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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 4
2026
Lopriore, Piervito 
ORCID: https://orcid.org/0000-0002-9789-3129; Ünlütürk, Zeynep ORCID: https://orcid.org/0000-0003-3236-6712; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Karaa, Amel ORCID: https://orcid.org/0000-0001-5781-9824; Rouzier, Cecile ORCID: https://orcid.org/0000-0002-2969-1904; Domínguez-González, Cristina ORCID: https://orcid.org/0000-0001-5151-988X; Lamperti, Costanza ORCID: https://orcid.org/0000-0002-2280-2253; Mancuso, Michelangelo ORCID: https://orcid.org/0000-0003-2738-8562; Cecchi, Giulia; Montano, Vincenzo ORCID: https://orcid.org/0000-0002-7548-7699; Siciliano, Gabriele ORCID: https://orcid.org/0000-0002-6142-2384; Nicoletta, Valeria ORCID: https://orcid.org/0009-0006-3630-3726; Maioli, Mariantonietta; Primiano, Guido ORCID: https://orcid.org/0000-0001-7616-7008; Servidei, Serenella ORCID: https://orcid.org/0000-0001-8478-2799; La Morgia, Chiara ORCID: https://orcid.org/0000-0002-4639-8929; Carelli, Valerio ORCID: https://orcid.org/0000-0003-4923-6404; Valentino, Maria Lucia ORCID: https://orcid.org/0000-0001-5323-0115; Caporali, Leonardo ORCID: https://orcid.org/0000-0002-0666-4380; Arena, Ignazio Giuseppe; Musumeci, Olimpia ORCID: https://orcid.org/0000-0002-9208-1527; Lopergolo, Diego ORCID: https://orcid.org/0000-0003-2256-0482; Malandrini, Alessandro ORCID: https://orcid.org/0000-0003-1034-0845; Gallus, Gian Nicola ORCID: https://orcid.org/0000-0001-5801-223X; Filosto, Massimiliano ORCID: https://orcid.org/0000-0002-2852-7512; Bello, Luca ORCID: https://orcid.org/0000-0002-3075-6525; Pegoraro, Elena ORCID: https://orcid.org/0000-0002-7740-4156; Comi, Giacomo Pietro ORCID: https://orcid.org/0000-0002-1383-5248; Magri, Francesca ORCID: https://orcid.org/0000-0001-8974-9453; Ronchi, Dario ORCID: https://orcid.org/0000-0002-6093-9816; Di Fonzo, Alessio ORCID: https://orcid.org/0000-0001-6478-026X; Percetti, Marco; Azzimonti, Matteo ORCID: https://orcid.org/0009-0008-7333-6046; Büchner, Boriana ORCID: https://orcid.org/0000-0002-1241-3684; Prokisch, Holger ORCID: https://orcid.org/0000-0003-2379-6286; Bermejo-Guerrero, Laura ORCID: https://orcid.org/0000-0002-8349-715X; Procaccio, Vincent; Gaignard, Pauline ORCID: https://orcid.org/0000-0002-9520-2013; Echaniz-Laguna, Andoni ORCID: https://orcid.org/0000-0003-1012-9783; Schiff, Manuel ORCID: https://orcid.org/0000-0001-8272-232X; Rötig, Agnès ORCID: https://orcid.org/0000-0003-0589-0703; Toutain, Annick; Paquis-Flucklinger, Véronique; Morel, Godelieve; Robin, Stéphanie; Nadaj-Pakleza, Aleksandra ORCID: https://orcid.org/0009-0002-7212-3918; Chanson, Jean-Baptiste; Chaussenot, Annabelle; Ait-El-Mkadem Saadi, Samira; Trimouille, Aurélien; Tranchant, Christine ORCID: https://orcid.org/0000-0002-2895-1292; Salort-Campana, Emmanuelle ORCID: https://orcid.org/0000-0002-1846-3017; Bieth, Eric; Sacconi, Sabrina ORCID: https://orcid.org/0000-0002-0246-1455; Duval, Fanny; Restrepo Vera, Juan Luis; Molnar, Maria Judit; Vissing, John ORCID: https://orcid.org/0000-0001-6144-8544; Haas, Richard ORCID: https://orcid.org/0009-0001-4728-2792; Larson, Austin ORCID: https://orcid.org/0000-0002-2079-6929; Enns, Gregory M.; Parikh, Sumit ORCID: https://orcid.org/0000-0003-3712-8959; Goldstein, Amy ORCID: https://orcid.org/0000-0001-6593-5905 und Hirano, Michio ORCID: https://orcid.org/0000-0002-7070-7402
(2026):
Clinical and Genotypic Spectrum of Twinkle-Related Disorders.
