Anzahl der Publikationen: 25
Zeitschriftenartikel
Jacob, Maureen; Brugger, Melanie; Andres, Stephanie; Wagner, Matias; Graf, Elisabeth; Berutti, Riccardo; Tilch, Erik; Pavlov, Martin; Mayerhanser, Katharina; Hoefele, Julia; Meitinger, Thomas; Winkelmann, Juliane und Brunet, Theresa
(2024):
Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago.
In: Neuropediatrics
Dzinovic, Ivana; Graf, Elisabeth; Brugger, Melanie; Berutti, Riccardo; Prihodova, Iva; Blaschek, Astrid; Winkelmann, Juliane; Jech, Robert; Vill, Katharina und Zech, Michael
(2023):
Challenges in Establishing the Diagnosis of PRRT2-Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch.
In: Movement Disorders Clinical Practice, Bd. 10, Nr. 7: S. 1159-1161
[PDF, 562kB]
Strohm, Laura; Hu, Zehan; Suk, Yongwon; Rühmkorf, Alina; Sternburg, Erin; Gattringer, Vanessa; Riemenschneider, Henrick; Berutti, Riccardo; Graf, Elisabeth; Weishaupt, Jochen H.
ORCID: https://orcid.org/0000-0002-3399-9784; Brill, Monika S.; Harbauer, Angelika B.; Dormann, Dorothee; Dengjel, Jörn; Edbauer, Dieter und Behrends, Christian
(1. Juli 2022):
Multi-omics profiling identifies a deregulated FUS-MAP1B axis in ALS/FTD–associated UBQLN2 mutants.
In: Life Science Alliance, Bd. 5, Nr. 11
[PDF, 6MB]
Witzel, Simon; Wagner, Matias; Zhao, Chen; Kandler, Katharina; Graf, Elisabeth; Berutti, Riccardo; Oexle, Konrad; Brenner, David; Winkelmann, Juliane und Ludolph, Albert C.
(2022):
Fast versus slow disease progression in amyotrophic lateral sclerosis-clinical and genetic factors at the edges of the survival spectrum.
In: Neurobiology of Aging, Bd. 119: S. 117-126
Brunet, Theresa; Berutti, Riccardo; Dill, Veronika; Hecker, Judith S.; Choukair, Daniela; Andres, Stephanie; Deschauer, Marcus; Diehl-Schmid, Janine; Krenn, Martin; Eckstein, Gertrud; Graf, Elisabeth; Gasser, Thomas; Strom, Tim M.; Hoefele, Julia; Goetze, Katharina S.; Meitinger, Thomas und Wagner, Matias
(2022):
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders.
In: Human Molecular Genetics, Bd. 31, Nr. 14: S. 2386-2395
[PDF, 544kB]
Popp, Bernt; Brugger, Melanie; Poschmann, Sibylle; Bartolomaeus, Tobias; Radtke, Maximilian; Hentschel, Julia; Di Donato, Nataliya; Rump, Andreas; Gburek-Augustat, Janina; Graf, Elisabeth; Wagner, Matias; Sorge, Ina; Lemke, Johannes R.; Meitinger, Thomas; Abou Jamra, Rami; Strehlow, Vincent und Brunet, Theresa
(2022):
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.
In: Clinical Genetics, Bd. 103, Nr. 2: S. 226-230
Vogel, Florian D.; Krenn, Martin; Westphal, Dominik S.; Graf, Elisabeth; Wagner, Matias; Leiz, Steffen; Koniuszewski, Filip; Auge-Stock, Maximilian; Kramer, Georg; Scholze, Petra und Ernst, Margot
(2022):
A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype.
