-1172-6628. Epub 2020 Jun 9. Rofo. 2021. PMID: 32516828 German. No abstract available.
41 results