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Anzahl der Publikationen: 34

Zeitschriftenartikel

Mandler, Julia M.; Härtl, Johanna; Cordts, Isabell; Sturm, Marc ORCID logoORCID: https://orcid.org/0000-0002-6552-8362; Hedderich, Dennis M.; Bafligil, Cemsel; Baki, Enayatullah; Becker, Benedikt; Machetanz, Gerrit; Haack, Tobias B. ORCID logoORCID: https://orcid.org/0000-0001-6033-4836; Berthele, Achim; Hemmer, Bernhard ORCID logoORCID: https://orcid.org/0000-0001-5985-6784 und Deschauer, Marcus ORCID logoORCID: https://orcid.org/0000-0001-6116-6790 (2024): Uncovering genetic mimics in multiple sclerosis. A single-center clinical exome sequencing study. In: Multiple Sclerosis Journal - Experimental, Translational and Clinical, Bd. 10, Nr. 3 [PDF, 570kB]

Caldi Gomes, Lucas ORCID logoORCID: https://orcid.org/0000-0003-4959-2169; Hänzelmann, Sonja ORCID logoORCID: https://orcid.org/0000-0003-4953-0101; Hausmann, Fabian ORCID logoORCID: https://orcid.org/0000-0001-6110-5824; Khatri, Robin ORCID logoORCID: https://orcid.org/0009-0006-5311-1718; Oller, Sergio; Parvaz, Mojan; Tzeplaeff, Laura ORCID logoORCID: https://orcid.org/0009-0003-7643-3232; Pasetto, Laura; Gebelin, Marie; Ebbing, Melanie; Holzapfel, Constantin; Columbro, Stefano Fabrizio; Scozzari, Serena; Knöferle, Johanna; Cordts, Isabell; Demleitner, Antonia F.; Deschauer, Marcus; Dufke, Claudia; Sturm, Marc; Zhou, Qihui; Zelina, Pavol; Sudria-Lopez, Emma; Haack, Tobias B. ORCID logoORCID: https://orcid.org/0000-0001-6033-4836; Streb, Sebastian ORCID logoORCID: https://orcid.org/0000-0002-9095-6596; Kuzma-Kozakiewicz, Magdalena; Edbauer, Dieter ORCID logoORCID: https://orcid.org/0000-0002-7186-4653; Pasterkamp, R. Jeroen ORCID logoORCID: https://orcid.org/0000-0003-1631-6440; Laczko, Endre ORCID logoORCID: https://orcid.org/0000-0003-0271-3971; Rehrauer, Hubert ORCID logoORCID: https://orcid.org/0000-0001-7612-9394; Schlapbach, Ralph; Carapito, Christine ORCID logoORCID: https://orcid.org/0000-0002-0079-319X; Bonetto, Valentina ORCID logoORCID: https://orcid.org/0000-0003-0456-2054; Bonn, Stefan und Lingor, Paul (2024): Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target. In: Nature Communications, Bd. 15, 4893 [PDF, 4MB]

Figueroa, Karla P.; Gross, Caspar ORCID logoORCID: https://orcid.org/0000-0002-9009-5458; Buena-Atienza, Elena ORCID logoORCID: https://orcid.org/0000-0002-9890-1960; Paul, Sharan; Gandelman, Mandi; Kakar, Naseebullah; Sturm, Marc ORCID logoORCID: https://orcid.org/0000-0002-6552-8362; Casadei, Nicolas; Admard, Jakob ORCID logoORCID: https://orcid.org/0000-0003-0466-582X; Park, Joohyun; Zühlke, Christine; Hellenbroich, Yorck; Pozojevic, Jelena; Balachandran, Saranya ORCID logoORCID: https://orcid.org/0009-0002-4905-3093; Händler, Kristian ORCID logoORCID: https://orcid.org/0000-0001-5273-5277; Zittel, Simone ORCID logoORCID: https://orcid.org/0000-0002-3767-6376; Timmann, Dagmar; Erdlenbruch, Friedrich ORCID logoORCID: https://orcid.org/0009-0006-0654-836X; Herrmann, Laura; Feindt, Thomas; Zenker, Martin ORCID logoORCID: https://orcid.org/0000-0003-1618-9269; Klopstock, Thomas ORCID logoORCID: https://orcid.org/0000-0003-2805-4652; Dufke, Claudia ORCID logoORCID: https://orcid.org/0000-0001-5225-2443; Scoles, Daniel R.; Koeppen, Arnulf; Spielmann, Malte ORCID logoORCID: https://orcid.org/0000-0002-0583-4683; Riess, Olaf ORCID logoORCID: https://orcid.org/0000-0002-7011-1369; Ossowski, Stephan; Haack, Tobias B. ORCID logoORCID: https://orcid.org/0000-0001-6033-4836 und Pulst, Stefan M. ORCID logoORCID: https://orcid.org/0000-0003-0883-7879 (2024): A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy. In: Nature Genetics [Forthcoming]

