Programm Molekulare Therapie bei Genodermatosen
Publikationen

Complicated and deep bacterial skin and soft tissue infections

Christine Prodinger, Arno Lechner, Arno Maria Hintersteininger, Jan Marco Kern, Matthias Meissnitzer, Damian Meyersburg, Johann Bauer, Martin Laimer

HMCN1 variants aggravate epidermolysis bullosa simplex phenotype

Shir Bergson, Ofer Sarig, Moshe Giladi, Janan Mohamad, Mariana Mogezel-Salem, Karina Smorodinsky-Atias, Ofir Sade, Bar Manori, Sari Assaf, Kiril Malovitski, Yarden Feller, Mor Pavlovsky, Stefan Hainzl, Thomas Kocher, Julia I. Hummel, Noy Eretz Kdosha, Lubna Gazi Khair, Roland Zauner, Josefina Pinon Hofbauer, Ruby Shalom-Feuerstein, Verena Wally, Ulrich Koller, Liat Samuelov, Yoni Haitin, Uri Ashery, Rotem Rubinstein, Eli Sprecher , EXPRESSION; DISEASE SEVERITY; MUTATIONS; GENES; KERATIN-5; RECESSIVE DYSTROPHIC EPIDERMOLYSIS; MMP1 PROMOTER; MACULAR DEGENERATION; Digenic inheritance; Hemicentin;

The physical, emotional, social, and functional dimensions of epidermolysis bullosa. An interview study on burdens and helpful aspects from a patients' perspective

Gudrun Salamon, Sophie Strobl, Marie-Stephanie Matschnig, Anja Diem , PAIN; HEALTH; ADULTS; QUALITY-OF-LIFE; ANXIETY; CHILDREN; RARE; PSYCHOSOCIAL IMPACT; Gastrostomy;

Repurposing diacerein for the treatment of chronic wounds in recessive-dystrophic epidermolysis bullosa patients by modulating matrix metalloproteinase-9 expression

Sonja Dorfer, Michael Ablinger, Monika Wimmer, Julia I Hummel, Selma Ibrahimpašić, Anja Diem, Martin Laimer, Stefanie Gruner, Josefina Piñón Hofbauer, Christina Guttmann-Gruber, Ulrich Koller, Iris K Gratz, Johann W Bauer, Roland Zauner, Verena Wally

Emerging DNA & RNA editing strategies for the treatment of epidermolysis bullosa

Ulrich Koller, Johann W Bauer , Humans; Epidermolysis Bullosa/therapy; Gene editing; Quality of life; Genetic Therapy; CRISPR-Cas Systems; RNA Editing;

The power of next-generation-sequencing

Alfred Klausegger, Johann W. Bauer

Netskinmodels

Hristijan Goreski, Dusko Ilic, Vincent Flacher, Ellen van den Bogaard, Christina Guttmann-Gruber, Reiko J. Tanaka, Gulcihan Gulseren, Christophe Marquette, Joachim Fluhr, Viviane Filor, Serghei Sprincean, Sandrine Dubrac, , Artificial Intelligence; ORGANOTYPIC CULTURES; Computational models; Skin modeling; Skin organoids;

Optimizing designs in clinical trials with an application in treatment of Epidermolysis bullosa simplex, a rare genetic skin disease

Joakim Nyberg, Andrew C. Hooker, Georg Zimmermann, Johan Verbeeck, Martin Geroldinger, Konstantin Emil Thiel, Geert Molenberghs, Martin Laimer, Verena Wally , Epidermolysis bullosa simplex; Clinical trial design; D-optimal; Optimal design;

Rigosertib demonstrates considerable efficacy and safety in the treatment of advanced/metastatic cutaneous squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa

M. Laimer, A. South, H. Y. Yang, L. Banner, E. Mayr, S. Kitzmueller, M. Parris, M. Arora, J. Bauer, N. Nikbakht

Epidemiology of epidermolysis bullosa in Chile

Francis Palisson, Maria Joao Yubero, Cristobal Lecaros, Susanne Kramer, Constanza Fuentes, Pilar Morande, Belkis Noya, Glenda Cofre, Jimena Castillo, Francisco Acevedo, Natalia Burattini, Antonella Munoz, Alfred Klausseger, Ignacia Fuentes , MUTATIONS;

Novel Austrian Care and Prevention Guide for Children and Adolescents with Nf1

Amedeo A. Azizi, Alicia-Christina Baumgartner, Cora Hedrich, Markus Seidl, Joachim Zobel, Georg Ebetsberger-Dachs, Herta Zellner, Christian Rauscher, Robert Birnbacher, Ursula Pichler, Edda Haberlandt, Anna Sophie Bergmeister-Berghoff, Robert Gruber, Tobias Welponer, Markus Hutterer, Thomas Pletschko, Kerstin Krottendorfer, Claas Roehl

Towards a roadmap for COSEB

Eva W. H. Korte, Anna M. G. Pasmooij, Maria C. Bolling, Sinead Hickey, Sagair Hussain, Dimitra Kiritsi, Jan Kottner, Cecilia A. C. Prinsen, Angelique Sauvestre, Gaston Sendin, Phyllis Spuls, Nuria Tarrats, Verena Wally, Tobias Welponer, Martin Laimer, Peter C. van den Akker,

Systemic metabolic effects of medium-chain fatty acids supplementation

F. Sternberg, M. Wimmer, J. Arapovic, T. Hommel, V. Panteva, A. Gregor, K. Duszka, B. Kofler, V. Somoza, J. Koenig, A. Dunkel, E. Pohl

The psychosocial impact of a chronic disease in Ireland

Gudrun Salamon, Ursula Field-Werners, Sophie Strobl, Vinzenz Huebl, Anja Diem , BURDEN; Epidermolysis bullosa; Quality of life; Healthcare system; Resources; Care practices; Health policy implications;

Die österreichische Dermatologie

Martin Laimer, Christian Posch, Johann Bauer

Facing the complex challenges of people with epidermolysis bullosa in Austria

Gudrun Salamon, Ursula Field-Werners, Sophie Strobl, Vinzenz Huebl, Anja Diem , BURDEN; Epidermolysis bullosa; Quality of life; Healthcare system; Resources;

Preisträger stellen sich vor

Tobias Welponer, Johanna Strobl , Humans; GERMANY; Awards and Prizes; Dermatology/history; History, 21st Century;

Orofacial Anomalies in Kindler Epidermolysis Bullosa

Susanne Krämer, Anna Lena Hillebrecht, Yao Wang, Mihail-Alexandru Badea, Jose Ignacio Barrios, Sorina Danescu, Ignacia Fuentes, Demet Kartal, Alfred Klausegger, Enrique Ponce de León, Reinhard Schilke, Ivelina Yordanova, Agnes Bloch-Zupan, Cristina Has

Correction to: Heterogeneity of reported outcomes in epidermolysis bullosa clinical research

Eva W. H. Korte, Tobias Welponer, Jan Kottner, Sjoukje van der Werf, Peter C. van den Akker, Barbara Horvath, Dimitra Kiritsi, Martin Laimer, Anna M. G. Pasmooij, Verena Wally, Maria C. Bolling

Neurofibromatosis type 1

Amedeo A. Azizi, Alicia-Christina Baumgartner, Markus Seidel, Joachim Zobel, Georg Ebetsberger-Dachs, Herta Zellner, Christian Rauscher, Robert Birnbacher, Ursula Pichler, Edda Haberlandt, Cora Hedrich, Anna Sophie Berghoff, Robert W. Gruber, Tobias Welponer, Markus Hutterer, Kerstin Krottendorfer, Thomas Pletschko, Claas Roehl