Publikationen von Skorvanek, Matej

Zur erweiterten Suche

Eine Ebene höher

Gruppiert nach: Dokumententyp | Veröffentlichungsdatum

Springe zu: Zeitschriftenartikel

Anzahl der Publikationen: 23

Zeitschriftenartikel

Harrer, Philip; Krygier, Magdalena

; Krenn, Martin

; Kittke, Volker; Danis, Martin; Krastev, Georgi; Saparov, Alice; Pichon, Virginie; Malbos, Marlène; Scherer, Clarisse; Dzinovic, Ivana; Skorvanek, Matej

; Kopajtich, Robert; Prokisch, Holger; Silvaieh, Sara; Grisold, Anna; Mazurkiewicz‐Bełdzińska, Maria; Sainte Agathe, Jean‐Madeleine de; Winkelmann, Juliane

; Necpal, Jan

; Jech, Robert

und Zech, Michael

(2025): Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase. In: Movement Disorders [Forthcoming]

Zech, Michael; Dzinovic, Ivana; Skorvanek, Matej; Harrer, Philip; Necpal, Jan; Kopajtich, Robert; Kittke, Volker; Tilch, Erik; Zhao, Chen; Tsoma, Eugenia; Sorrentino, Ugo; Indelicato, Elisabetta

; Stehr, Antonia; Saparov, Alice; Abela, Lucia; Adamovicova, Miriam; Afenjar, Alexandra; Assmann, Birgit; Baloghova, Janette; Baumann, Matthias; Berutti, Riccardo; Brezna, Zuzana; Brugger, Melanie

; Brunet, Theresa

; Cogne, Benjamin; Colangelo, Isabel; Conboy, Erin; Distelmaier, Felix

; Eckenweiler, Matthias; Garavaglia, Barbara; Geerlof, Arie; Graf, Elisabeth; Hackenberg, Annette; Harvanova, Denisa; Haslinger, Bernhard; Havrankova, Petra; Hoffmann, Georg F.; Janzarik, Wibke G.; Keren, Boris; Kolnikova, Miriam; Kolokotronis, Konstantinos; Kosutzka, Zuzana; Koy, Anne

; Krenn, Martin; Krygier, Magdalena; Kusikova, Katarina; Maier, Oliver; Meitinger, Thomas; Mertes, Christian; Milenkovic, Ivan; Monfrini, Edoardo

; Santos Dias Mourao, Andre; Musacchio, Thomas; Nizon, Mathilde; Ostrozovicova, Miriam

; Pavlov, Martin; Prihodova, Iva; Rektorova, Irena; Romito, Luigi M.

; Rybanska, Barbora; Sadr-Nabavi, Ariane; Schwenger, Susanne; Shoeibi, Ali; Sitzberger, Alexandra; Smirnov, Dmitrii; Svantnerova, Jana; Tautanova, Raushana; Toelle, Sandra P.; Ulmanova, Olga; Vetrini, Francesco; Vill, Katharina; Wagner, Matias

; Weise, David; Zorzi, Giovanna; Di Fonzo, Alessio

; Oexle, Konrad; Berweck, Steffen; Mall, Volker; Boesch, Sylvia; Schormair, Barbara

; Prokisch, Holger; Jech, Robert und Winkelmann, Juliane (2025): Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia. In: Brain [Forthcoming]

Indelicato, Elisabetta; Schlieben, Lea D.; Stenton, Sarah L.; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Jech, Robert; Winkelmann, Juliane; Prokisch, Holger und Zech, Michael (2024): Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients. In: Journal of Neurology [Forthcoming] [PDF, 584kB]

