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Page 1
Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.
Davidson AE, Siddiqui FM, Lopez MA, Lunt P, Carlson HA, Moore BE, Love S, Born DE, Roper H, Majumdar A, Jayadev S, Underhill HR, Smith CO, von der Hagen M, Hubner A, Jardine P, Merrison A, Curtis E, Cullup T, Jungbluth H, Cox MO, Winder TL, Abdel Salam H, Li JZ, Moore SA, Dowling JJ. Davidson AE, et al. Among authors: hubner a. Brain. 2013 Feb;136(Pt 2):508-21. doi: 10.1093/brain/aws344. Brain. 2013. PMID: 23413262 Free PMC article.
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
Senderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera CJ, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hübner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmüller H. Senderek J, et al. Among authors: hubner a. Am J Hum Genet. 2011 Feb 11;88(2):162-72. doi: 10.1016/j.ajhg.2011.01.008. Am J Hum Genet. 2011. PMID: 21310273 Free PMC article.
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
Geis T, Rödl T, Topaloğlu H, Balci-Hayta B, Hinreiner S, Müller-Felber W, Schoser B, Mehraein Y, Hübner A, Zirn B, Hoopmann M, Reutter H, Mowat D, Schuierer G, Schara U, Hehr U, Kölbel H. Geis T, et al. Among authors: hubner a. Orphanet J Rare Dis. 2019 Jul 16;14(1):179. doi: 10.1186/s13023-019-1119-0. Orphanet J Rare Dis. 2019. PMID: 31311558 Free PMC article.
Policy as normative influence? On the relationship between parental leave policy and social norms in gender division of childcare across 48 countries.
Schindler S, Schuster C, Olsson MIT, Froehlich L, Hübner AK, Block K, Van Laar C, Schmader T, Meeussen L, van Grootel S, Croft A, Sun MS, Ainsaar M, Aarntzen L, Adamus M, Anderson J, Atkinson C, Avicenna M, Bąbel P, Barth M, Benson-Greenwald T, Maloku E, Berent J, Bergsieker HB, Biernat M, Birneanu A, Bodinaku B, Bosak J, Bosson J, Branković M, Burkauskas J, Čavojová V, Cheryan S, Choi E, Choi I, Contreras-Ibáñez CC, Coogan A, Danyliuk I, Dar-Nimrod I, Dasgupta N, de Lemus S, Devos T, Diab M, Diekman AB, Efremova M, Eisner L, Eller A, Erentaite R, Fedáková D, Franc R, Gartzia L, Gavreliuc A, Gavreliuc D, Gecaite-Stonciene J, Germano AL, Giovannelli I, Gismondi Diaz R, Gitikhmayeva L, Gizaw AM, Gjoneska B, González OM, González R, Grijalva ID, Güngör D, Gustafsson Sendén M, Hall W, Harb C, Hassan B, Hässler T, Hawi DR, Henningsen L, Hoppe A, Ishii K, Jakšić I, Jasini A, Jurkevičienė J, Kelmendi K, Kirby TA, Kitakaji Y, Kosakowska-Berezecka N, Kozytska I, Kulich C, Kundtová-Klocová E, Kunuroglu F, Aidy CL, Lee A, Lindqvist A, López-López W, Luzvinda L, Maricchiolo F, Martinot D, McNamara RA, Meister A, Melka TL, Mickuviene N, Miranda-Orrego MI, Mkamwa T, Morandini J, Morton T… See abstract for full author list ➔ Schindler S, et al. Among authors: hubner ak. Br J Soc Psychol. 2024 Oct 23. doi: 10.1111/bjso.12806. Online ahead of print. Br J Soc Psychol. 2024. PMID: 39439425
Facilitating accessible, rapid, and appropriate processing of ancient metagenomic data with AMDirT.
Borry M, Forsythe A, Andrades Valtueña A, Hübner A, Ibrahim A, Quagliariello A, White AE, Kocher A, Vågene ÅJ, Bartholdy BP, Spurīte D, Ponce-Soto GY, Neumann G, Huang IT, Light I, Velsko IM, Jackson I, Frangenberg J, Serrano JG, Fumey J, Özdoğan KT, Blevins KE, Daly KG, Lopopolo M, Moraitou M, Michel M, van Os M, Bravo-Lopez MJ, Sarhan MS, Dagtas ND, Oskolkov N, Smith OS, Lebrasseur O, Rozwalak P, Eisenhofer R, Wasef S, Ramachandran SL, Vanghi V, Warinner C, Fellows Yates JA. Borry M, et al. Among authors: hubner a. F1000Res. 2024 May 28;12:926. doi: 10.12688/f1000research.134798.2. eCollection 2023. F1000Res. 2024. PMID: 39262445 Free PMC article.
Planetary health: A great opportunity for anaesthesiologists.
Hübner A, Nakoinz A, Schulz CM. Hübner A, et al. Eur J Anaesthesiol. 2024 Oct 1;41(10):719-721. doi: 10.1097/EJA.0000000000002049. Epub 2024 Sep 11. Eur J Anaesthesiol. 2024. PMID: 39228238 No abstract available.
212 results