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Anzahl der Publikationen: 6
Zeitschriftenartikel
Bhattacharya, Debjani; Silva-Buttkus, Patricia da; Nalbach, Karsten 
ORCID: https://orcid.org/0000-0002-3928-4026; Cheng, Lizhen; Garrett, Lillian; Irmler, Martin; Kislinger, Georg ORCID: https://orcid.org/0000-0002-6559-7421; Werner, Georg ORCID: https://orcid.org/0000-0001-5328-3049; Rodde, Ramona; Lengger, Christoph ORCID: https://orcid.org/0000-0002-2207-4153; Beckers, Johannes ORCID: https://orcid.org/0000-0001-7874-3822; Zimprich, Annemarie ORCID: https://orcid.org/0000-0003-2078-6779; Hölter, Sabine M. ORCID: https://orcid.org/0000-0003-4878-5241; Gailus-Durner, Valerie; Fuchs, Helmut; Hrabe de Angelis, Martin ORCID: https://orcid.org/0000-0002-7898-2353; Wefers, Benedikt ORCID: https://orcid.org/0000-0002-2492-9389; Wurst, Wolfgang ORCID: https://orcid.org/0000-0003-4422-7410; Brill, Monika S. ORCID: https://orcid.org/0000-0001-5422-9175; Schifferer, Martina ORCID: https://orcid.org/0000-0002-0500-8218; Lichtenthaler, Stefan F. ORCID: https://orcid.org/0000-0003-2211-2575 und Behrends, Christian ORCID: https://orcid.org/0000-0002-9184-7607
(2025):
Neuropathy-associated Tecpr2 mutation knock-in mice reveal endolysosomal loss of function phenotypes in neurons and microglia.
In: Cell Death & Disease, Bd. 16, 775
[PDF, 13MB]
ORCID: https://orcid.org/0000-0002-3928-4026; Cheng, Lizhen; Garrett, Lillian; Irmler, Martin; Kislinger, Georg ORCID: https://orcid.org/0000-0002-6559-7421; Werner, Georg ORCID: https://orcid.org/0000-0001-5328-3049; Rodde, Ramona; Lengger, Christoph ORCID: https://orcid.org/0000-0002-2207-4153; Beckers, Johannes ORCID: https://orcid.org/0000-0001-7874-3822; Zimprich, Annemarie ORCID: https://orcid.org/0000-0003-2078-6779; Hölter, Sabine M. ORCID: https://orcid.org/0000-0003-4878-5241; Gailus-Durner, Valerie; Fuchs, Helmut; Hrabe de Angelis, Martin ORCID: https://orcid.org/0000-0002-7898-2353; Wefers, Benedikt ORCID: https://orcid.org/0000-0002-2492-9389; Wurst, Wolfgang ORCID: https://orcid.org/0000-0003-4422-7410; Brill, Monika S. ORCID: https://orcid.org/0000-0001-5422-9175; Schifferer, Martina ORCID: https://orcid.org/0000-0002-0500-8218; Lichtenthaler, Stefan F. ORCID: https://orcid.org/0000-0003-2211-2575 und Behrends, Christian ORCID: https://orcid.org/0000-0002-9184-7607
(2025):
Neuropathy-associated Tecpr2 mutation knock-in mice reveal endolysosomal loss of function phenotypes in neurons and microglia.
In: Cell Death & Disease, Bd. 16, 775
[PDF, 13MB]
Biagosch, Caroline A.; Vidali, Silvia; Faerberboeck, Michael; Hensler, Svenja-Viola; Becker, Lore; Amarie, Oana V.; Aguilar-Pimentel, Antonio; Garrett, Lillian; Klein-Rodewald, Tanja; Rathkolb, Birgit; Zanuttigh, Enrica; Calzada-Wack, Julia; Silva-Buttkus, Patricia da; Rozman, Jan; Treise, Irina; Fuchs, Helmut; Gailus-Durner, Valerie; Hrabe de Angelis, Martin; Janik, Dirk; Wurst, Wolfgang; Mayr, Johannes A.; Klopstock, Thomas; Meitinger, Thomas; Prokisch, Holger und Iuso, Arcangela
(2021):
A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse.
