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Nature communications, 2017-06, Vol.8 (1), p.15824-11, Article 15824
- Kremer, Laura S
- Bader, Daniel M
- Mertes, Christian
- Kopajtich, Robert
- Pichler, Garwin
- Iuso, Arcangela
- Haack, Tobias B
- Graf, Elisabeth
- Schwarzmayr, Thomas
- Terrile, Caterina
- Koňaříková, Eliška
- Repp, Birgit
- Kastenmüller, Gabi
- Adamski, Jerzy
- Lichtner, Peter
- Leonhardt, Christoph
- Funalot, Benoit
- Donati, Alice
- Tiranti, Valeria
- Lombes, Anne
- Jardel, Claude
- Gläser, Dieter
- Taylor, Robert W
- Ghezzi, Daniele
- Mayr, Johannes A
- Rötig, Agnes
- Freisinger, Peter
- Distelmaier, Felix
- Strom, Tim M
- Meitinger, Thomas
- Gagneur, Julien
- Prokisch, Holger
2017
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PloS one, 2018-07, Vol.13 (7), p.e0199938-e0199938
2018
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Journal of neurology, 2016-05, Vol.263 (5), p.961-972
2016
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American journal of human genetics, 2014-12, Vol.95 (6), p.689-697
- Synofzik, Matthis
- Haack, Tobias B.
- Kopajtich, Robert
- Gorza, Matteo
- Rapaport, Doron
- Greiner, Markus
- Schönfeld, Caroline
- Freiberg, Clemens
- Schorr, Stefan
- Holl, Reinhard W.
- Gonzalez, Michael A.
- Fritsche, Andreas
- Fallier-Becker, Petra
- Zimmermann, Richard
- Strom, Tim M.
- Meitinger, Thomas
- Züchner, Stephan
- Schüle, Rebecca
- Schöls, Ludger
- Prokisch, Holger
2014
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Nature cell biology, 2005-09, Vol.7 (9), p.887-893
2005
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Human mutation, 2021-03, Vol.42 (3), p.310-319
2021
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Nature cell biology, 2007-04, Vol.9 (4), p.436-444
2007
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The Journal of cell biology, 2003-09, Vol.162 (5), p.863-875
2003
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Current biology, 2006-02, Vol.16 (3), p.301-307
2006
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The Journal of cell biology, 2001-12, Vol.155 (6), p.877-883
2001
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Pediatric research, 2023-03, Vol.93 (4), p.740-743
2023
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Mitochondrion, 2022-01, Vol.62, p.13-23
2022
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Methods in molecular biology (Clifton, N.J.), 2017-01, Vol.1567, p.379
2017
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The Journal of clinical investigation, 2020-01, Vol.130 (1), p.108-125
- Del Dotto, Valentina
- Ullah, Farid
- Di Meo, Ivano
- Magini, Pamela
- Gusic, Mirjana
- Maresca, Alessandra
- Caporali, Leonardo
- Palombo, Flavia
- Tagliavini, Francesca
- Baugh, Evan Harris
- Macao, Bertil
- Szilagyi, Zsolt
- Peron, Camille
- Gustafson, Margaret A
- Khan, Kamal
- La Morgia, Chiara
- Barboni, Piero
- Carbonelli, Michele
- Valentino, Maria Lucia
- Liguori, Rocco
- Shashi, Vandana
- Sullivan, Jennifer
- Nagaraj, Shashi
- El-Dairi, Mays
- Iannaccone, Alessandro
- Cutcutache, Ioana
- Bertini, Enrico
- Carrozzo, Rosalba
- Emma, Francesco
- Diomedi-Camassei, Francesca
- Zanna, Claudia
- Armstrong, Martin
- Page, Matthew
- Stong, Nicholas
- Boesch, Sylvia
- Kopajtich, Robert
- Wortmann, Saskia
- Sperl, Wolfgang
- Davis, Erica E
- Copeland, William C
- Seri, Marco
- Falkenberg, Maria
- Prokisch, Holger
- Katsanis, Nicholas
- Tiranti, Valeria
- Pippucci, Tommaso
- Carelli, Valerio
2020
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Genetics in medicine, 2020-03, Vol.22 (3), p.610-621
- Staufner, Christian
- Peters, Bianca
- Wagner, Matias
- Alameer, Seham
- Barić, Ivo
- Broué, Pierre
- Bulut, Derya
- Church, Joseph A.
- Crushell, Ellen
- Dalgıç, Buket
- Das, Anibh M.
- Dick, Anke
- Dikow, Nicola
- Dionisi-Vici, Carlo
- Distelmaier, Felix
- Bozbulut, Neslihan Ekşi
- Feillet, François
- Gonzales, Emmanuel
- Hadzic, Nedim
- Hauck, Fabian
- Hegarty, Robert
- Hempel, Maja
- Herget, Theresia
- Klein, Christoph
- Konstantopoulou, Vassiliki
- Kopajtich, Robert
- Kuster, Alice
- Laass, Martin W.
- Lainka, Elke
- Larson-Nath, Catherine
- Leibner, Alexander
- Lurz, Eberhard
- Mayr, Johannes A.
