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Inverstigation of the genetical basis of autosomal recessive Cutis Laxa.
Authors: Dimopoulou, Aikaterini
Name of University: Charité- Univeristätsmedizin Berlin
Place of University: Berlin
Date of Approval (YYYY-MM-DD): 2010-07-02
Document Type: PhD-Thesis
ID: 556537.0
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa
Authors: Guillard, Mailys; Dimopoulou, Aikaterini; Fischer, Björn; Morava, Eva; Lefeber, Dirk J.; Kornak, Uwe; Wevers, Ron A.
Date of Publication (YYYY-MM-DD): 2009-09
Title of Journal: Biochimica et Biophysica Acta - Molecular Basis of Disease
Volume: 1792
Start Page: 903
End Page: 914
Document Type: Article
ID: 447308.0
Mutations in PYCR1 cause cutis laxa with progeroid features
Authors: Reversade, Bruno; Escande-Beillard, Nathalie; Dimopoulou, Aikaterini; Fischer, Björn; Chng, Serene C.; Li, Yun; Shboul, Mohammad; Tham, Puay-Yoke; Kayserili, Hülya; Al-Gazali, Lihadh; Shahwan, Monzer; Brancati, Francesco; Lee, Hane; O'Connor, Brian D.; Schmidt-von Kegler, Mareen; Merriman, Barry; Nelson, Stanley F.; Masri, Amira; Alkazaleh, Fawaz; Guerra, Deanna; Ferrari, Paola; Nanda, Arti; Rajab, Anna; Markie, David; Gray, Mary; Nelson, John; Grix, Arthur; Sommer, Annemarie; Savarirayan, Ravi; Janecke, Andreas R.; Steichen, Elisabeth; Sillence, David; Haußer, Ingrid; Budde, Birgit; Nürnberg, Gudrun; Nürnberg, Peter; Seemann, Petra; Kunkel, Désirée; Zambruno, Giovanna; Dallapiccola, Bruno; Schuelke, Markus; Robertson, Stephen; Hamamy, Hanan; Wollnik, Bernd; Van Maldergem, Lionel; Mundlos, Stefan; Kornak, Uwe
Date of Publication (YYYY-MM-DD): 2009-09
Title of Journal: Nature Genetics
Volume: 41
Start Page: 1016
End Page: 1021
Document Type: Article
ID: 447542.0
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival
Authors: Hucthagowder, Vishwanathan; Morava, Eva; Kornak, Uwe; Lefeber, Dirk J.; Fischer, Björn; Dimopoulou, Aikaterini; Aldinger, Annika; Choi, Jiwon; Davis, Elaine C.; Abuelo, Dianne N.; Adamowicz, Maciej; Al-Aama, Jumana; Basel-Vanagaite, Lina; Fernandez, Bridget; Greally, Marie T.; Gillessen-Kaesbach, Gabriele; Kayserili, Hulya; Lemyre, Emmanuelle; Tekin, Mustafa; Türkmen, Seval; Tuysuz, Beyhan; Yüksel-Konuk, Berrin; Mundlos, Stefan; Van Maldergem, Lionel; Wevers, Ron A.; Urban, Zsolt
Date of Publication (YYYY-MM-DD): 2009-06
Title of Journal: Human Molecular Genetics
Volume: 18
Issue / Number: 12
Start Page: 2149
End Page: 2165
Document Type: Article
ID: 447495.0
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
Authors: Kornak, Uwe; Reynders, Ellen; Dimopoulou, Aikaterini; van Reeuwijk, Jeroen; Fischer, Bjoern; Rajab, Anna; Budde, Birgit; Nürnberg, Peter; Foulquier, Francois; Lefeber, Dirk; Urban, Zsolt; Gruenewald, Stephanie; Annaert, Wim; Brunner, Han G; van Bokhoven, Hans; Wevers, Ron; Morava, Eva; Matthijs, Gert; Van Maldergem, Lionel; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2008-01
Title of Journal: Nature Genetics
Volume: 40
Issue / Number: 1
Start Page: 32
End Page: 34
Document Type: Article
ID: 411701.0
 
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