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Anzahl der Publikationen: 14
Zeitschriftenartikel
Mancuso, Michelangelo; Papadopoulou, Maria T.; Ng, Yi Shiau; Ardissone, Anna; Bellusci, Marcello; Bertini, Enrico; Di Vito, Lidia; Evangelista, Teresinha; Fons, Carmen; Hikmat, Omar; Horvath, Rita; Klopstock, Thomas; Kornblum, Cornelia; Lamperti, Costanza; Licchetta, Laura; Molnar, Maria Judit; Varhaug, Kristin N.; O'Callaghan, Mar; Pressler, Ronit M.; Schiff, Manuel; Servidei, Serenella; Szabo, Nora; Gorman, Grainne S.; Cross, J. Helen und Rahman, Shamima
(2024):
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
In: European Journal of Neurology
[PDF, 3MB]
Mancuso, Michelangelo; Lopriore, Piervito; Lamperti, Costanza; Klopstock, Thomas; Rahman, Shamima; Licchetta, Laura; Kornblum, Cornelia; Wortmann, Saskia B.; Dollfus, Helene; Papadopoulou, Maria T.; Arzimanoglou, Alexis; Scarpa, Maurizio; Graessner, Holm und Evangelista, Teresinha
(2024):
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey.
In: Journal of Neurology, Bd. 271, Nr. 2: S. 835-840
[PDF, 2MB]
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]
Drovandi, Stefania; Lipska-Zietkiewicz, Beata S.; Ozaltin, Fatih; Emma, Francesco; Gulhan, Bora; Boyer, Olivia; Trautmann, Agnes; Zietkiewicz, Szymon; Xu, Hong; Shen, Qian; Rao, Jia; Riedhammer, Korbinian M.; Heemann, Uwe; Hoefele, Julia; Stenton, Sarah L.; Tsygin, Alexey N.; Ng, Kar-Hui; Fomina, Svitlana; Benetti, Elisa; Aurelle, Manon; Prikhodina, Larisa; Schijvens, Anne M.; Tabatabaeifar, Mansoureh; Jankowski, Maciej; Baiko, Sergey; Mao, Jianhua; Feng, Chunyue; Deng, Fang; Rousset-Rouviere, Caroline; Stanczyk, Malgorzata; Balasz-Chmielewska, Irena; Fila, Marc; Durkan, Anne M.; Levart, Tanja Kersnik; Dursun, Ismail; Esfandiar, Nasrin; Haas, Dorothea; Bjerre, Anna; Anarat, Ali; Benz, Marcus R.; Talebi, Saeed; Hooman, Nakysa; Ariceta, Gema; Serna Higuita, Lina Maria; Schaefer, Franz; Trautmann, Agnes; Tabatabaeifar, Mansoureh; Gheissari, Alaleh; Hooman, Nakysa; Benetti, Elisa; Emma, Francesco; Nigmatullina, Nazym; Tkaczyk, Marcin; Borzecka, Halina; Tsygin, Alexey N.; Prikhodina, Larisa; Bogdanovic, Radovan; Mir, Sevgi; Fomina, Svitlana; Klopstock, Thomas; Prokisch, Holger; Kornblum, Cornelia; Liu, Cui-Hua; Sun, Shu-Zhen; Dong, Yang; Wang, Xiao-Wen; Luan, Jiang-Wei und Schaefer, Franz
(2022):
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.
In: Kidney International, Bd. 102, Nr. 3: S. 592-603
Deschauer, Marcus; Hengel, Holger; Rupprich, Katrin; Kreiss, Martina; Schlotter-Weigel, Beate; Grimmel, Mona; Admard, Jakob; Schneider, Ilka; Alhaddad, Bader; Gazou, Anastasia; Sturm, Marc; Vorgerd, Matthias; Balousha, Ghassan; Balousha, Osama; Falna, Mohammed; Kirschke, Jan S.; Kornblum, Cornelia; Jordan, Berit; Kraya, Torsten; Strom, Tim M.; Weis, Joachim; Schoels, Ludger; Schara, Ulrike; Zierz, Stephan; Riess, Olaf; Meitinger, Thomas und Haack, Tobias B.
(2021):
Bi-allelic truncating mutations in VWA1 cause neuromyopathy.
In: Brain, Bd. 144: S. 574-583
Klopstock, Thomas; Priglinger, Claudia; Yilmaz, Ali; Kornblum, Cornelia; Distelmaier, Felix und Prokisch, Holger
(2021):
Mitochondrial Disorders.