- McKiernan, Patrick
- Mention, Karine
- Moog, Ute
- Mungan, Neslihan Onenli
- Riedhammer, Korbinian M.
- Santer, René
- Palafoll, Irene Valenzuela
- Vockley, Jerry
- Westphal, Dominik S.
- Wiedemann, Arnaud
- Wortmann, Saskia B.
- Diwan, Gaurav D.
- Russell, Robert B.
- Prokisch, Holger
- Garbade, Sven F.
- Kölker, Stefan
- Hoffmann, Georg F.
- Lenz, Dominic
2020
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American journal of human genetics, 2014-12, Vol.95 (6), p.708-720
- Kopajtich, Robert
- Nicholls, Thomas J.
- Rorbach, Joanna
- Metodiev, Metodi D.
- Freisinger, Peter
- Mandel, Hanna
- Vanlander, Arnaud
- Ghezzi, Daniele
- Carrozzo, Rosalba
- Taylor, Robert W.
- Marquard, Klaus
- Murayama, Kei
- Wieland, Thomas
- Schwarzmayr, Thomas
- Mayr, Johannes A.
- Pearce, Sarah F.
- Powell, Christopher A.
- Saada, Ann
- Ohtake, Akira
- Invernizzi, Federica
- Lamantea, Eleonora
- Sommerville, Ewen W.
- Pyle, Angela
- Chinnery, Patrick F.
- Crushell, Ellen
- Okazaki, Yasushi
- Kohda, Masakazu
- Kishita, Yoshihito
- Tokuzawa, Yoshimi
- Assouline, Zahra
- Rio, Marlène
- Feillet, François
- Mousson de Camaret, Bénédict
- Chretien, Dominique
- Munnich, Arnold
- Menten, Björn
- Sante, Tom
- Smet, Joél
- Régal, Luc
- Lorber, Abraham
- Khoury, Asaad
- Zeviani, Massimo
- Strom, Tim M.
- Meitinger, Thomas
- Bertini, Enrico S.
- Van Coster, Rudy
- Klopstock, Thomas
- Rötig, Agnès
- Haack, Tobias B.
- Minczuk, Michal
- Prokisch, Holger
2014
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Parkinsonism & related disorders, 2022-04, Vol.97, p.52-56
2022
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American journal of human genetics, 2017-10, Vol.101 (4), p.525-538
- Feichtinger, René G.
- Oláhová, Monika
- Kishita, Yoshihito
- Garone, Caterina
- Kremer, Laura S.
- Yagi, Mikako
- Uchiumi, Takeshi
- Jourdain, Alexis A.
- Thompson, Kyle
- D’Souza, Aaron R.
- Kopajtich, Robert
- Alston, Charlotte L.
- Koch, Johannes
- Sperl, Wolfgang
- Mastantuono, Elisa
- Strom, Tim M.
- Wortmann, Saskia B.
- Meitinger, Thomas
- Pierre, Germaine
- Chinnery, Patrick F.
- Chrzanowska-Lightowlers, Zofia M.
- Lightowlers, Robert N.
- DiMauro, Salvatore
- Calvo, Sarah E.
- Mootha, Vamsi K.
- Moggio, Maurizio
- Sciacco, Monica
- Comi, Giacomo P.
- Ronchi, Dario
- Murayama, Kei
- Ohtake, Akira
- Rebelo-Guiomar, Pedro
- Kohda, Masakazu
- Kang, Dongchon
- Mayr, Johannes A.
- Taylor, Robert W.
- Okazaki, Yasushi
- Minczuk, Michal
- Prokisch, Holger
2017
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American journal of human genetics, 2013-08, Vol.93 (2), p.211-223
- Haack, Tobias B.
- Kopajtich, Robert
- Freisinger, Peter
- Wieland, Thomas
- Rorbach, Joanna
- Nicholls, Thomas J.
- Baruffini, Enrico
- Walther, Anett
- Danhauser, Katharina
- Zimmermann, Franz A.
- Husain, Ralf A.
- Schum, Jessica
- Mundy, Helen
- Ferrero, Ileana
- Strom, Tim M.
- Meitinger, Thomas
- Taylor, Robert W.
- Minczuk, Michal
- Mayr, Johannes A.
- Prokisch, Holger
2013
Link zum Volltext
American journal of human genetics, 2024-03, Vol.111 (3), p.594-613
- Brugger, Melanie
- Lauri, Antonella
- Zhen, Yan
- Gramegna, Laura L.
- Zott, Benedikt
- Sekulić, Nikolina
- Fasano, Giulia
- Kopajtich, Robert
- Cordeddu, Viviana
- Radio, Francesca Clementina
- Mancini, Cecilia
- Pizzi, Simone
- Paradisi, Graziamaria
- Zanni, Ginevra
- Vasco, Gessica
- Carrozzo, Rosalba
- Palombo, Flavia
- Tonon, Caterina
- Lodi, Raffaele
- La Morgia, Chiara
- Arelin, Maria
- Blechschmidt, Cristiane
- Finck, Tom
- Sørensen, Vigdis
- Kreiser, Kornelia
- Strobl-Wildemann, Gertrud
- Daum, Hagit
- Michaelson-Cohen, Rachel
- Ziccardi, Lucia
- Zampino, Giuseppe
- Prokisch, Holger
- Abou Jamra, Rami
- Fiorini, Claudio
- Arzberger, Thomas
- Winkelmann, Juliane
- Caporali, Leonardo
- Carelli, Valerio
- Stenmark, Harald
- Tartaglia, Marco
- Wagner, Matias
2024
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Annals of neurology, 2022-02, Vol.91 (2), p.225-237
- Zech, Michael
- Kopajtich, Robert
- Steinbrücker, Katja
- Bris, Céline
- Gueguen, Naig
- Feichtinger, René G.
