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Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 7
Zeitschriftenartikel
Sonsalla, Giovanna; Malpartida, Ana Belen; Riedemann, Therese; Gusic, Mirjana; Rusha, Ejona; Bulli, Giorgia; Najas, Sonia; Janjic, Aleks; Hersbach, Bob A.; Smialowski, Pawel; Drukker, Micha; Enard, Wolfgang; Prehn, Jochen H. M.; Prokisch, Holger; Goetz, Magdalena und Masserdotti, Giacomo
(2024):
Direct neuronal reprogramming of NDUFS4 patient cells identifies the unfolded protein response as a novel general reprogramming hurdle.
In: Neuron, Bd. 112, Nr. 7
[PDF, 6MB]
Yepez, Vicente A.; Gusic, Mirjana; Kopajtich, Robert; Mertes, Christian; Smith, Nicholas H.; Alston, Charlotte L.; Ban, Rui; Beblo, Skadi; Berutti, Riccardo; Blessing, Holger; Ciara, Elzbieta; Distelmaier, Felix; Freisinger, Peter; Haeberle, Johannes; Hayflick, Susan J.; Hempel, Maja; Itkis, Yulia S.; Kishita, Yoshihito; Klopstock, Thomas; Krylova, Tatiana D.; Lamperti, Costanza; Lenz, Dominic; Makowski, Christine; Mosegaard, Signe; Mueller, Michaela F.; Munoz-Pujol, Gerard; Nadel, Agnieszka; Ohtake, Akira; Okazaki, Yasushi; Procopio, Elena; Schwarzmayr, Thomas; Smet, Joel; Staufner, Christian; Stenton, Sarah L.; Strom, Tim M.; Terrile, Caterina; Tort, Frederic; Coster, Rudy van; Vanlander, Arnaud; Wagner, Matias; Xu, Manting; Fang, Fang; Ghezzi, Daniele; Mayr, Johannes A.; Piekutowska-Abramczuk, Dorota; Ribes, Antonia; Roetig, Agnes; Taylor, Robert W.; Wortmann, Saskia B.; Murayama, Kei; Meitinger, Thomas; Gagneur, Julien und Prokisch, Holger
(2022):
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
In: Genome Medicine, Bd. 14, Nr. 1, 38
[PDF, 2MB]
Mertes, Christian; Scheller, Ines F.; Yepez, Vicente A.; Celik, Muhammed H.; Liang, Yingjiqiong; Kremer, Laura S.; Gusic, Mirjana; Prokisch, Holger und Gagneur, Julien
(2021):
Detection of aberrant splicing events in RNA-seq data using FRASER.
In: Nature Communications, Bd. 12, Nr. 1, 529
Yepez, Vicente A.; Mertes, Christian; Mueller, Michaela F.; Klaproth-Andrade, Daniela; Wachutka, Leonhard; Fresard, Laure; Gusic, Mirjana; Scheller, Ines F.; Goldberg, Patricia F.; Prokisch, Holger und Gagneur, Julien
(2021):
Detection of aberrant gene expression events in RNA sequencing data.
In: Nature Protocols, Bd. 16, Nr. 2
Danhauser, Katharina; Alhaddad, Bader; Makowski, Christine; Piekutowska-Abramczuk, Dorota; Syrbe, Steffen; Gomez-Ospina, Natalia; Manning, Melanie A.; Kostera-Pruszczyk, Anna; Krahn-Peper, Claudia; Berutti, Riccardo; Kovacs-Nagy, Reka; Gusic, Mirjana; Graf, Elisabeth; Laugwitz, Lucia; Roeblitz, Michaela; Wroblewski, Andreas; Hartmann, Hans; Das, Anibh M.; Bueltmann, Eva; Fang, Fang; Xu, Manting; Schatz, Ulrich A.; Karall, Daniela; Zellner, Herta; Haberlandt, Edda; Feichtinger, Rene G.; Mayr, Johannes A.; Meitinger, Thomas; Prokisch, Holger; Strom, Tim M.; Ploski, Rafal; Hoffmann, Georg F.; Pronicki, Maciej; Bonnen, Penelope E.; Morlot, Susanne und Haack, Tobias B.
(2018):
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
In: American Journal of Human Genetics, Bd. 103, Nr. 5: S. 817-825
Yepez, Vicente A.; Kremer, Laura S.; Iuso, Arcangela; Gusic, Mirjana; Kopajtich, Robert; Konarikova, Eliska; Nadel, Agnieszka; Wachutka, Leonhard; Prokisch, Holger und Gagneur, Julien
(2018):
OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer.
In: PLOS One 13(7), e0199938 [PDF, 3MB]
In: PLOS One 13(7), e0199938 [PDF, 3MB]
Catarino, Claudia B.; Ahting, Uwe; Gusic, Mirjana; Iuso, Arcangela; Repp, Birgit; Peters, Katrin; Biskup, Saskia; Livonius, Bettina von; Prokisch, Holger und Klopstock, Thomas
(2017):
Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G > A and m.14484T > C of the mitochondrial DNA.
In: Mitochondrion, Bd. 36: S. 15-20