Traschuetz, Andreas; Adarmes-Gomez, Astrid D.; Anheim, Mathieu; Baets, Jonathan; Falkenburger, Bjoern H.; Gburek-Augustat, Janina; Doss, Sarah; Kamm, Christoph; Klivenyi, Peter; Grobe-Einsler, Marcus; Klopstock, Thomas; Minnerop, Martina; Munchau, Alexander; Pane, Chiara; Renaud, Mathilde; Santorelli, Filippo M.; Schoels, Ludger; Timmann, Dagmar; Vielhaber, Stefan; Haack, Tobias B.; van de Warrenburg, Bart P.; Zanni, Ginevra und Synofzik, Matthis (2023): Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients. In: Movement Disorders, Bd. 38, Nr. 6: S. 1109-1112 [PDF, 883kB]

Oexle, Konrad; Zech, Michael; Stuehn, Lara G.; Siegert, Sandy; Brunet, Theresa; Schmidt, Wolfgang M.; Wagner, Matias; Schmidt, Axel; Engels, Hartmut; Tilch, Erik; Monestier, Olivier; Destree, Anne; Hanker, Britta; Boesch, Sylvia; Jech, Robert; Berutti, Riccardo; Kaiser, Frank; Haslinger, Bernhard; Haack, Tobias B.; Garavaglia, Barbara; Krawitz, Peter; Winkelmann, Juliane und Mirza-Schreiber, Nazanin (2023): Episignature analysis of moderate effects and mosaics. In: European Journal of Human Genetics, Bd. 31, Nr. 9: S. 1032-1039 [PDF, 1MB]

Priglinger, Claudia S.; Rudolph, Günter; Schmid, Irene; Mazzola, Pascale; Haack, Tobias B.; Reith, Milda; Stingl, Katarina und Weisschuh, Nicole (2022): Characterization of a novel non-canonical splice site variant (c.886-5T>A) in NBAS and description of the associated phenotype. In: Molecular Genetics & Genomic Medicine, Bd. 11, Nr. 3, e2120

Vondel, Liedewei van de; De Winter, Jonathan; Beijer, Danique; Coarelli, Giulia; Wayand, Melanie; Palvadeau, Robin; Pauly, Martje G.; Klein, Katrin; Rautenberg, Maren; Guillot-Noel, Lena; Deconinck, Tine; Vural, Atay; Ertan, Sibel; Dogu, Okan; Uysal, Hilmi; Brankovic, Vesna; Herzog, Rebecca; Brice, Alexis; Durr, Alexandra; Klebe, Stephan; Stock, Friedrich; Bischoff, Almut Turid; Rattay, Tim W.; Sobrido, Maria-Jesus; De Michele, Giovanna; De Jonghe, Peter; Klopstock, Thomas; Lohmann, Katja; Zanni, Ginevra; Santorelli, Filippo M.; Timmerman, Vincent; Haack, Tobias B.; Zuchner, Stephan; Schuele, Rebecca; Stevanin, Giovanni; Synofzik, Matthis; Basak, A. Nazli und Baets, Jonathan (2022): De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia. In: Movement Disorders, Bd. 37, Nr. 6: S. 1175-1186 [PDF, 1MB]