In: Deutsches Ärzteblatt International, Bd. 118, Nr. 44: S. 741-748
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
Stenton, Sarah L.; Sheremet, Natalia L.; Catarino, Claudia B.; Andreeva, Natalia A.; Assouline, Zahra; Barboni, Piero; Barel, Ortal; Berutti, Riccardo; Bychkov, Igor; Caporali, Leonardo; Capristo, Mariantonietta; Carbonelli, Michele; Cascavilla, Maria L.; Issa, Peter Charbel; Freisinger, Peter; Gerber, Sylvie; Ghezzi, Daniele; Graf, Elisabeth; Heidler, Juliana; Hempel, Maja; Heon, Elise; Itkis, Yulya S.; Javasky, Elisheva; Kaplan, Josseline; Kopajtich, Robert; Kornblum, Cornelia; Kovacs-Nagy, Reka; Krylova, Tatiana D.; Kunz, Wolfram S.; La Morgia, Chiara; Lamperti, Costanza; Ludwig, Christina; Malacarne, Pedro F.; Maresca, Alessandra; Mayr, Johannes A.; Meisterknecht, Jana; Nevinitsyna, Tatiana A.; Palombo, Flavia; Pode-Shakked, Ben; Shmelkova, Maria S.; Strom, Tim M.; Tagliavini, Francesca; Tzadok, Michal; Ven, Amelie T. van der; Vignal-Clermont, Catherine; Wagner, Matias; Zakharova, Ekaterina Y.; Zhorzholadze, Nino V.; Rozet, Jean-Michel; Carelli, Valerio; Tsygankova, Polina G.; Klopstock, Thomas 
ORCID: https://orcid.org/0000-0003-2805-4652; Wittig, Ilka und Prokisch, Holger
(2021):
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
In: Journal of Clinical Investigation, Bd. 131, Nr. 6, e138267
[PDF, 6MB]
ORCID: https://orcid.org/0000-0003-2805-4652; Wittig, Ilka und Prokisch, Holger
(2021):
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
In: Journal of Clinical Investigation, Bd. 131, Nr. 6, e138267
[PDF, 6MB]
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
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]
Schoser, Benedikt; Montagnese, Federica; Bassez, Guillaume; Fossati, Barbara; Gamez, Josep; Heatwole, Chad; Hilbert, James; Kornblum, Cornelia; Kostera-Pruszczyk, Anne; Krahe, Ralf; Lusakowska, Anna; Meola, Giovanni; Moxley, Richard; Thornton, Charles; Udd, Bjarne und Formaker, Paul
(2019):
Consensus-based care recommendations for adults with myotonic dystrophy type 2.
In: Neurology-Clinical Practice, Bd. 9, Nr. 4: S. 343-353
Bax, Bridget E.; Levene, Michelle; Bain, Murray D.; Fairbanks, Lynette D.; Filosto, Massimiliano; Ucar, Sema Kalkan; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Kornblum, Cornelia; Mandel, Hanna; Rahman, Shamima; Roubertie, Agathe; Scarpelli, Mauro; Sedgwick, Philip M.; Baru, Moshe; Sellos-Moura, Marcia; Price, Jeanie; Horn, Patrick und Nirmalananthan, Niranjanan
(2019):
Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial.
In: Journal of Clinical Medicine, Bd. 8, Nr. 8, 1096
[PDF, 1MB]
ORCID: https://orcid.org/0000-0003-2805-4652; Kornblum, Cornelia; Mandel, Hanna; Rahman, Shamima; Roubertie, Agathe; Scarpelli, Mauro; Sedgwick, Philip M.; Baru, Moshe; Sellos-Moura, Marcia; Price, Jeanie; Horn, Patrick und Nirmalananthan, Niranjanan
(2019):
Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial.
In: Journal of Clinical Medicine, Bd. 8, Nr. 8, 1096
[PDF, 1MB]
Clemen, Christoph S.; Winter, Lilli; Strucksberg, Karl-Heinz; Berwanger, Carolin; Türk, Matthias; Kornblum, Cornelia; Florin, Alexandra; Aguilar-Pimentel, Juan Antonio; Amarie, Oana Veronica; Becker, Lore; Garrett, Lillian; Hans, Wolfgang; Moreth, Kristin; Neff, Frauke; Pingen, Laura; Rathkolb, Birgit; Rácz, Ildikó; Rozman, Jan; Treise, Irina; Fuchs, Helmut; Gailus-Durner, Valerie; Hrabe de Angelis, Martin; Vorgerd, Matthias; Eichinger, Ludwig und Schröder, Rolf
(2018):
The heterozygous R155C VCP mutation: Toxic in humans! Harmless in mice?
In: Biochemical and Biophysical Research Communications, Bd. 503, Nr. 4: S. 2770-2777
Altmann, Judith; Büchner, Boriana; Nadaj-Pakleza, Aleksandra; Schäfer, Jochen; Jackson, Sandra; Lehmann, Diana; Deschauer, Marcus; Kopajtich, Robert; Lautenschläger, Ronald; Kuhn, Klaus A.; Karle, Kathrin; Schöls, Ludger; Schulz, Jörg B.; Weis, Joachim; Prokisch, Holger; Kornblum, Cornelia; Claeys, Kristl G. und Klopstock, Thomas
(2016):
Expanded phenotypic spectrum of the m.8344A > G "MERRF" mutation: data from the German mitoNET registry.
In: Journal of Neurology, Bd. 263, Nr. 5: S. 961-972