Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Nadine Spielmann"'
Autor:
Elisabeth Jameson, Johannes A. Mayr, Manuela A. Oestereicher, John H. Walter, Juan Antonio Aguilar-Pimentel, Wolfgang Wurst, William G. Newman, Stefanie Leuchtenberger, Patricia da Silva-Buttkus, Jill E. Urquhart, Helmut Fuchs, Ilka Wittig, Robert W. Taylor, Silvia Vidali, René G. Feichtinger, Jana Meisterknecht, Martin Hrabě de Angelis, Lore Becker, Philipp Mayer-Kuckuk, Kai P. Hoefig, Yi-Li Cho, Catherine Breen, Nadine Spielmann, Marten Szibor, Raffaele Gerlini, Irina Treise, Lillian Garrett, Nirav Florian Chhabra, Oana V. Amarie, Kyle Thompson, Charlotte Sanders, Susan Marschall, Jan Rozman, Holger Prokisch, Kristine Gampe, Birgit Rathkolb, Sabine M. Hölter, Kristina Pfannes, Gregor Miller, Tanja Klein-Rodewald, Valerie Gailus-Durner, Julia Calzada-Wack, Ulrich Gärtner, Claudia Stoeger
Publikováno v:
EMBO Molecular Medicine
Newman, W, Urquhart, J, Breen, C, Walter, J & Jameson, E 2021, ' Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes ', EMBO Molecular Medicine, vol. 13, no. 12, e14397 . https://doi.org/10.15252/emmm.202114397
EMBO Mol. Med.:e14397 (2021)
EMBO molecular medicine 13(12), e14397 (2021). doi:10.15252/emmm.202114397
EMBO Molecular Medicine, Vol 13, Iss 12, Pp n/a-n/a (2021)
Newman, W, Urquhart, J, Breen, C, Walter, J & Jameson, E 2021, ' Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes ', EMBO Molecular Medicine, vol. 13, no. 12, e14397 . https://doi.org/10.15252/emmm.202114397
EMBO Mol. Med.:e14397 (2021)
EMBO molecular medicine 13(12), e14397 (2021). doi:10.15252/emmm.202114397
EMBO Molecular Medicine, Vol 13, Iss 12, Pp n/a-n/a (2021)
Mitochondrial disorders are clinically and genetically diverse, with isolated complex III (CIII) deficiency being relatively rare. Here, we describe two affected cousins, presenting with recurrent episodes of severe lactic acidosis, hyperammonaemia,
Autor:
Paul Flicek, Raffaele Teperino, Lydia Teboul, Thomas Werner, Marie-France Champy, Christopher J. Lelliott, Graham R. Williams, Jacqueline K. White, Gregor Miller, Mary E. Dickinson, Ann M Flenniken, Radislav Sedlacek, Martin Hrabé de Angelis, John R. Seavitt, Peter I. Croucher, Maria del Mar Muniz Moreno, Sara Wells, Jan Rozman, Terrence F. Meehan, Kristian F Odfalk, Juan Gallegos, J. H. Duncan Bassett, Mohammed Selloum, John G. Logan, Sylvie Jacquot, Elena J. Ghirardello, Robert Braun, Frantisek Spoutil, Kevin C K Lloyd, Lore Becker, Stephen A. Murray, Jan Prochazka, Elif F. Acar, Taylor S Vales, Michelle Simon, Helmut Fuchs, Nadine Spielmann, Mark Griffiths, Piia Keskivali-Bond, Valerie Gailus-Durner, Tania Sorg, Christine Schütt, Jeremy Mason, Helen Parkinson, Karen L. Svenson, Abdel Ayadi, Anna L Swan, Jason D. Heaney, Colin McKerlie, Wolfgang Wurst, Ann-Marie Mallon, Heather Cater, Stefanie Leuchtenberger, Harald Grallert, Steve D.M. Brown, Stefan Brandmaier, Yann Herault, Philipp Mayer-Kuckuk, Corey L. Reynolds, Ala Moshiri, Robert Brommage, Derek D. Cissell, Lauryl M J Nutter, Connor Lally
Publikováno v:
PLoS Genetics
PLoS Genetics, Public Library of Science, 2020, 16 (12), pp.e1009190. ⟨10.1371/journal.pgen.1009190⟩
PLoS genetics, vol 16, iss 12
PLoS Genet. 16:e1009190 (2021)
PLoS Genetics 16(12), e1009190 (2020). doi:10.1371/journal.pgen.1009190
PLOS Genetics
PLoS Genetics, 2020, 16 (12), pp.e1009190. ⟨10.1371/journal.pgen.1009190⟩
PLoS Genetics, Vol 16, Iss 12, p e1009190 (2020)
PLoS Genetics, Public Library of Science, 2020, 16 (12), pp.e1009190. ⟨10.1371/journal.pgen.1009190⟩
PLoS genetics, vol 16, iss 12
PLoS Genet. 16:e1009190 (2021)
PLoS Genetics 16(12), e1009190 (2020). doi:10.1371/journal.pgen.1009190
PLOS Genetics
PLoS Genetics, 2020, 16 (12), pp.e1009190. ⟨10.1371/journal.pgen.1009190⟩
PLoS Genetics, Vol 16, Iss 12, p e1009190 (2020)