Cordts, Isabell; Oender, Demet; Traschuetz, Andreas; Kobeleva, Xenia; Karin, Ivan; Minnerop, Martina; Koertvelyessy, Peter; Biskup, Saskia; Forchhammer, Stephan; Binder, Johannes; Tzschach, Andreas; Meiss, Frank; Schmidt, Axel; Kreiss, Martina; Cremer, Kirsten; Mensah, Martin A.; Park, Joohyun; Rautenberg, Maren; Deininger, Natalie; Sturm, Marc; Lingor, Paul; Klopstock, Thomas; Weiler, Markus; Marxreiter, Franz; Synofzik, Matthis; Posch, Christian; Sirokay, Judith; Klockgether, Thomas; Haack, Tobias B. und Deschauer, Marcus (2022): Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin. In: Movement Disorders, Bd. 37, Nr. 8: S. 1707-1718 [PDF, 7MB]

Park, Joohyun; Tucci, Arianna; Cipriani, Valentina; Demidov, German; Rocca, Clarissa; Senderek, Jan; Butryn, Michaela; Velic, Ana; Lam, Tanya; Galanaki, Evangelia; Cali, Elisa; Vestito, Letizia; Maroofian, Reza; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Hahn, Gesa-Astrid; Bartels, Claudius; Os, Nienke J. H. van; Horvath, Rita; Chinnery, Patrick F.; Tiet, May Yung; Hewamadduma, Channa; Hadjivassiliou, Marios; Tofaris, George K.; Wood, Nicholas W.; Hayer, Stefanie N.; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Huu, Phuc Nguyen; Krauss, Joachim K.; Blahak, Christian; Strom, Tim M.; Sturm, Marc; Warrenburg, Bart vam de; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Timmann, Dagmar; Wolf, Marc E.; Smedley, Damian; Riess, Olaf; Schoels, Ludger; Houlden, Henry; Haack, Tobias B. und Hengel, Holger (2022): Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy. In: Genetics in Medicine, Bd. 24, Nr. 10: S. 2079-2090

Cordts, Isabell; Hecker, Judith S.; Gauck, Darja; Park, Joohyun; Haertl, Johanna; Guenthner, Roman; Hammitzsch, Ariane; Schoser, Benedikt; Abeck, Dietrich; Goetze, Katharina S.; Haack, Tobias B.; Deschauer, Marcus; Moog, Philipp und Hemmer, Bernhard (2022): Successful treatment with azacitidine in VEXAS syndrome with prominent myofasciitis. In: Rheumatology, Bd. 61, Nr. 5, E117-E119 [PDF, 382kB]

Vermehren-Schmaedick, Anke; Huang, Jeffrey Y.; Levinson, Madison; Pomaville, Matthew B.; Reed, Sarah; Bellus, Gary A.; Gilbert, Fred; Keren, Boris; Heron, Delphine; Haye, Damien; Janello, Christine; Makowski, Christine; Danhauser, Katharina; Fedorov, Lev M.; Haack, Tobias B.; Wright, Kevin M. und Cohen, Michael S. (2021): Characterization of PARP6 Function in Knockout Mice and Patients with Developmental Delay. In: Cells, Bd. 10, Nr. 6, 1289

Traschutz, Andreas; Cortese, Andrea; Reich, Selina; Dominik, Natalia; Faber, Jennifer; Jacobi, Heike; Hartmann, Annette M.; Rujescu, Dan; Montaut, Solveig; Echaniz-Laguna, Andoni; Erer, Sevda; Schutz, Valerie Cornelia; Tarnutzer, Alexander A.; Sturm, Marc; Haack, Tobias B.; Vaucamps-Diedhiou, Nadege; Puccio, Helene; Schols, Ludger; Klockgether, Thomas; Warrenburg, Bart P. van de; Paucar, Martin; Timmann, Dagmar; Hilgers, Ralf-Dieter; Gazulla, Jose; Strupp, Michael; Moris, German; Filla, Alessandro; Houlden, Henry; Anheim, Mathieu; Infante, Jon; Basak, A. Nazli und Synofzik, Matthis (2021): Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease. In: Neurology, Bd. 96, Nr. 9, E1369-E1382

Riedhammer, Korbinian M.; Stockler, Sylvia; Ploski, Rafal; Wenzel, Maren; Adis-Dutschmann, Burkhard; Ahting, Uwe; Alhaddad, Bader; Blaschek, Astrid; Haack, Tobias B.; Kopajtich, Robert; Lee, Jessica; Pienkowski, Victor Murcia; Pollak, Agnieszka; Szymanska, Krystyna; Tarailo-Graovac, Maja; Lee, Robin van der; Karnebeek, Clara D. van; Meitinger, Thomas; Krageloh-Mann, Ingeborg und Vill, Katharina (2021): De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy. In: Brain, Bd. 144: S. 411-419