In: Epilepsia, Bd. 63, Nr. 4, E35-E41
Brunet, Theresa; McWalter, Kirsty; Mayerhanser, Katharina; Anbouba, Grace M.; Armstrong-Javors, Amy; Bader, Ingrid; Baugh, Evan; Begtrup, Amber; Bupp, Caleb P.; Callewaert, Bert L.; Cereda, Anna; Cousin, Margot A.; Jimenez, Juan C. Del Rey; Demmer, Laurie; Dsouza, Nikita R.; Fleischer, Nicole; Gavrilova, Ralitza H.; Ghate, Sumedha; Graf, Elisabeth; Green, Andrew; Green, Sarah R.; Iascone, Maria; Kdissa, Ameni; Klee, Dirk; Klee, Eric W.; Lancaster, Emily; Lindstrom, Kristin; Mayr, Johannes A.; McEntagart, Meriel; Meeks, Naomi J. L.; Mittag, Dana; Moore, Harrison; Olsen, Anne K.; Ortiz, Damara; Parsons, Gretchen; Pena, Loren D. M.; Person, Richard E.; Punj, Sumit; Ramos-Rivera, Gonzalo Alonso; Sacoto, Maria J. Guillen; Bradley Schaefer, G.; Schnur, Rhonda E.; Scott, Tiana M.; Scott, Daryl A.; Serbinski, Carolyn R.; Shashi, Vandana; Siu, Victoria M.; Stadheim, Barbro Fossoy; Sullivan, Jennifer A.; Svantnerova, Jana; Velsher, Lea; Wargowski, David S.; Wentzensen, Ingrid M.; Wieczorek, Dagmar; Winkelmann, Juliane; Yap, Patrick; Zech, Michael; Zimmermann, Michael T.; Meitinger, Thomas; Distelmaier, Felix und Wagner, Matias
(2021):
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
In: Genetics in Medicine, Bd. 23, Nr. 2: S. 384-395
[PDF, 5MB]
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]
Brunet, Theresa; Jech, Robert; Brugger, Melanie; Kovacs, Reka; Alhaddad, Bader; Leszinski, Gloria; Riedhammer, Korbinian M.; Westphal, Dominik S.; Mahle, Isabella; Mayerhanser, Katharina; Skorvanek, Matej; Weber, Sandrina; Graf, Elisabeth; Berutti, Riccardo; Necpal, Jan; Havrankova, Petra; Pavelekova, Petra; Hempel, Maja; Kotzaeridou, Urania; Hoffmann, Georg F.; Leiz, Steffen; Makowski, Christine; Roser, Timo; Schroeder, Sebastian A.; Steinfeld, Robert; Strobl-Wildemann, Gertrud; Hoefele, Julia; Borggraefe, Ingo; Distelmaier, Felix; Strom, Tim M.; Winkelmann, Juliane; Meitinger, Thomas; Zech, Michael und Wagner, Matias
(2021):
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
In: Clinical Genetics, Bd. 100, Nr. 1: S. 14-28
[PDF, 2MB]
Zech, Michael; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpal, Jan; Dincer, Yasemin; Vill, Katharina; Disteimaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fecikova, Anna; Havrankova, Petra; Roth, Jan; Prihodova, Iva; Adamovicova, Miriam; Ulmanova, Olga; Bechyne, Karel; Danhofer, Pavlina; Vesely, Branislav; Han, Vladimir; Pavelekova, Petra; Gdovinova, Zuzana; Mantel, Tobias; Meindl, Tobias; Sitzberger, Alexandra; Schröder, Sebastian; Blaschek, Astrid; Roser, Timo; Bonfert, Michaela V.; Haberlandt, Edda; Plecko, Barbara; Leineweber, Birgit; Berweck, Steffen; Herberhold, Thomas; Langguth, Berthold; Svantnerova, Jana; Minar, Michal; Ramos-Rivera, Gonzalo Alonso; Wojcik, Monica H.; Pajusalu, Sander; Ounap, Katrin; Schatz, Ulrich A.; Pölsler, Laura; Milenkovic, Ivan; Laccone, Franco; Pilhofer, Veronika; Colombo, Roberto; Patzer, Steffi; Iuso, Arcangela; Vera, Julia; Troncoso, Monica; Fang, Fang; Prokisch, Holger; Wilbert, Friederike; Eckenweiler, Matthias; Graf, Elisabeth; Westphal, Dominik S.; Riedhammer, Korbinian M.; Brunet, Theresa; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M.; Hecht, Martin; Baumann, Matthias; Wolf, Marc; Telegrafi, Aida; Person, Richard E.; Zamora, Francisca Milian; Henderson, Lindsay B.; Weise, David; Musacchio, Thomas; Volkmann, Jens; Szuto, Anna; Becker, Jessica; Cremer, Kirsten; Sycha, Thomas; Zimprich, Fritz; Kraus, Verena; Makowski, Christine; Gonzalez-Alegre, Pedro; Bardakjian, Tanya M.; Ozelius, Laurie J.; Vetro, Annafisa; Guerrini, Renzo; Maier, Esther; Borggraefe, Ingo; Kuster, Alice; Wortmann, Saskia B.; Hackenberg, Annette; Steinfeld, Robert; Assmann, Birgit; Staufner, Christian; Opladen, Thomas; Ruzicka, Evzen; Cohn, Ronald D.; Dyment, David; Chung, Wendy K.; Engels, Hartmut; Ceballos-Baumann, Andres; Ploski, Rafai; Daumke, Ofiver; Haslinger, Bernhard; Mall, Volker; Oexle, Konrad und Winkehnann, Juliane
(2020):
Monogenic variants in dystonia: an exome-wide sequencing study.
