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Lenz, Dominic; Schlieben, Lea D; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Rüdiger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan Eksi; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Burnytė, Birutė; Calvo, Pier Luigi; Crushell, Ellen; Dalgıç, Buket; Das, Anibh M; ... (2024). Genetic landscape of pediatric acute liver failure of indeterminate origin. Hepatology, 79(5), pp. 1075-1087. Wiley 10.1097/HEP.0000000000000684
Straccia, Giulia; Reale, Chiara; Castellani, Massimo; Colangelo, Isabel; Orunesu, Eva; Meoni, Sara; Moro, Elena; Krack, Paul; Prokisch, Holger; Zech, Michael; Romito, Luigi Michele; Garavaglia, Barbara (2022). ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome. Parkinsonism & related disorders, 104, pp. 3-6. Elsevier 10.1016/j.parkreldis.2022.09.012
Castaneda, Andy B; Petty, Lauren E; Scholz, Markus; Jansen, Rick; Weiss, Stefan; Zhang, Xiaoling; Schramm, Katharina; Beutner, Frank; Kirsten, Holger; Schminke, Ulf; Hwang, Shih-Jen; Marzi, Carola; Dhana, Klodian; Seldenrijk, Adrie; Krohn, Knut; Homuth, Georg; Wolf, Petra; Peters, Marjolein J; Dörr, Marcus; Peters, Annette; ... (2022). Associations of carotid intima media thickness with gene expression in whole blood and genetically predicted gene expression across 48 tissues. Human molecular genetics, 31(7), pp. 1171-1182. Oxford University Press 10.1093/hmg/ddab236
Illsinger, Sabine; Korenke, G Christoph; Boesch, Sylvia; Nocker, Michael; Karall, Daniela; Nuoffer, Jean M.; Laugwitz, Lucia; Mayr, Johannes A; Scholl-Bürgi, Sabine; Freisinger, Peter; Kowald, Tobias; Kölker, Stefan; Prokisch, Holger; Haack, Tobias B (2020). Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches. European journal of medical genetics, 63(11), p. 104046. Elsevier 10.1016/j.ejmg.2020.104046
Anikster, Yair; Haack, Tobias B.; Vilboux, Thierry; Pode-Shakked, Ben; Thöny, Beat; Shen, Nan; Guarani, Virginia; Meissner, Thomas; Mayatepek, Ertan; Trefz, Friedrich K.; Marek-Yagel, Dina; Martinez, Aurora; Huttlin, Edward L.; Paulo, Joao A.; Berutti, Riccardo; Benoist, Jean-François; Imbard, Apolline; Dorboz, Imen; Heimer, Gali; Landau, Yuval; ... (2017). Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. American journal of human genetics, 100(2), pp. 257-266. Cell Press 10.1016/j.ajhg.2017.01.002
Wortmann, Saskia; Mayr, Johannes; Nuoffer, Jean-Marc; Prokisch, Holger; Sperl, Wolfgang (2017). A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era. Neuropediatrics, 48(04), pp. 309-314. Thieme 10.1055/s-0037-1603776
Haack, Tobias B; Jackson, Christopher; Murayama, Kei; Kremer, Laura S; Schaller, André; Kotzaeridou, Urania; de Vries, Maaike C; Schottmann, Gudrun; Santra, Saikat; Büchner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Seila; Ohtake, Akira; Okazaki, Yasushi; Kohda, Masakazu; Kishita, Yoshihito; Tokuzawa, Yoshimi; Sauer, Sascha; ... (2015). Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Annals of Clinical and Translational Neurology, 2(5), pp. 492-509. Wiley 10.1002/acn3.189
Jackson, Christopher; Nuoffer, Jean-Marc; Hahn, Dagmar Karen; Prokisch, Holger; Haberberger, Birgit; Gautschi, Matthias; Haeberli, Annemarie; Gallati, Sabina; Schaller, André (2013). Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. Journal of medical genetics, 51(3), pp. 170-175. BMJ Publishing Group 10.1136/jmedgenet-2013-101932
Oexle, Konrad; Schormair, Barbara; Ried, Janina S.; Czamara, Darina; Heim, Katharina; Frauscher, Birgit; Högl, Birgit; Trenkwalder, Claudia; Fiedler, G. Martin; Thiery, Joachim; Lichtner, Peter; Prokisch, Holger; Specht, Michael; Müller-Myhsok, Bertram; Döring, Angela; Gieger, Christian; Peters, Annette; Wichmann, H.-Erich; Meitinger, Thomas and Winkelmann, Juliane (2013). Dilution of candidates: the case of iron-related genes in restless legs syndrome. European journal of human genetics, 21(4), pp. 410-414. Nature Publishing Group 10.1038/ejhg.2012.193