Rapp, Christina K.; Dijck, Ine van; Laugwitz, Lucia; Boon, Mieke; Briassoulis, George; Ilia, Stavroula; Kammer, Birgit; Reu, Simone; Hornung, Stefanie; Buchert, Rebecca; Sofan, Linda; Froukh, Tawfiq; Witters, Peter; Rymen, Daisy; Haack, Tobias B.; Proesmans, Marijke und Griese, Matthias (2021): Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy. In: Clinical Genetics, Bd. 100, Nr. 4: S. 453-461

Deschauer, Marcus; Hengel, Holger; Rupprich, Katrin; Kreiss, Martina; Schlotter-Weigel, Beate; Grimmel, Mona; Admard, Jakob; Schneider, Ilka; Alhaddad, Bader; Gazou, Anastasia; Sturm, Marc; Vorgerd, Matthias; Balousha, Ghassan; Balousha, Osama; Falna, Mohammed; Kirschke, Jan S.; Kornblum, Cornelia; Jordan, Berit; Kraya, Torsten; Strom, Tim M.; Weis, Joachim; Schoels, Ludger; Schara, Ulrike; Zierz, Stephan; Riess, Olaf; Meitinger, Thomas und Haack, Tobias B. (2021): Bi-allelic truncating mutations in VWA1 cause neuromyopathy. In: Brain, Bd. 144: S. 574-583

Stendel, Claudia; Neuhofer, Christiane; Floride, Elisa; Shi, Yuqing; Ganetzky, Rebecca D.; Park, Joohyun; Freisinger, Peter; Kornblum, Cornelia; Kleinle, Stephanie; Schoels, Ludger; Distelmaier, Felix; Stettner, Georg M.; Buechner, Boriana; Falk, Marni J.; Mayr, Johannes A.; Synofzik, Matthis; Abicht, Angela; Haack, Tobias B.; Prokisch, Holger; Wortmann, Saskia B.; Murayama, Kei; Fang, Fang und Klopstock, Thomas (2020): Delineating MT-ATP6-associated disease. In: Neurology-Genetics, Bd. 6, Nr. 1, e393 [PDF, 543kB]

Neuhofer, Christiane M.; Catarino, Claudia B.; Schmidt, Heinrich; Seelos, Klaus; Alhaddad, Bader; Haack, Tobias B. und Klopstock, Thomas (2020): LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum. In: Neurology-Genetics, Bd. 6, Nr. 5, e500 [PDF, 348kB]

Husain, Ralf A.; Grimmel, Mona; Wagner, Matias; Hennings, J. Christopher; Marx, Christian; Feichtinger, Rene G.; Saadi, Abdelkrim; Rostasy, Kevin; Radelfahr, Florentine; Bevot, Andrea; Doebler-Neumann, Marion; Hartmann, Hans; Colleaux, Laurence; Cordts, Isabell; Kobeleva, Xenia; Darvish, Hossein; Bakhtiari, Somayeh; Kruer, Michael C.; Besse, Arnaud; Ng, Andy Cheuk-Him; Chiang, Diana; Bolduc, Francois; Tafakhori, Abbas; Mane, Shrikant; Firouzabadi, Saghar Ghasemi; Huebner, Antje K.; Buchert, Rebecca; Beck-Woedl, Stefanie; Müller, Amelie J.; Laugwitz, Lucia; Naegele, Thomas; Wang, Zhao-Qi; Strom, Tim M.; Sturm, Marc; Meitinger, Thomas; Klockgether, Thomas; Riess, Olaf; Klopstock, Thomas; Brandl, Ulrich; Huebner, Christian A.; Deschauer, Marcus; Mayr, Johannes A.; Bonnen, Penelope E.; Kraegeloh-Mann, Ingeborg; Wortmann, Saskia B. und Haack, Tobias B. (2020): Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia. In: American Journal of Human Genetics, Bd. 107, Nr. 2: S. 364-373

