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Anzahl der Publikationen: 6
Zeitschriftenartikel
Blickhaeuser, Beryll; Stenton, Sarah L.; Neuhofer, Christiane M.; Floride, Elisa; Nesbitt, Victoria; Fratter, Carl; Koch, Johannes; Kauffmann, Birgit; Catarino, Claudia; Schlieben, Lea Dewi; Kopajtich, Robert; Carelli, Valerio; Sadun, Alfredo A.; McFarland, Robert; Fang, Fang; La Morgia, Chiara; Paquay, Stephanie; Nassogne, Marie Cecile; Ghezzi, Daniele; Lamperti, Costanza; Wortmann, Saskia; Poulton, Jo; Klopstock, Thomas und Prokisch, Holger
(2024):
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
In: Brain
[PDF, 555kB]
Karaa, Amel; MacMullen, Laura E. 
ORCID: https://orcid.org/0000-0003-2458-6889; Campbell, John C.; Christodoulou, John; Cohen, Bruce H.; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Koga, Yasutoshi; Lamperti, Costanza; Maanen, Robert van; McFarland, Robert; Parikh, Sumit; Rahman, Shamima; Scaglia, Fernando; Sherman, Alexander V.; Yeske, Philip und Falk, Marni J.
(2022):
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease.
In: Advanced Genetics, Bd. 3, Nr. 1, 2100047
[PDF, 878kB]
ORCID: https://orcid.org/0000-0003-2458-6889; Campbell, John C.; Christodoulou, John; Cohen, Bruce H.; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Koga, Yasutoshi; Lamperti, Costanza; Maanen, Robert van; McFarland, Robert; Parikh, Sumit; Rahman, Shamima; Scaglia, Fernando; Sherman, Alexander V.; Yeske, Philip und Falk, Marni J.
(2022):
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease.
In: Advanced Genetics, Bd. 3, Nr. 1, 2100047
[PDF, 878kB]
Ng, Yi Shiau; Bindoff, Laurence A.; Gorman, Grainne S.; Klopstock, Thomas; Kornblum, Cornelia; Mancuso, Michelangelo; McFarland, Robert; Sue, Carolyn M.; Suomalainen, Anu; Taylor, Robert W.; Thorburn, David R. und Turnbull, Doug M.
(2021):
Mitochondrial disease in adults: recent advances and future promise.
In: Lancet Neurology, Bd. 20, Nr. 7: S. 573-584
Ng, Yi Shiau; Bindoff, Laurence A.; Gorman, Grainne S.; Klopstock, Thomas; Kornblum, Cornelia; Mancuso, Michelangelo; McFarland, Robert; Sue, Carolyn M.; Suomalainen, Anu; Taylor, Robert W.; Thorburn, David R. und Turnbull, Doug M.
(2021):
Mitochondrial disease in adults: recent advances and future promise.
In: Lancet Neurology, Bd. 20, Nr. 7: S. 573-584
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 und Wortmann, Saskia
(2018):
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
In: Orphanet Journal of Rare Diseases
13:120
[PDF, 3MB]
Koene, Saskia; Hendriks, Jan C. M.; Dirks, Ilse; Boer, Lonneke de; Vries, Maaike C.; Janssen, Mirian C. H. de; Smuts, Izelle; Fung, Cheuk-Wing; Wong, Virginia C. N.; Coo, I. Rene F. M.; de Vill, Katharina; Stendel, Claudia; Klopstock, Thomas; Falk, Marni J.; McCormick, Elizabeth M.; McFarland, Robert; Groot, Imelda J. M. de und Smeitink, Jan A. M.
(2016):
International Paediatric Mitochondrial Disease Scale.
In: Journal of inherited Metabolic Disease, Bd. 39, Nr. 5: S. 705-712