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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: ahmadi s. 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.
Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse Cells.
Di Lorenzo G, Velho RV, Winter D, Thelen M, Ahmadi S, Schweizer M, De Pace R, Cornils K, Yorgan TA, Grüb S, Hermans-Borgmeyer I, Schinke T, Müller-Loennies S, Braulke T, Pohl S. Di Lorenzo G, et al. Among authors: ahmadi s. Mol Cell Proteomics. 2018 Aug;17(8):1612-1626. doi: 10.1074/mcp.RA118.000720. Epub 2018 May 17. Mol Cell Proteomics. 2018. PMID: 29773673 Free PMC article.
De novo designed proteins neutralize lethal snake venom toxins.
Baker D, Torres SV, Valle MB, Mackessy S, Menzies S, Casewell N, Ahmadi S, Burlet N, Muratspahić E, Sappington I, Overath M, Rivera-de-Torre E, Ledergerber J, Laustsen AH, Boddum K, Bera A, Kang A, Brackenbrough E, Cardoso I, Crittenden E, Edge R, Decarreau J, Ragotte R, Pillai A, Abedi M, Han H, Gerben S, Murray A, Skotheim R, Stuart L, Stewart L, Fryer T, Jenkins T. Baker D, et al. Among authors: ahmadi s. Res Sq [Preprint]. 2024 May 17:rs.3.rs-4402792. doi: 10.21203/rs.3.rs-4402792/v1. Res Sq. 2024. PMID: 38798548 Free PMC article. Preprint.
The state of health in the European Union (EU-27) in 2019: a systematic analysis for the Global Burden of Disease study 2019.
Santos JV, Padron-Monedero A, Bikbov B, Grad DA, Plass D, Mechili EA, Gazzelloni F, Fischer F, Sulo G, Ngwa CH, Noguer-Zambrano I, Peñalvo JL, Haagsma JA, Kissimova-Skarbek K, Monasta L, Ghith N, Sarmiento-Suarez R, Hrzic R, Haneef R, O'Caoimh R, Cuschieri S, Mondello S, Kabir Z; GBD 2019 EU State of Health Collaborators; Freitas A, Devleesschauwer B. Santos JV, et al. BMC Public Health. 2024 May 22;24(1):1374. doi: 10.1186/s12889-024-18529-3. BMC Public Health. 2024. PMID: 38778362 Free PMC article.
Validity and reliability of Persian version of Low Physical Activity Questionnaire (LoPAQ).
Tabibi MA, Samouei R, Salimian N, Shahidi S, Atapour A, Nazemi F, Ghenaat M, Nikbakht S, Sarbazi MH, Soleymany M, Roshanaeian Z, Khajeheian B, Khaki Z, Sokani AS, Ebrahimi R, Ahmadi S. Tabibi MA, et al. Among authors: ahmadi s. BMC Nephrol. 2024 May 22;25(1):178. doi: 10.1186/s12882-024-03615-w. BMC Nephrol. 2024. PMID: 38778292 Free PMC article.
1,200 results