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Anzahl der Publikationen: 23
Zeitschriftenartikel
Blackburn, Patrick R.; Ebstein, Frédéric; Hsieh, Tzung‐Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C.; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Bénédicte; Smol, Thomas; Vincent‐Delorme, Catherine; Cogné, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann‐Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne‐Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S.; Rosenfeld, Jill A.; Faivre, Laurence; Mau‐Them, Frederic Tran; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B.; Madden, Jill A.; Goldenberg, Alice; Lecoquierre, François; Zech, Michael; Prokisch, Holger 
ORCID: https://orcid.org/0000-0003-2379-6286; Necpál, Ján; Jech, Robert; Winkelmann, Juliane ORCID: https://orcid.org/0000-0002-3074-599X; Koprušáková, Monika Turčanová; Konstantopoulou, Vassiliki; Younce, John R.; Shinawi, Marwan ORCID: https://orcid.org/0000-0003-1329-4100; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F.; Lerner‐Ellis, Jordan; DiTroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P.A.; van der Schoot, Vyne; Brunet, Theresa ORCID: https://orcid.org/0000-0002-5183-780X; Bußmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B.; Mayr, Johannes A.; Feichtinger, René G.; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N.; Klee, Eric W.; Grand, Katheryn; Sanchez‐Lara, Pedro A.; Krüger, Elke; Bézieau, Stéphane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E.; Tartaglia, Marco ORCID: https://orcid.org/0000-0001-7736-9672; Küry, Sébastien und Wang, Tianyun ORCID: https://orcid.org/0000-0002-5179-087X
(2024):
Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.
In: Annals of Neurology [Forthcoming]
ORCID: https://orcid.org/0000-0003-2379-6286; Necpál, Ján; Jech, Robert; Winkelmann, Juliane ORCID: https://orcid.org/0000-0002-3074-599X; Koprušáková, Monika Turčanová; Konstantopoulou, Vassiliki; Younce, John R.; Shinawi, Marwan ORCID: https://orcid.org/0000-0003-1329-4100; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F.; Lerner‐Ellis, Jordan; DiTroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P.A.; van der Schoot, Vyne; Brunet, Theresa ORCID: https://orcid.org/0000-0002-5183-780X; Bußmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B.; Mayr, Johannes A.; Feichtinger, René G.; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N.; Klee, Eric W.; Grand, Katheryn; Sanchez‐Lara, Pedro A.; Krüger, Elke; Bézieau, Stéphane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E.; Tartaglia, Marco ORCID: https://orcid.org/0000-0001-7736-9672; Küry, Sébastien und Wang, Tianyun ORCID: https://orcid.org/0000-0002-5179-087X
(2024):
Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.
In: Annals of Neurology [Forthcoming]
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
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]
Zech, Michael; Kopajtich, Robert; Steinbruecker, Katja; Bris, Celine; Gueguen, Naig; Feichtinger, Rene G.; Achleitner, Melanie T.; Duzkale, Neslihan; Perivier, 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 und Prokisch, Holger
(2022):
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
In: Annals of Neurology, Bd. 91, Nr. 2: S. 225-237
[PDF, 1MB]
Skorvanek, Matej; Rektorova, Irena; Mandemakers, Wim; Wagner, Matias; Steinfeld, Robert; Orec, Laura; Han, Vladimir; Pavelekova, Petra; Lackova, Alexandra; Kulcsarova, Kristina; Ostrozovicova, Miriam; Gdovinova, Zuzana; Plecko, Barbara; Brunet, Theresa; Berutti, Riccardo; Kuipers, Demy J. S.; Boumeester, Valerie; Havrankova, Petra; Tijssen, M. A. J.; Kaiyrzhanov, Rauan; Rizig, Mie; Houlden, Henry; Winkelmann, Juliane; Bonifati, Vincenzo; Zech, Michael und Jech, Robert
(2022):
WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.
In: Parkinsonism & Related Disorders, Bd. 94: S. 54-61
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
Holtz, Alexander M.; VanCoillie, Rachel; Vansickle, Elizabeth A.; Carere, Deanna Alexis; Withrow, Kara; Torti, Erin; Juusola, Jane; Millan, Francisca; Person, Richard; Sacoto, Maria J. Guillen; Si, Yue; Wentzensen, Ingrid M.; Pugh, Jada; Vasileiou, Georgia; Rieger, Melissa; Reis, Andr Prime E.; Argilli, Emanuela; Sherr, Elliott H.; Aldinger, Kimberly A.; Dobyns, William B.; Brunet, Theresa; Hoefele, Julia; Wagner, Matias; Haber, Benjamin; Kotzaeridou, Urania; Keren, Boris; Heron, Delphine; Mignot, Cyril; Heide, Solveig; Courtin, Thomas; Buratti, Julien; Murugasen, Serini; Donald, Kirsten A.; O'Heir, Emily; Moody, Shade; Kim, Katherine H.; Burton, Barbara K.; Yoon, Grace; Del Campo, Miguel; Masser-Frye, Diane; Kozenko, Mariya; Parkinson, Christina; Sell, Susan L.; Gordon, Patricia L.; Prokop, Jeremy W.; Karaa, Amel; Bupp, Caleb und Raby, Benjamin A.
