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Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2

Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients

2024 . Indelicato, Elisabetta | Schlieben, Lea D. | Stenton, Sarah L. | Boesch, Sylvia | Skorvanek, Matej | Necpal, Jan | Jech, Robert | Winkelmann, Juliane | Prokisch, Holger | Zech, Michael

Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies

2024 . Ferreira, Tomas | Polavarapu, Kiran | Olimpio, Catarina | Paramonov, Ida | Lochmüller, Hanns | Horvath, Rita

Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey

2023 . mancuso, michelangelo | Lopriore, Piervito | Lamperti, Costanza | Klopstock, Thomas | Rahman, Shamima | Licchetta, Laura | Kornblum, Cornelia | Wortmann, Saskia B. | Dollfus, Hélène | Papadopoulou, Maria T. | Arzimanoglou, Alexis | Scarpa, Maurizio | Graessner, Holm | Evangelista, Teresinha

POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature

2023 . Borsche, Max | Dulovic-Mahlow, Marija | Baumann, Hauke | Tunc, Sinem | Lüth, Theresa | Schaake, Susen | Özcakir, Selin | Westenberger, Ana | Münchau, Alexander | Knappe, Evelyn | Trinh, Joanne | Brüggemann, Norbert | Lohmann, Katja