In: Lancet Neurology, Bd. 19, Nr. 11: S. 908-918
Zech, Michael; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpal, Jan; Dincer, Yasemin; Vill, Katharina; Distelmaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fecikova, Anna; Havrankova, Petra; Roth, Jan; Prihodova, Iva; Adamovicova, Miriam; Ulmanova, Olga; Bechyne, Karel; Danhofer, Pavlina; Vesely, Branislav; Han, Vladimir; Pavelekova, Petra; Gdovinova, Zuzana; Mantel, Tobias; Meindl, Tobias; Sitzberger, Alexandra; Schroeder, Sebastian; Blaschek, Astrid; Roser, Timo; Bonfert, Michaefa; Haberlandt, Edda; Plecko, Barbara; Leineweber, Birgit; Berweck, Steffen; Herberhold, Thomas; Langguth, Berthold; Svantnerova, Jana; Minar, Michal; Ramos-Rivera, Gonzalo Alonso; Wojcik, Monica H.; Pajusalu, Sander; Ounap, Katrin; Schatz, Ulrich A.; Poelsler, Laura; Milenkovic, Ivan; Laccone, Franco; Pilhofer, Veronika; Colombo, Roberto; Patzer, Steffi; Iuso, Arcangela; Vera, Julia; Troncoso, Monica; Fang, Fang; Prokisch, Holger; Wilbert, Friederike; Eckenweiler, Matthias; Graf, Elisabeth; Westphal, Dominik S.; Riedhammer, Korbinian M.; Brunet, Theresa; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M.; Hecht, Martin; Baumann, Matthias; Wolf, Marc; Telegrafi, Aida; Person, Richard E.; Zamora, Francisca Milian; Henderson, Lindsay B.; Weise, David; Musacchio, Thomas; Volkmann, Jens; Szuto, Anna; Becker, Jessica; Cremer, Kirsten; Sycha, Thomas; Zimprich, Fritz; Kraus, Verena; Makowski, Christine; Gonzalez-Alegre, Pedro; Bardakjian, Tanya M.; Ozelius, Laurie J.; Vetro, Annafisa; Guerrini, Renzo; Maier, Esther; Borggraefe, Ingo; Kuster, Alice; Wortmann, Saskia B.; Hackenberg, Annette; Steinfeld, Robert; Assmann, Birgit; Staufner, Christian; Opladen, Thomas; Ruzicka, Evzen; Cohn, Ronald D.; Dyment, David; Chung, Wendy K.; Engels, Hartmut; Ceballos-Baumann, Andres; Ploski, Rafai; Daumke, Ofiver; Haslinger, Bernhard; Mall, Volker; Oexle, Konrad und Winkehnann, Juliane
(2020):
Monogenic variants in dystonia: an exome-wide sequencing study.
In: Lancet Neurology, Bd. 19, Nr. 11: S. 908-918
[PDF, 1MB]
Meul, Thomas; Berschneider, Korbinian; Schmitt, Sabine; Mayr, Christoph H.; Mattner, Laura F.; Schiller, Herbert B.; Yazgili, Ayse S.; Wang, Xinyuan; Lukas, Christina; Schlesser, Camille; Prehn, Cornelia; Adamski, Jerzy; Graf, Elisabeth; Schwarzmayr, Thomas; Perocchi, Fabiana; Kukat, Alexandra; Trifunovic, Aleksandra; Kremer, Laura; Prokisch, Holger; Popper, Bastian; Toerne, Christine von; Hauck, Stefanie M.; Zischka, Hans und Meiners, Silke
(2020):
Mitochondria! Regulation of the 26S Proteasome.
In: Cell Reports, Bd. 32, Nr. 8, 108059
[PDF, 3MB]
Sachs, Stephan; Zarini, Simona; Kahn, Darcy E.; Harrison, Kathleen A.; Perreault, Leigh; Phang, Tzu; Newsom, Sean A.; Strauss, Allison; Kerege, Anna; Schön, Jonathan A.; Bessesen, Daniel H.; Schwarzmayr, Thomas; Graf, Elisabeth; Lufter, Dominik; Krumsiek, Jan; Hofmann, Susanna M. und Bergman, Bryan C.
(2019):
Intermuscular adipose tissue directly modulates skeletal muscle insulin sensitivity in humans.
