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2014 2
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2019 1
2021 3
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Page 1
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Ebstein F, Küry S, Most V, Rosenfelt C, Scott-Boyer MP, van Woerden GM, Besnard T, Papendorf JJ, Studencka-Turski M, Wang T, Hsieh TC, Golnik R, Baldridge D, Forster C, de Konink C, Teurlings SMW, Vignard V, van Jaarsveld RH, Ades L, Cogné B, Mignot C, Deb W, Jongmans MCJ, Cole FS, van den Boogaard MH, Wambach JA, Wegner DJ, Yang S, Hannig V, Brault JA, Zadeh N, Bennetts B, Keren B, Gélineau AC, Powis Z, Towne M, Bachman K, Seeley A, Beck AE, Morrison J, Westman R, Averill K, Brunet T, Haasters J, Carter MT, Osmond M, Wheeler PG, Forzano F, Mohammed S, Trakadis Y, Accogli A, Harrison R, Guo Y, Hakonarson H, Rondeau S, Baujat G, Barcia G, Feichtinger RG, Mayr JA, Preisel M, Laumonnier F, Kallinich T, Knaus A, Isidor B, Krawitz P, Völker U, Hammer E, Droit A, Eichler EE, Elgersma Y, Hildebrand PW, Bolduc F, Krüger E, Bézieau S. Ebstein F, et al. Among authors: mayr ja. Sci Transl Med. 2023 May 31;15(698):eabo3189. doi: 10.1126/scitranslmed.abo3189. Epub 2023 May 31. Sci Transl Med. 2023. PMID: 37256937 Free PMC article.
TMEM70 deficiency: long-term outcome of 48 patients.
Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoğlu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanović V, Dionisi-Vici C, van Coster R, Morava E, Sperl W, Zeman J, Honzik T. Magner M, et al. Among authors: mayr ja. J Inherit Metab Dis. 2015 May;38(3):417-26. doi: 10.1007/s10545-014-9774-8. Epub 2014 Oct 18. J Inherit Metab Dis. 2015. PMID: 25326274
A knock-in rat model unravels acute and chronic renal toxicity in glutaric aciduria type I.
Gonzalez Melo M, Fontana AO, Viertl D, Allenbach G, Prior JO, Rotman S, Feichtinger RG, Mayr JA, Costanzo M, Caterino M, Ruoppolo M, Braissant O, Barbey F, Ballhausen D. Gonzalez Melo M, et al. Among authors: mayr ja. Mol Genet Metab. 2021 Dec;134(4):287-300. doi: 10.1016/j.ymgme.2021.10.003. Epub 2021 Nov 10. Mol Genet Metab. 2021. PMID: 34799272 Free article.
The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.
Gonzalez Melo M, Remacle N, Cudré-Cung HP, Roux C, Poms M, Cudalbu C, Barroso M, Gersting SW, Feichtinger RG, Mayr JA, Costanzo M, Caterino M, Ruoppolo M, Rüfenacht V, Häberle J, Braissant O, Ballhausen D. Gonzalez Melo M, et al. Among authors: mayr ja. Mol Genet Metab. 2021 Jun;133(2):157-181. doi: 10.1016/j.ymgme.2021.03.017. Epub 2021 Apr 18. Mol Genet Metab. 2021. PMID: 33965309 Free article.
Erratum to: TMEM70 deficiency: long-term outcome of 48 patients.
Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoğlu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanović V, Dionisi-Vici C, van Coster R, Morava E, Sperl W, Zeman J, Honzik T. Magner M, et al. Among authors: mayr ja. J Inherit Metab Dis. 2015 May;38(3):583-4. doi: 10.1007/s10545-015-9833-9. J Inherit Metab Dis. 2015. PMID: 25778942 No abstract available.
Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy.
Kušíková K, Feichtinger RG, Csillag B, Kalev OK, Weis S, Duba HC, Mayr JA, Weis D. Kušíková K, et al. Among authors: mayr ja. Front Pediatr. 2021 Apr 16;9:660076. doi: 10.3389/fped.2021.660076. eCollection 2021. Front Pediatr. 2021. PMID: 33937156 Free PMC article.
A ketogenic diet supplemented with medium-chain triglycerides enhances the anti-tumor and anti-angiogenic efficacy of chemotherapy on neuroblastoma xenografts in a CD1-nu mouse model.
Aminzadeh-Gohari S, Feichtinger RG, Vidali S, Locker F, Rutherford T, O'Donnel M, Stöger-Kleiber A, Mayr JA, Sperl W, Kofler B. Aminzadeh-Gohari S, et al. Among authors: mayr ja. Oncotarget. 2017 Aug 8;8(39):64728-64744. doi: 10.18632/oncotarget.20041. eCollection 2017 Sep 12. Oncotarget. 2017. PMID: 29029389 Free PMC article.