Murakami, Yoshiko; Thi Tuyet Mai, Nguyen; Baratang, Nissan; Raju, Praveen K.; Knaus, Alexej; Ellard, Sian; Jones, Gabriela; Lace, Baiba; Rousseau, Justine; Ajeawung, Norbert Fonya; Kamei, Atsushi; Minase, Gaku; Akasaka, Manami; Araya, Nami; Koshimizu, Eriko; van den Ende, Jenneke; Erger, Florian; Altmüller, Janine; Krumina, Zita; Strautmanis, Jurgis; Inashkina, Inna; Stavusis, Janis; El-Gharbawy, Areeg; Sebastian, Jessica; Puri, Ratna Dua; Kulshrestha, Samarth; Verma, Ishwar C.; Maier, Esther M.; Haack, Tobias B.; Israni, Anil; Baptista, Julia; Gunning, Adam; Rosenfeld, Jill A.; Liu, Pengfei; Joosten, Marieke; Rocha, Maria Eugenia; Hashem, Mais O.; Aldhalaan, Hesham M.; Alkuraya, Fowzan S.; Miyatake, Satoko; Matsumoto, Naomichi; Krawitz, Peter M.; Rossignol, Elsa; Kinoshita, Taroh und Campeau, Philippe M. (2019): Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. In: American Journal of Human Genetics, Bd. 105, Nr. 2: S. 384-394

Feichtinger, Rene G.; Mucha, Bettina E.; Hengel, Holger; Orfi, Zakaria; Makowski, Christine; Dort, Junio; D'Anjou, Guy; Thi Tuyet Mai, Nguyen; Buchert, Rebecca; Jünger, Hendrik; Freisinger, Peter; Baumeister, Sarah; Schoser, Benedikt; Ahting, Uwe; Keimer, Reinhard; Nguyen, Cam-Tu Emilie; Fabre, Paul; Gauthier, Julie; Miguet, Marguerite; Lopes, Fatima; AlHakeem, Afnan; AlHashem, Amal; Tabarki, Brahim; Kandaswamy, Krishna Kumar; Bauer, Peter; Steinbacher, Peter; Prokisch, Holger; Sturm, Marc; Strom, Tim M.; Ellezam, Benjamin; Mayr, Johannes A.; Schoels, Ludger; Michaud, Jacques L.; Campeau, Philippe M.; Haack, Tobias B. und Dumont, Nicolas A. (2019): Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. In: Genetics in Medicine, Bd. 21, Nr. 11: S. 2521-2531

Alhaddad, Bader; Schossig, Anna; Haack, Tobias B.; Kovacs-Nagy, Reka; Braunisch, Matthias C.; Makowski, Christine; Senderek, Jan; Vill, Katharina; Müller-Felber, Wolfgang; Strom, Tim M.; Krabichler, Birgit; Freisinger, Peter; Deshpande, Charu; Polster, Tilman; Wolf, Nicole; Desguerre, Isabelle; Wörmann, Friedrich; Rotig, Agnes; Ahting, Uwe; Kopajtich, Robert; Prokisch, Holger; Meitinger, Thomas; Feichtinger, Rene G.; Mayr, Johannes A.; Jungbluth, Heinz; Hubmann, Michael; Zschocke, Johannes; Distelmaier, Felix und Koch, Johannes (2018): PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum. In: Neuropediatrics, Bd. 49, Nr. 5: S. 330-338

Repp, Birgit M.; Mastantuono, Elisa; Alston, Charlotte L.; Schiff, Manuel; Haack, Tobias B.; Rotig, Agnes; Ardissone, Anna; Lombes, Anne; Catarino, Claudia B.; Diodato, Daria; Schottmann, Gudrun; Poulton, Joanna; Burlina, Alberto; Jonckheere, An; Munnich, Arnold; Rolinski, Boris; Ghezzi, Daniele; Rokicki, Dariusz; Wellesley, Diana; Martinelli, Diego; Wenhong, Ding; Lamantea, Eleonora; Ostergaard, Elsebet; Pronicka, Ewa; Pierre, Germaine; Smeets, Hubert J. M.; Wittig, Ilka; Scurr, Ingrid; Coo, Irenaeus F. M. de; Moroni, Isabella; Smet, Joel; Mayr, Johannes A.; Dai, Lifang; Meirleir, Linda de; Schülke, Markus; Zeviani, Massimo; Morscher, Raphael J.; McFarland, Robert; Seneca, Sara; Klopstock, Thomas; Meitinger, Thomas; Wieland, Thomas; Strom, Tim M.; Herberg, Ulrike; Ahting, Uwe; Sperl, Wolfgang; Nassogne, Marie-Cecile; Ling, Han; Fang, Fang; Freisinger, Peter; Coster, Rudy van; Strecker, Valentina; Taylor, Robert W.; Häberle, Johannes; Vockley, Jerry; Prokisch, Holger und Wortmann, Saskia (2018): Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? In: Orphanet Journal of Rare Diseases 13:120 [PDF, 3MB]