In: American Journal of Physiology-Endocrinology and Metabolism, Bd. 316, Nr. 5, E866-E879
Sbiera, Silviu; Perez-Rivas, Luis Gustavo; Taranets, Lyudmyla; Weigand, Isabel; Flitsch, Jörg; Graf, Elisabeth; Monoranu, Camelia-Maria; Saeger, Wolfgang; Hagel, Christian; Honegger, Jürgen; Assie, Guillaume; Hermus, Ad R.; Stalla, Guenter K.; Herterich, Sabine; Ronchi, Cristina L.; Deutschbein, Timo; Reincke, Martin; Strom, Tim M.; Popov, Nikita; Theodoropoulou, Marily und Fassnacht, Martin
(2019):
Driver mutations in USP8 wild-type Cushing's disease.
In: Neuro-Oncology, Bd. 21, Nr. 10: S. 1273-1283
Cheng, Yiming; Jiang, Li; Keipert, Susanne; Zhang, Shuyue; Hauser, Andreas; Graf, Elisabeth; Strom, Tim; Tschöp, Matthias; Jastroch, Martin und Perocchi, Fabiana
(2018):
Prediction of Adipose Browning Capacity by Systematic Integration of Transcriptional Profiles.
In: Cell Reports, Bd. 23, Nr. 10: S. 3112-3125
[PDF, 2MB]
Dorn, Tatjana; Kornherr, Jessica; Parrotta, Elvira I.; Zawada, Dorota; Ayetey, Harold; Santamaria, Gianluca; Iop, Laura; Mastantuono, Elisa; Sinnecker, Daniel; Goedel, Alexander; Dirschinger, Ralf J.; My, Ilaria; Laue, Svenja; Bozoglu, Tarik; Baarlink, Christian; Ziegler, Tilman; Graf, Elisabeth; Hinkel, Rabea; Cuda, Giovanni; Kääb, Stefan; Grace, Andrew A.; Grosse, Robert; Kupatt, Christian; Meitinger, Thomas; Smith, Austin G.; Laugwitz, Karl-Ludwig und Moretti, Alessandra
(2018):
Interplay of cell–cell contacts and RhoA/MRTF‐A signaling regulates cardiomyocyte identity.
In: EMBO Journal, Bd. 37, Nr. 12, e98133
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
Kremer, Laura S.; Bader, Daniel M.; Mertes, Christian; Kopajtich, Robert; Pichler, Garwin; Iuso, Arcangela; Haack, Tobias B.; Graf, Elisabeth; Schwarzmayr, Thomas; Terrile, Caterina; Konarikova, Eliska; Repp, Birgit; Kastenmüller, Gabi; Adamski, Jerzy; Lichtner, Peter; Leonhardt, Christoph; Funalot, Benoit; Donati, Alice; Tiranti, Valeria; Lombes, Anne; Jardel, Claude; Glaeser, Dieter; Taylor, Robert W.; Ghezzi, Daniele; Mayr, Johannes A.; Rötig, Agnes; Freisinger, Peter; Distelmaier, Felix; Strom, Tim M.; Meitinger, Thomas; Gagneur, Julien und Prokisch, Holger
(2017):
Genetic diagnosis of Mendelian disorders via RNA sequencing.
In: Nature Communications, Bd. 8, 15824
[PDF, 1MB]
Quarta, Carmelo; Clemmensen, Christoffer; Zhu, Zhimeng; Yang, Bin; Joseph, Sini S.; Lutter, Dominik; Yi, Chun-Xia; Graf, Elisabeth; Garcia-Caceres, Cristina; Legutko, Beata; Fischer, Katrin; Brommage, Robert; Zizzari, Philippe; Franklin, Bernardo S.; Krüger, Martin; Koch, Marco; Vettorazzi, Sabine; Li, Pengyun; Hofmann, Susanna M.; Bakhti, Mostafa; Bastidas-Ponce, Aimee; Lickert, Heiko; Strom, Tim M.; Gailus-Durner, Valerie; Bechmann, Ingo; Perez-Tilve, Diego; Tuckermann, Jan; Hrabe de Angelis, Martin; Sandoval, Darleen; Cota, Daniela; Latz, Eicke; Seeley, Randy J.; Müller, Timo D.; DiMarchi, Richard D.; Finan, Brian und Tschöp, Matthias H.
(2017):
Molecular Integration of Incretin and Glucocorticoid Action Reverses Immunometabolic Dysfunction and Obesity.