In: Neurology, Bd. 106, Nr. 3, e214401
ORCID: https://orcid.org/0000-0002-9789-3129; Ünlütürk, Zeynep ORCID: https://orcid.org/0000-0003-3236-6712; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Karaa, Amel ORCID: https://orcid.org/0000-0001-5781-9824; Rouzier, Cecile ORCID: https://orcid.org/0000-0002-2969-1904; Domínguez-González, Cristina ORCID: https://orcid.org/0000-0001-5151-988X; Lamperti, Costanza ORCID: https://orcid.org/0000-0002-2280-2253; Mancuso, Michelangelo ORCID: https://orcid.org/0000-0003-2738-8562; Cecchi, Giulia; Montano, Vincenzo ORCID: https://orcid.org/0000-0002-7548-7699; Siciliano, Gabriele ORCID: https://orcid.org/0000-0002-6142-2384; Nicoletta, Valeria ORCID: https://orcid.org/0009-0006-3630-3726; Maioli, Mariantonietta; Primiano, Guido ORCID: https://orcid.org/0000-0001-7616-7008; Servidei, Serenella ORCID: https://orcid.org/0000-0001-8478-2799; La Morgia, Chiara ORCID: https://orcid.org/0000-0002-4639-8929; Carelli, Valerio ORCID: https://orcid.org/0000-0003-4923-6404; Valentino, Maria Lucia ORCID: https://orcid.org/0000-0001-5323-0115; Caporali, Leonardo ORCID: https://orcid.org/0000-0002-0666-4380; Arena, Ignazio Giuseppe; Musumeci, Olimpia ORCID: https://orcid.org/0000-0002-9208-1527; Lopergolo, Diego ORCID: https://orcid.org/0000-0003-2256-0482; Malandrini, Alessandro ORCID: https://orcid.org/0000-0003-1034-0845; Gallus, Gian Nicola ORCID: https://orcid.org/0000-0001-5801-223X; Filosto, Massimiliano ORCID: https://orcid.org/0000-0002-2852-7512; Bello, Luca ORCID: https://orcid.org/0000-0002-3075-6525; Pegoraro, Elena ORCID: https://orcid.org/0000-0002-7740-4156; Comi, Giacomo Pietro ORCID: https://orcid.org/0000-0002-1383-5248; Magri, Francesca ORCID: https://orcid.org/0000-0001-8974-9453; Ronchi, Dario ORCID: https://orcid.org/0000-0002-6093-9816; Di Fonzo, Alessio ORCID: https://orcid.org/0000-0001-6478-026X; Percetti, Marco; Azzimonti, Matteo ORCID: https://orcid.org/0009-0008-7333-6046; Büchner, Boriana ORCID: https://orcid.org/0000-0002-1241-3684; Prokisch, Holger ORCID: https://orcid.org/0000-0003-2379-6286; Bermejo-Guerrero, Laura ORCID: https://orcid.org/0000-0002-8349-715X; Procaccio, Vincent; Gaignard, Pauline ORCID: https://orcid.org/0000-0002-9520-2013; Echaniz-Laguna, Andoni ORCID: https://orcid.org/0000-0003-1012-9783; Schiff, Manuel ORCID: https://orcid.org/0000-0001-8272-232X; Rötig, Agnès ORCID: https://orcid.org/0000-0003-0589-0703; Toutain, Annick; Paquis-Flucklinger, Véronique; Morel, Godelieve; Robin, Stéphanie; Nadaj-Pakleza, Aleksandra ORCID: https://orcid.org/0009-0002-7212-3918; Chanson, Jean-Baptiste; Chaussenot, Annabelle; Ait-El-Mkadem Saadi, Samira; Trimouille, Aurélien; Tranchant, Christine ORCID: https://orcid.org/0000-0002-2895-1292; Salort-Campana, Emmanuelle ORCID: https://orcid.org/0000-0002-1846-3017; Bieth, Eric; Sacconi, Sabrina ORCID: https://orcid.org/0000-0002-0246-1455; Duval, Fanny; Restrepo Vera, Juan Luis; Molnar, Maria Judit; Vissing, John ORCID: https://orcid.org/0000-0001-6144-8544; Haas, Richard ORCID: https://orcid.org/0009-0001-4728-2792; Larson, Austin ORCID: https://orcid.org/0000-0002-2079-6929; Enns, Gregory M.; Parikh, Sumit ORCID: https://orcid.org/0000-0003-3712-8959; Goldstein, Amy ORCID: https://orcid.org/0000-0001-6593-5905 und Hirano, Michio ORCID: https://orcid.org/0000-0002-7070-7402
(2026):
Clinical and Genotypic Spectrum of Twinkle-Related Disorders.
In: Neurology, Bd. 106, Nr. 3, e214401
2024
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]
2023
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]
2022
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]