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Zeitschriftenartikel
Karaa, Amel 
ORCID: https://orcid.org/0000-0001-5781-9824; Bertini, Enrico; Carelli, Valerio; Cohen, Bruce; Ennes, Gregory M.; Falk, Marni J.; Goldstein, Amy; Gorman, Gráinne; Haas, Richard; Hirano, Michio; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Koenig, Mary Kay; Kornblum, Cornelia; Lamperti, Costanza; Lehman, Anna; Longo, Nicola; Molnar, Maria Judit; Parikh, Sumit; Phan, Han; Pitceathly, Robert D. S.; Saneto, Russekk; Scaglia, Fernando; Servidei, Serenella; Tarnopolsky, Mark; Toscano, Antonio; Hove, Johan L. K. Van; Vissing, John; Vockley, Jerry; Finman, Jeffrey S.; Abbruscato, Anthony; Brown, David A.; Sullivan, Alana; Shiffer, James A. und Mancuso, Michelango
(2024):
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.
In: Orphanet Journal of Rare Diseases, Bd. 19, 431
[PDF, 1MB]
ORCID: https://orcid.org/0000-0001-5781-9824; Bertini, Enrico; Carelli, Valerio; Cohen, Bruce; Ennes, Gregory M.; Falk, Marni J.; Goldstein, Amy; Gorman, Gráinne; Haas, Richard; Hirano, Michio; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Koenig, Mary Kay; Kornblum, Cornelia; Lamperti, Costanza; Lehman, Anna; Longo, Nicola; Molnar, Maria Judit; Parikh, Sumit; Phan, Han; Pitceathly, Robert D. S.; Saneto, Russekk; Scaglia, Fernando; Servidei, Serenella; Tarnopolsky, Mark; Toscano, Antonio; Hove, Johan L. K. Van; Vissing, John; Vockley, Jerry; Finman, Jeffrey S.; Abbruscato, Anthony; Brown, David A.; Sullivan, Alana; Shiffer, James A. und Mancuso, Michelango
(2024):
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.
In: Orphanet Journal of Rare Diseases, Bd. 19, 431
[PDF, 1MB]
Karaa, Amel; Bertini, Enrico; Carelli, Valerio; Cohen, Bruce H.; Enns, Gregory M.; Falk, Marni J.; Goldstein, Amy; Gorman, Grainne Siobhan; Haas, Richard; Hirano, Michio; Klopstock, Thomas; Koenig, Mary Kay; Kornblum, Cornelia; Lamperti, Costanza; Lehman, Anna; Longo, Nicola; Molnar, Maria Judit; Parikh, Sumit; Phan, Han; Pitceathly, Robert D. S.; Saneto, Russell; Scaglia, Fernando; Servidei, Serenella; Tarnopolsky, Mark; Toscano, Antonio; Van Hove, Johan L. K.; Vissing, John; Vockley, Jerry; Finman, Jeffrey S.; Brown, David A.; Shiffer, James A. und Mancuso, Michelango
(2023):
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy The MMPOWER-3 Randomized Clinical Trial.
In: Neurology, Bd. 101, Nr. 3, E238-E252
[PDF, 661kB]
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]
Stendel, Claudia; Neuhofer, Christiane; Floride, Elisa; Shi, Yuqing; Ganetzky, Rebecca D.; Park, Joohyun; Freisinger, Peter; Kornblum, Cornelia; Kleinle, Stephanie; Schoels, Ludger; Distelmaier, Felix; Stettner, Georg M.; Buechner, Boriana; Falk, Marni J.; Mayr, Johannes A.; Synofzik, Matthis; Abicht, Angela; Haack, Tobias B.; Prokisch, Holger; Wortmann, Saskia B.; Murayama, Kei; Fang, Fang und Klopstock, Thomas
(2020):
Delineating MT-ATP6-associated disease.
In: Neurology-Genetics, Bd. 6, Nr. 1, e393
[PDF, 543kB]
Ganetzky, Rebecca D.; Stendel, Claudia; McCormick, Elizabeth M.; Zolkipli-Cunningham, Zarazuela; Goldstein, Amy C.; Klopstock, Thomas und Falk, Marni J.
(2019):
MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.
In: Human Mutation, Bd. 40, Nr. 5: S. 499-515
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