In: Cell Metabolism, Bd. 26, Nr. 4: S. 620-632
Diener, Susanne; Bayer, Sieglinde; Sabrautzki, Sibylle; Wieland, Thomas; Mentrup, Birgit; Przemeck, Gerhard K. H.; Rathkolb, Birgit; Graf, Elisabeth; Hans, Wolfgang; Fuchs, Helmut; Horsch, Marion; Schwarzmayr, Thomas; Wolf, Eckhard; Klopocki, Eva; Jakob, Franz; Strom, Tim M.; Hrabě de Angelis, Martin und Lorenz-Depiereux, Bettina
(2016):
Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia.
In: Mammalian Genome, Bd. 27, Nr. 3-4: S. 111-121
Haack, Tobias B.; Ignatius, Erika; Calvo-Garrido, Javier; Iuso, Arcangela; Isohanni, Pirjo; Maffezzini, Camilla; Lönnqvist, Tuula; Suomalainen, Anu; Gorza, Matteo; Kremer, Laura S.; Graf, Elisabeth; Hartig, Monika; Berutti, Riccardo; Paucar, Martin; Svenningsson, Per; Stranneheim, Henrik; Brandberg, Göran; Wedell, Anna; Kurian, Manju A.; Hayflick, Susan A.; Venco, Paola; Tiranti, Valeria; Strom, Tim M.; Dichgans, Martin; Horvath, Rita; Holinski-Feder, Elke; Freyer, Christoph; Meitinger, Thomas; Prokisch, Holger; Senderek, Jan; Wredenberg, Anna; Carroll, Christopher J. und Klopstock, Thomas
(2016):
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
In: American Journal of Human Genetics, Bd. 99, Nr. 3: S. 735-743
Kremer, Laura S.; Distelmaier, Felix; Alhaddad, Bader; Hempel, Maja; Iuso, Arcangela; Küpper, Clemens; Mühlhausen, Chris; Kovacs-Nagy, Reka; Satanovskij, Robin; Graf, Elisabeth; Berutti, Riccardo; Eckstein, Gertrud; Durbin, Richard; Sauer, Sascha; Hoffmann, Georg F.; Strom, Tim M.; Santer, René; Meitinger, Thomas; Klopstock, Thomas; Prokisch, Holger und Haack, Tobias B.
(2016):
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.
In: American Journal of Human Genetics, Bd. 98, Nr. 2: S. 358-362
Haack, Tobias B.; Jackson, Christopher B.; Murayama, Kei; Kremer, Laura S.; Schaller, André; Kotzaeridou, Urania; Vries, Maaike C. de; Schottmann, Gudrun; Santra, Saikat; Büchner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Sandra; Ohtake, Akira; Okazaki, Yasushi; Kohda, Masakazu; Kishita, Yoshihito; Tokuzawa, Yoshimi; Sauer, Sascha; Memari, Yasin; Kolb-Kokocinski, Anja; Durbin, Richard; Hasselmann, Oswald; Cremer, Kirsten; Albrecht, Beate; Wieczorek, Dagmar; Engels, Hartmut; Hahn, Dagmar; Zink, Alexander M.; Alston, Charlotte L.; Taylor, Robert W.; Rodenburg, Richard J.; Trollmann, Regina; Sperl, Wolfgang; Strom, Tim M.; Hoffmann, Georg F.; Mayr, Johannes A.; Meitinger, Thomas; Bolognini, Ramona; Schuelke, Markus; Nuoffer, Jean-Marc; Kölker, Stefan; Prokisch, Holger und Klopstock, Thomas
(2015):
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
In: Annals of Clinical and Translational Neurology, Bd. 2, Nr. 5: S. 492-509
Haack, Tobias B.; Haberberger, Birgit; Frisch, Eva-Maria; Wieland, Thomas; Iuso, Arcangela; Gorza, Matteo; Strecker, Valentina; Graf, Elisabeth; Mayr, Johannes A.; Herberg, Ulrike; Hennermann, Julia B.; Klopstock, Thomas; Kuhn, Klaus A.; Ahting, Uwe; Sperl, Wolfgang; Wilichowski, Ekkehard; Hoffmann, Georg F.; Tesarova, Marketa; Hansikova, Hana; Zeman, Jiri; Plecko, Barbara; Zeviani, Massimo; Wittig, Ilka; Strom, Tim M.; Schuelke, Markus; Freisinger, Peter; Meitinger, Thomas und Prokisch, Holger
(April 2012):
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
In: Journal of medical genetics, Bd. 49, Nr. 4: S. 277-283
[PDF, 372kB]
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