(2022):
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
In: Genetics in Medicine, Bd. 24, Nr. 10: S. 2065-2078
Della Marina, Adela; Bertolini, Annikki; Wegener-Panzer, Andreas; Flotats-Bastardas, Marina; Reinhardt, Tabea; El Naggar, Ines; Distelmaier, Felix; Blaschek, Astrid; Schara-Schmidt, Ulrike; Brunet, Theresa; Wagner, Matias; Smirnov, Dimitri; Prokisch, Holger; Wortmann, Saskia B. und Rostasy, Kevin
(2022):
Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initially.
In: European Journal of Paediatric Neurology, Bd. 41: S. 27-35
Zech, Michael; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Svantnerova, Jana; Wagner, Matias; Sadr-Nabavi, Ariane; Distelmaier, Felix; Krenn, Martin; Serranova, Tereza; Rektorova, Irena; Havrankova, Petra; Mosejova, Alexandra; Prihodova, Iva; Sarlakova, Jana; Kulcsarova, Kristina; Ulmanova, Olga; Bechyne, Karel; Ostrozovicova, Miriam; Han, Vladimir; Ventosa, Joaquim Ribeiro; Brunet, Theresa; Berutti, Riccardo; Shariati, Mohammad; Shoeibi, Ali; Schneider, Susanne A.; Kuster, Alice; Baumann, Matthias; Weise, David; Wilbert, Friederike; Janzarik, Wibke G.; Eckenweiler, Matthias; Mall, Volker; Haslinger, Bernhard; Berweck, Steffen; Winkelmann, Juliane und Oexle, Konrad
(2021):
Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study.
In: Movement Disorders, Bd. 36, Nr. 8: S. 1959-1964
[PDF, 488kB]
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]
Lotz-Havla, Amelie S.; Weiß, Katharina J.; Schiergens, Katharina A.; Brunet, Theresa; Kohlhase, Jürgen; Regenauer-Vandewiele, Stephanie und Maier, Esther M.
(2021):
Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections.
In: Orphanet journal of rare diseases, Bd. 16, Nr. 1, 215
[PDF, 1MB]
Wagner, Matias; Lorenz, Georg; Volk, Alexander E.; Brunet, Theresa; Edbauer, Dieter; Berutti, Riccardo; Zhao, Chen; Anderl-Straub, Sarah; Bertram, Lars; Danek, Adrian ORCID: https://orcid.org/0000-0001-8857-5383; Deschauer, Marcus; Dill, Veronika; Fassbender, Klaus; Fliessbach, Klaus; Goetze, Katharina S.; Jahn, Holger; Kornhuber, Johannes; Landwehrmeyer, Bernhard; Lauer, Martin; Obrig, Hellmuth; Prudlo, Johannes; Schneider, Anja; Schroeter, Matthias L.; Uttner, Ingo; Vukovich, Ruth; Wiltfang, Jens; Winkler, Andrea S.; Zhou, Qihui; Ludolph, Albert C.; Oexle, Konrad; Otto, Markus; Diehl-Schmid, Janine und Winkelmann, Juliane
(2021):
Clinico-genetic findings in 509 frontotemporal dementia patients.
In: Molecular Psychiatry, Bd. 26, Nr. 10: S. 5824-5832
[PDF, 1MB]
ORCID: https://orcid.org/0000-0001-8857-5383; Deschauer, Marcus; Dill, Veronika; Fassbender, Klaus; Fliessbach, Klaus; Goetze, Katharina S.; Jahn, Holger; Kornhuber, Johannes; Landwehrmeyer, Bernhard; Lauer, Martin; Obrig, Hellmuth; Prudlo, Johannes; Schneider, Anja; Schroeter, Matthias L.; Uttner, Ingo; Vukovich, Ruth; Wiltfang, Jens; Winkler, Andrea S.; Zhou, Qihui; Ludolph, Albert C.; Oexle, Konrad; Otto, Markus; Diehl-Schmid, Janine und Winkelmann, Juliane
(2021):
Clinico-genetic findings in 509 frontotemporal dementia patients.
In: Molecular Psychiatry, Bd. 26, Nr. 10: S. 5824-5832
[PDF, 1MB]
Mirza-Schreiber, Nazanin; Zech, Michael; Wilson, Rory; Brunet, Theresa; Wagner, Matias; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Weise, David; Weber, Sandrina; Mollenhauer, Brit; Trenkwalder, Claudia; Maier, Esther M.; Borggraefe, Ingo; Vill, Katharina; Hackenberg, Annette; Pilshofer, Veronika; Kotzaeridou, Urania; Schwaibold, Eva Maria Christina; Hoefele, Julia; Waldenberger, Melanie; Gieger, Christian; Peters, Annette; Meitinger, Thomas; Schormair, Barbara; Winkelmann, Juliane und Oexle, Konrad
(2021):
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
In: Brain, Bd. 145, Nr. 2: S. 644-654
[PDF, 1MB]
Lotz-Havla, Amelie S.; Weiß, Katharina J.; Schiergens, Katharina A.; Brunet, Theresa; Kohlhase, Jürgen; Regenauer-Vandewiele, Stephanie und Maier, Esther M.