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

Vill, Katharina; Müller-Felber, Wolfgang; Alhaddad, Bader; Strom, Tim M.; Teusch, Veronika; Weigand, Heike; Blaschek, Astrid; Meitinger, Thomas und Haack, Tobias B. (2017): A Homozygous Splice Variant in AP4S1 Mimicking Neurodegeneration with Brain Iron Accumulation. In: Movement Disorders, Bd. 32, Nr. 5: S. 797-799

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]

Zech, Michael; Boesch, Sylvia; Maier, Esther M.; Borggraefe, Ingo; Vill, Katharina; Laccone, Franco; Pilshofer, Veronika; Ceballos-Baumann, Andres; Alhaddad, Bader; Berutti, Riccardo; Poewe, Werner; Haack, Tobias B.; Haslinger, Bernhard; Strom, Tim M. und Winkelmann, Juliane (2016): Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia. In: American Journal of Human Genetics, Bd. 99, Nr. 6: S. 1377-1387

Kremer, Laura S.; Danhauser, Katharina; Herebian, Diran; Ramadza, Danijela Petkovic; Piekutowska-Abramczuk, Dorota; Seibt, Annette; Müller-Felber, Wolfgang; Haack, Tobias B.; Ploski, Rafal; Lohmeier, Klaus; Schneider, Dominik; Klee, Dirk; Rokicki, Dariusz; Mayatepek, Ertan; Strom, Tim M.; Meitinger, Thomas; Klopstock, Thomas; Pronicka, Ewa; Mayr, Johannes A.; Baric, Ivo; Distelmaier, Felix und Prokisch, Holger (2016): NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood. In: American Journal of Human Genetics, Bd. 99, Nr. 4: S. 894-902

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

Koch, Johannes; Freisinger, Peter; Feichtinger, Rene G.; Zimmermann, Franz A.; Rauscher, Christian; Wagentristl, Hans P.; Konstantopoulou, Vassiliki; Seidl, Rainer; Haack, Tobias B.; Prokisch, Holger; Ahting, Uwe; Sperl, Wolfgang; Mayr, Johannes A. und Maier, Esther M. (2015): Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype. In: Orphanet Journal of Rare Diseases 10:40 [PDF, 2MB]

Haghighi, Alireza; Haack, Tobias B.; Atiq, Mehnaz; Mottaghi, Hassan; Haghighi-Kakhki, Hamidreza; Bashir, Rani A.; Ahting, Uwe; Feichtinger, Rene G.; Mayr, Johannes A.; Rötig, Agnes; Lebre, Anne-Sophie; Klopstock, Thomas; Dworschak, Andrea; Pulido, Nathan; Saeed, Mahmood A.; Saleh-Gohari, Nasrollah; Holzerova, Eliska; Chinnery, Patrick F.; Taylor, Robert W. und Prokisch, Holger (2014): Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients. In: Orphanet Journal of Rare Diseases 9:119 [PDF, 2MB]

Synofzik, Matthis; Soehn, Anne S.; Gburek-Augustat, Janina; Schicks, Julia; Karle, Kathrin N.; Schuele, Rebecca; Haack, Tobias B.; Schoening, Martin; Biskup, Saskia; Rudnik-Schoeneborn, Sabine; Senderek, Jan; Hoffmann, Karl-Titus; MacLeod, Patrick; Schwarz, Johannes; Bender, Benjamin; Krueger, Stefan; Kreuz, Friedmar; Bauer, Peter und Schoels, Ludger (2013): Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. In: Orphanet Journal of Rare Diseases 8:41 [PDF, 1MB]

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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