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Publications by Ahting, Uwe

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Number of items: 6.

Journal article

Repp, Birgit M.; Mastantuono, Elisa; Alston, Charlotte L.; Schiff, Manuel; Haack, Tobias B.; Rotig, Agnes; Ardissone, Anna; Lombes, Anne; Catarino, Claudia B.; Diodato, Daria; Schottmann, Gudrun; Poulton, Joanna; Burlina, Alberto; Jonckheere, An; Munnich, Arnold; Rolinski, Boris; Ghezzi, Daniele; Rokicki, Dariusz; Wellesley, Diana; Martinelli, Diego; Wenhong, Ding; Lamantea, Eleonora; Ostergaard, Elsebet; Pronicka, Ewa; Pierre, Germaine; Smeets, Hubert J. M.; Wittig, Ilka; Scurr, Ingrid; Coo, Irenaeus F. M. de; Moroni, Isabella; Smet, Joel; Mayr, Johannes A.; Dai, Lifang; Meirleir, Linda de; Schülke, Markus; Zeviani, Massimo; Morscher, Raphael J.; McFarland, Robert; Seneca, Sara; Klopstock, Thomas; Meitinger, Thomas; Wieland, Thomas; Strom, Tim M.; Herberg, Ulrike; Ahting, Uwe; Sperl, Wolfgang; Nassogne, Marie-Cecile; Ling, Han; Fang, Fang; Freisinger, Peter; Coster, Rudy van; Strecker, Valentina; Taylor, Robert W.; Häberle, Johannes; Vockley, Jerry; Prokisch, Holger; Wortmann, Saskia (2018): Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? In: Orphanet Journal of Rare Diseases, Vol. 13, 120

Alhaddad, Bader; Schossig, Anna; Haack, Tobias B.; Kovacs-Nagy, Reka; Braunisch, Matthias C.; Makowski, Christine; Senderek, Jan; Vill, Katharina; Müller-Felber, Wolfgang; Strom, Tim M.; Krabichler, Birgit; Freisinger, Peter; Deshpande, Charu; Polster, Tilman; Wolf, Nicole; Desguerre, Isabelle; Wörmann, Friedrich; Rotig, Agnes; Ahting, Uwe; Kopajtich, Robert; Prokisch, Holger; Meitinger, Thomas; Feichtinger, Rene G.; Mayr, Johannes A.; Jungbluth, Heinz; Hubmann, Michael; Zschocke, Johannes; Distelmaier, Felix; Koch, Johannes (2018): PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum. In: Neuropediatrics, Vol. 49, No. 5: pp. 330-338

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. (2015): Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype. In: Orphanet Journal of Rare Diseases 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 (2014): 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 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 Tue Oct 15 06:12:20 2019 CEST.