In: Mammalian Genome, Bd. 32, Nr. 5: S. 332-349
[PDF, 3MB]
Vidali, Silvia; Gerlini, Raffaele; Thompson, Kyle; Urquhart, Jill E.; Meisterknecht, Jana; Aguilar-Pimentel, Juan Antonio; Amarie, Oana V.; Becker, Lore; Breen, Catherine; Calzada-Wack, Julia; Chhabra, Nirav F.; Cho, Yi-Li; Silva-Buttkus, Patricia da; Feichtinger, Rene G.; Gampe, Kristine; Garrett, Lillian; Hoefig, Kai P.; Hoelter, Sabine M.; Jameson, Elisabeth; Klein-Rodewald, Tanja; Leuchtenberger, Stefanie; Marschall, Susan; Mayer-Kuckuk, Philipp; Miller, Gregor; Oestereicher, Manuela A.; Pfannes, Kristina; Rathkolb, Birgit; Rozman, Jan; Sanders, Charlotte; Spielmann, Nadine; Stoeger, Claudia; Szibor, Marten; Treise, Irina; Walter, John H.; Wurst, Wolfgang; Mayr, Johannes A.; Fuchs, Helmut; Gaertner, Ulrich; Wittig, Ilka; Taylor, Robert W.; Newman, William G.; Prokisch, Holger; Gailus-Durner, Valerie und Hrabe de Angelis, Martin
(2021):
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes.
In: EMBO Molecular Medicine, Bd. 13, Nr. 12, e14397
Lucienne, Marie; Aguilar-Pimentel, Juan Antonio; Amarie, Oana V.; Becker, Lore; Calzada-Wack, Julia; Silva-Buttkus, Patricia da; Garrett, Lillian; Holter, Sabine M.; Mayer-Kuckuk, Philipp; Rathkolb, Birgit; Rozman, Jan; Spielmann, Nadine; Treise, Irina; Busch, Dirk H.; Klopstock, Thomas; Schmidt-Weber, Carsten; Wolf, Eckhard; Wurst, Wolfgang; Forny, Merima; Mathis, Deborah; Fingerhut, Ralph; Froese, D. Sean; Gailus-Durner, Valerie; Fuchs, Helmut; Hrabe de Angelis, Martin und Baumgartner, Matthias R.
(2020):
In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria.
In: Biochimica et Biophysica Acta-Molecular Basis of Disease, Bd. 1866, Nr. 3, 165622
[PDF, 2MB]
Vetrivel, Sharmilee; Tiso, Natascia; Kuegler, Andrea; Irmler, Martin; Horsch, Marion; Beckers, Johannes; Hladik, Daniela; Giesert, Florian; Gailus-Durner, Valerie; Fuchs, Helmut; Sabrautzki, Sibylle; Angelis, Martin Hrabe de; Graw, Jochen; Adler, Thure; Treise, Irina; Busch, Dirk H.; Aguilar-Pimentel, Antonio; Ollert, Markus; Götz, Alexander; Amarie, Oana; Stoeger, Tobias; Schulz, Holger; Becker, Lore; Klopstock, Thomas; Schrewe, Anja; Spielmann, Nadine; Bekeredjian, Raffi; Garrett, Lillian; Hoelter, Sabine M.; Zimprich, Annemarie; Wurst, Wolfgang; Mayer-Kuckuk, Philipp; Hans, Wolfgang; Rozman, Jan; Klingenspor, Martin; Neff, Frauke; Silva-Buttkus, Patricia da; Calzada-Wack, Julia; Racz, Ildiko; Zimmer, Andreas; Rathkolb, Birgit; Wolf, Eckhard; Prehn, Cornelia; Adamski, Jerzy; Oestereicher, Manuela; Miller, Gregor; Steinkamp, Ralph; Lengger, Christoph; Maier, Holger; Stoeger, Claudia und Leuchtenberger, Stefanie
(2019):
Mutation in the mouse histone gene Hist2h3c1 leads to degeneration of the lens vesicle and severe microphthalmia.
In: Experimental Eye Research, Bd. 188, UNSP 107632
[PDF, 7MB]
Staropoli, John F.; Haliw, Larissa; Biswas, Sunita; Garrett, Lillian; Hölter, Sabine M.; Becker, Lore; Skosyrski, Sergej; Silva-Buttkus, Patricia da; Calzada-Wack, Julia; Neff, Frauke; Rathkolb, Birgit; Rozman, Jan; Schrewe, Anja; Adler, Thure; Puk, Oliver; Sun, Minxuan; Favor, Jack; Racz, Ildikó; Bekeredjian, Raffi; Busch, Dirk H.; Graw, Jochen; Klingenspor, Martin; Klopstock, Thomas; Wolf, Eckhard; Wurst, Wolfgang; Zimmer, Andreas; Lopez, Edith; Harati, Hayat; Hill, Eric; Krause, Daniela S.; Guide, Jolene; Dragileva, Ella; Gale, Evan; Wheeler, Vanessa C.; Boustany, Rose-Mary; Brown, Diane E.; Breton, Sylvie; Ruether, Klaus; Gailus-Durner, Valérie; Fuchs, Helmut; Hrabé de Angelis, Martin und Cotman, Susan L.
(2012):
Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system.
In: PLOS ONE 7(6), e38310 [PDF, 4MB]
In: PLOS ONE 7(6), e38310 [PDF, 4MB]