- Achleitner, Melanie T.
- Duzkale, Neslihan
- Périvier, Maximilien
- Koch, Johannes
- Engelhardt, Harald
- Freisinger, Peter
- Wagner, Matias
- Brunet, Theresa
- Berutti, Riccardo
- Smirnov, Dmitrii
- Navaratnarajah, Tharsini
- Rodenburg, Richard J.T.
- Pais, Lynn S
- Austin‐Tse, Christina
- O'Leary, Melanie
- Boesch, Sylvia
- Jech, Robert
- Bakhtiari, Somayeh
- Jin, Sheng Chih
- Wilbert, Friederike
- Kruer, Michael C
- Wortmann, Saskia B.
- Eckenweiler, Matthias
- Mayr, Johannes A.
- Distelmaier, Felix
- Steinfeld, Robert
- Winkelmann, Juliane
- Prokisch, Holger
2022
Link zum Volltext
American journal of human genetics, 2019-07, Vol.105 (1), p.108-121
- Cousin, Margot A.
- Conboy, Erin
- Wang, Jian-She
- Lenz, Dominic
- Schwab, Tanya L.
- Williams, Monique
- Abraham, Roshini S.
- Barnett, Sarah
- El-Youssef, Mounif
- Graham, Rondell P.
- Gutierrez Sanchez, Luz Helena
- Hasadsri, Linda
- Hoffmann, Georg F.
- Hull, Nathan C.
- Kopajtich, Robert
- Kovacs-Nagy, Reka
- Li, Jia-qi
- Marx-Berger, Daniela
- McLin, Valérie
- McNiven, Mark A.
- Mounajjed, Taofic
- Prokisch, Holger
- Rymen, Daisy
- Schulze, Ryan J.
- Staufner, Christian
- Yang, Ye
- Clark, Karl J.
- Lanpher, Brendan C.
- Klee, Eric W.
2019
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Genetics in medicine, 2023-12, Vol.25 (12), p.100971-100971, Article 100971
- Poggio, Elena
- Barazzuol, Lucia
- Salmaso, Andrea
- Milani, Celeste
- Deligiannopoulou, Adamantia
- Cazorla, Ángeles García
- Jang, Se Song
- Juliá-Palacios, Natalia
- Keren, Boris
- Kopajtich, Robert
- Lynch, Sally Ann
- Mignot, Cyril
- Moorwood, Catherine
- Neuhofer, Christiane
- Nigro, Vincenzo
- Oostra, Anna
- Prokisch, Holger
- Saillour, Virginie
- Schuermans, Nika
- Torella, Annalaura
- Verloo, Patrick
- Yazbeck, Elise
- Zollino, Marcella
- Jech, Robert
- Winkelmann, Juliane
- Necpal, Jan
- Calì, Tito
- Brini, Marisa
- Zech, Michael
2023
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Human molecular genetics, 2022-09, Vol.31 (18), p.3083-3094
- Riedhammer, Korbinian M
- Burgemeister, Anna L
- Cantagrel, Vincent
- Amiel, Jeanne
- Siquier-Pernet, Karine
- Boddaert, Nathalie
- Hertecant, Jozef
- Kannouche, Patricia L
- Pouvelle, Caroline
- Htun, Stephanie
- Slavotinek, Anne M
- Beetz, Christian
- Diego-Alvarez, Dan
- Kampe, Kapil
- Fleischer, Nicole
- Awamleh, Zain
- Weksberg, Rosanna
- Kopajtich, Robert
- Meitinger, Thomas
- Suleiman, Jehan
- El-Hattab, Ayman W
2022
Link zum Volltext
American journal of human genetics, 2016-08, Vol.99 (2), p.414-422
- Kopajtich, Robert
- Murayama, Kei
- Janecke, Andreas R.
- Haack, Tobias B.
- Breuer, Maximilian
- Knisely, A.S.
- Harting, Inga
- Ohashi, Toya
- Okazaki, Yasushi
- Watanabe, Daisaku
- Tokuzawa, Yoshimi
- Kotzaeridou, Urania
- Kölker, Stefan
- Sauer, Sven
- Carl, Matthias
- Straub, Simon
- Entenmann, Andreas
- Gizewski, Elke
- Feichtinger, René G.
- Mayr, Johannes A.
- Lackner, Karoline
- Strom, Tim M.
- Meitinger, Thomas
- Müller, Thomas
- Ohtake, Akira
- Hoffmann, Georg F.
- Prokisch, Holger
- Staufner, Christian
2016
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