The genetic landscape of diseases associated with changes in bone mineral density (BMD), such as osteoporosis, is only partially understood. Here, we explored data from 3,823 mutant mouse strains for BMD, a measure that is frequently altered in a ran
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd75524d05346ddd91358167446ef7f4
Autor:
Michael Pusch, Daniela Miely, Ilaria Zanardi, Bernhard Groschup, Raffaella Barbieri, Nikolaus Plesnila, Martin Hrabě de Angelis, Martin Dichgans, Tobias Freilinger, Eva Auffenberg, Ulrike B. S. Hedrich, Holger Lerche, Helmut Fuchs, Paola Gavazzo, Niklas Vogel, Valerie Gailus-Durner, Philipp Justus Lührs, Nadine Spielmann, Thomas V. Wuttke, Sara Bertelli
Publikováno v:
J. Clin. Invest. 131:e142202 (2021)
The Journal of Clinical Investigation
The Journal of Clinical Investigation
Cortical spreading depression (CSD), a wave of depolarization followed by depression of cortical activity, is a pathophysiological process implicated in migraine with aura and various other brain pathologies, such as ischemic stroke and traumatic bra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e027d947fcb4efbe4364c8908ce42dfa
https://mediatum.ub.tum.de/1639539
https://mediatum.ub.tum.de/1639539
Autor:
Helmut Fuchs, Patricia da Silva-Buttkus, Melanie T. S. Krause, Thomas Ulas, Dominik Simon Botermann, Nadine Spielmann, Dagmar Wachten, Martin Hrabě de Angelis, Elvira Mass, Vera Beckert, Sebastian Rassmann, Christina Klausen, Lorenzo Bonaguro, Anna C. Aschenbrenner, Amir Hossein Kayvanjoo, Kristian Händler, Valerie Gailus-Durner, Kristin Moreth
Publikováno v:
J. Mol. Cell. Cardiol. 156, 45-56 (2021)
Journal of molecular and cellular cardiology 156, 45-56 (2021). doi:10.1016/j.yjmcc.2021.03.008
Journal of molecular and cellular cardiology 156, 45-56 (2021). doi:10.1016/j.yjmcc.2021.03.008
CRELD1 (Cysteine-Rich with EGF-Like Domains 1) is a risk gene for non-syndromic atrioventricular septal defects in human patients. In a mouse model, Creld1 has been shown to be essential for heart development, particularly in septum and valve formati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39e358fc033d3978283b7170c65a264a
https://mediatum.ub.tum.de/1633668
https://mediatum.ub.tum.de/1633668
Autor:
Guido Eibl, David Elashoff, David T.W. Wong, Nadine Spielmann, Tristan Grogan, Yi-Ling Lin, Fang Wei, Eric Feinstein, David Chia, Christopher A. Schafer, Aune Moro, Chang Lau, Yong Kim, James J. Farrell, Samantha H. Chiang
Publikováno v:
Lau, C; Kim, Y; Chia, D; Spielmann, N; Eibl, G; Elashoff, D; et al.(2013). Role of pancreatic cancer-derived exosomes in salivary biomarker development. Journal of Biological Chemistry, 288(37), 2688-2697. doi: 10.1074/jbc.M113.452458. UCLA: Retrieved from: http://www.escholarship.org/uc/item/2t73658d
Journal of Biological Chemistry, vol 288, iss 37
Journal of Biological Chemistry, vol 288, iss 37
Recent studies have demonstrated that discriminatory salivary biomarkers can be readily detected upon the development of systemic diseases such as pancreatic cancer, breast cancer, lung cancer, and ovarian cancer. However, the utility of salivary bio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::503869219d4b4a2bf6165c9133da3355
http://www.escholarship.org/uc/item/2t73658d
http://www.escholarship.org/uc/item/2t73658d
Autor:
Claudia Kücherer, Osamah Hamouda, Katrin Keeren, Matthias an der Heiden, Dieter Münstermann, Claudia Houareau, Barbara Gunsenheimer-Bartmeyer, Ulrich Marcus, Nadine Spielmann, Hans-Jochen Hagedorn
Publikováno v:
Sexually transmitted infections. 86(5)
Numbers of newly diagnosed HIV infections among men who have sex with men (MSM) in Germany increased after the year 2000. We sought to explore trends in STI co-infections around the time of HIV seroconversion in patients from the German HIV-1 serocon