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Anzahl der Publikationen: 4
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; 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]
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]