(2021):
Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections.
In: Orphanet Journal of Rare Diseases, Bd. 16, Nr. 1, 215
Li, Dong; Wang, Qin; Gong, Naihua N.; Kurolap, Alina; Feldman, Hagit Baris; Boy, Nikolas; Brugger, Melanie; Grand, Katheryn; McWalter, Kirsty; Sacoto, Maria J. Guillen; Wakeling, Emma; Hurst, Jane; March, Michael E.; Bhoj, Elizabeth J.; Nowaczyk, Malgorzata J. M.; Gonzaga-Jauregui, Claudia; Mathew, Mariam; Dava-Wala, Ashita; Siemon, Amy; Bartholomew, Dennis; Huang, Yue; Lee, Hane; Martinez-Agosto, Julian A.; Schwaibold, Eva M. C.; Brunet, Theresa; Choukair, Daniela; Pais, Lynn S.; White, Susan M.; Christodoulou, John; Brown, Dana; Lindstrom, Kristin; Grebe, Theresa; Tiosano, Dov; Kayser, Matthew S.; Tan, Tiong Yang; Deardorff, Matthew A.; Song, Yuanquan und Hakonarson, Hakon
(2021):
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.
In: Science Advances, Bd. 7, Nr. 20, eabf2066
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]
Becker, Johanna; Haas, Nikolaus A.; Vlaho, Stefan; Heineking, Beatrice; Wortmann, Saskia B.; Rabenhorst, Dorothee; Thomas, Clara und Brunet, Theresa
(2021):
Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency: Cause of Hypoglycemia-Induced Seizure and Death.
In: Neuropediatrics, Bd. 52, Nr. 5: S. 398-402
Mirza-Schreiber, Nazanin ORCID: https://orcid.org/0000-0003-0836-8267; Zech, Michael; Wilson, Rory; Brunet, Theresa; Wagner, Matias ORCID: https://orcid.org/0000-0002-4454-8823; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Necpál, Ján; Weise, David; Weber, Sandrina; Mollenhauer, Brit; Trenkwalder, Claudia; Maier, Esther M; Borggraefe, Ingo; Vill, Katharina; Hackenberg, Annette; Pilshofer, Veronika; Kotzaeridou, Urania; Schwaibold, Eva Maria Christina; Hoefele, Julia; Waldenberger, Melanie; Gieger, Christian; Peters, Annette ORCID: https://orcid.org/0000-0001-6645-0985; Meitinger, Thomas; Schormair, Barbara; Winkelmann, Juliane und Oexle, Konrad ORCID: https://orcid.org/0000-0001-7447-2252
(2021):
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
In: Brain, Bd. 145, Nr. 2: S. 644-654
[PDF, 1MB]
ORCID: https://orcid.org/0000-0003-0836-8267; Zech, Michael; Wilson, Rory; Brunet, Theresa; Wagner, Matias ORCID: https://orcid.org/0000-0002-4454-8823; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Necpál, Ján; Weise, David; Weber, Sandrina; Mollenhauer, Brit; Trenkwalder, Claudia; Maier, Esther M; Borggraefe, Ingo; Vill, Katharina; Hackenberg, Annette; Pilshofer, Veronika; Kotzaeridou, Urania; Schwaibold, Eva Maria Christina; Hoefele, Julia; Waldenberger, Melanie; Gieger, Christian; Peters, Annette ORCID: https://orcid.org/0000-0001-6645-0985; Meitinger, Thomas; Schormair, Barbara; Winkelmann, Juliane und Oexle, Konrad ORCID: https://orcid.org/0000-0001-7447-2252
(2021):
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
In: Brain, Bd. 145, Nr. 2: S. 644-654
[PDF, 1MB]
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]
Zech, Michael; Brunet, Theresa; Skorvanek, Matej; Blaschek, Astrid; Vill, Katharina; Hanker, Britta; Huning, Irina; Han, Vladimir; Dosekova, Petra; Gdovinova, Zuzana; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M.; Ruzicka, Evzen; Kamsteeg, Erik-Jan; Smagt, Jasper J. van der; Wagner, Matias; Jech, Robert und Winkelmann, Juliane
(2020):
Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
In: Parkinsonism & Related Disorders, Bd. 77: S. 70-75
Brugger, Melanie; Becker-Dettling, Fiona; Brunet, Theresa; Strom, Tim; Meitinger, Thomas; Lurz, Eberhard; Borggraefe, Ingo und Wagner, Matias
(2020):
A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy.
In: Annals of Clinical and Translational Neurology, Bd. 8, Nr. 1: S. 278-283
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