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Number of items: 4.

Journal article

Catarino, Claudia B.; Ahting, Uwe; Gusic, Mirjana; Iuso, Arcangela; Repp, Birgit; Peters, Katrin; Biskup, Saskia; Livonius, Bettina von; Prokisch, Holger; Klopstock, Thomas (2017): Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G > A and m.14484T > C of the mitochondrial DNA. In: Mitochondrion, Vol. 36: pp. 15-20

Koch, Johannes; Freisinger, Peter; Feichtinger, Rene G.; Zimmermann, Franz A.; Rauscher, Christian; Wagentristl, Hans P.; Konstantopoulou, Vassiliki; Seidl, Rainer; Haack, Tobias B.; Prokisch, Holger; Ahting, Uwe; Sperl, Wolfgang; Mayr, Johannes A.; Maier, Esther M.: Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype. In: Orphanet Journal of Rare Diseases 2015, 10:40 [PDF, 2MB]

Haghighi, Alireza; Haack, Tobias B.; Atiq, Mehnaz; Mottaghi, Hassan; Haghighi-Kakhki, Hamidreza; Bashir, Rani A.; Ahting, Uwe; Feichtinger, Rene G.; Mayr, Johannes A.; Rötig, Agnes; Lebre, Anne-Sophie; Klopstock, Thomas; Dworschak, Andrea; Pulido, Nathan; Saeed, Mahmood A.; Saleh-Gohari, Nasrollah; Holzerova, Eliska; Chinnery, Patrick F.; Taylor, Robert W.; Prokisch, Holger: Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients. In: Orphanet Journal of Rare Diseases 2014, 9:119 [PDF, 2MB]

Haack, Tobias B.; Haberberger, Birgit; Frisch, Eva-Maria; Wieland, Thomas; Iuso, Arcangela; Gorza, Matteo; Strecker, Valentina; Graf, Elisabeth; Mayr, Johannes A.; Herberg, Ulrike; Hennermann, Julia B.; Klopstock, Thomas; Kuhn, Klaus A.; Ahting, Uwe; Sperl, Wolfgang; Wilichowski, Ekkehard; Hoffmann, Georg F.; Tesarova, Marketa; Hansikova, Hana; Zeman, Jiri; Plecko, Barbara; Zeviani, Massimo; Wittig, Ilka; Strom, Tim M.; Schuelke, Markus; Freisinger, Peter; Meitinger, Thomas; Prokisch, Holger (April 2012): Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. In: Journal of medical genetics, Vol. 49, No. 4: pp. 277-283 [PDF, 372kB]

This list was generated on Sat Apr 20 23:19:06 2019 CEST.