Vollstedt, Eva-Juliane; Schaake, Susen; Lohmann, Katja; Padmanabhan, Shalini; Brice, Alexis; Lesage, Suzanne; Tesson, Christelle; Vidailhet, Marie; Wurster, Isabel; Hentati, Faycel; Mirelman, Anat; Giladi, Nir; Marder, Karen; Waters, Cheryl; Fahn, Stanley; Kasten, Meike; Bruggemann, Norbert; Borsche, Max; Foroud, Tatiana; Tolosa, Eduardo; Garrido, Alicia; Annesi, Grazia; Gagliardi, Monica; Bozi, Maria; Stefanis, Leonidas; Ferreira, Joaquim J.; Guedes, Leonor Correia; Avenali, Micol; Petrucci, Simona; Clark, Lorraine; Fedotova, Ekaterina Y.; Abramycheva, Natalya Y.; Alvarez, Victoria; Menendez-Gonzalez, Manuel; Maestre, Silvia Jesus; Gomez-Garre, Pilar; Mir, Pablo; Belin, Andrea Carmine; Ran, Caroline; Lin, Chin-Hsien; Kuo, Ming-Che; Crosiers, David; Wszolek, Zbigniew K.; Ross, Owen A.; Jankovic, Joseph; Nishioka, Kenya; Funayama, Manabu; Clarimon, Jordi; Williams-Gray, Caroline H.; Camacho, Marta; Cornejo-Olivas, Mario; Torres-Ramirez, Luis; Wu, Yih-Ru; Lee-Chen, Guey-Jen; Morgadinho, Ana; Pulkes, Teeratorn; Termsarasab, Pichet; Berg, Daniela; Kuhlenbaumer, Gregor; Kuhn, Andrea A.; Borngraeber, Friederike; de Michele, Giuseppe; De Rosa, Anna; Zimprich, Alexander; Puschmann, Andreas; Mellick, George D.; Dorszewska, Jolanta; Carr, Jonathan; Ferese, Rosangela; Gambardella, Stefano; Chase, Bruce; Markopoulou, Katerina; Satake, Wataru; Toda, Tatsushi; Rossi, Malco; Merello, Marcelo; Lynch, Timothy; Olszewska, Diana A.; Lim, Shen-Yang; Ahmad-Annuar, Azlina; Tan, Ai Huey; Al-Mubarak, Bashayer; Hanagasi, Hasmet; Koziorowski, Dariusz; Ertan, Sibel; Genc, Gencer; Aguiar, Patricia de Carvalho; Barkhuizen, Melinda; Pimentel, Marcia M. G.; Saunders-Pullman, Rachel; van de Warrenburg, Bart; Bressman, Susan; Toft, Mathias; Appel-Cresswell, Silke; Lang, Anthony E.; Skorvanek, Matej; Boon, Agnita J. W.; Kruger, Rejko; Sammler, Esther M.; Tumas, Vitor; Zhang, Bao-Rong; Garraux, Gaetan; Chung, Sun Ju; Kim, Yun Joong; Winkelmann, Juliane; Sue, Carolyn M.; Tan, Eng-King; Damasio, Joana; Klivenyi, Peter; Kostic, Vladimir S.; Arkadir, David; Martikainen, Mika; Borges, Vanderci; Hertz, Jens Michael; Brighina, Laura; Spitz, Mariana; Suchowersky, Oksana; Riess, Olaf; Das, Parimal; Mollenhauer, Brit; Gatto, Emilia M.; Petersen, Maria Skaalum; Hattori, Nobutaka; Wu, Ruey-Meei; Illarioshkin, Sergey N.; Valente, Enza Maria; Aasly, Jan O.; Aasly, Anna; Alcalay, Roy N.; Thaler, Avner; Farrer, Matthew J.; Brockmann, Kathrin; Corvol, Jean-Christophe und Klein, Christine (2023): Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort. In: Movement Disorders, Bd. 38, Nr. 2: S. 286-303 [PDF, 1MB]

Harrer, Philip; Skorvanek, Matej; Kittke, Volker; Dzinovic, Ivana; Borngraeber, Friederike; Thomsen, Mirja; Mandel, Vanessa; Svorenova, Tatiana; Ostrozovicova, Miriam; Kulcsarova, Kristina; Berutti, Riccardo; Busch, Hauke; Ott, Fabian; Kopajtich, Robert; Prokisch, Holger; Kumar, Kishore R.; Mencacci, Niccolo E.; Kurian, Manju A.; Di Fonzo, Alessio; Boesch, Sylvia; Kuehn, Andrea A.; Bluemlein, Ulrike; Lohmann, Katja; Haslinger, Bernhard; Weise, David; Jech, Robert; Winkelmann, Juliane und Zech, Michael (2023): Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction. In: Movement Disorders, Bd. 38, Nr. 10: S. 1914-1924 [PDF, 1MB]

Smallwood, Kelly; Watt, Kristin E. N.; Ide, Satoru; Baltrunaite, Kristina; Brunswick, Chad; Inskeep, Katherine; Capannari, Corrine; Adam, Margaret P.; Begtrup, Amber; Bertola, Debora R.; Demmer, Laurie; Demo, Erin; Devinsky, Orrin; Gallagher, Emily R.; Sacoto, Maria J. Guillen; Jech, Robert; Keren, Boris; Kussmann, Jennifer; Ladda, Roger; Lansdon, Lisa A.; Lunke, Sebastian; Mardy, Anne; McWalters, Kirsty; Person, Richard; Raiti, Laura; Saitoh, Noriko; Saunders, Carol J.; Schnur, Rhonda; Skorvanek, Matej; Sell, Susan L.; Slavotinek, Anne; Sullivan, Bonnie R.; Stark, Zornitza; Symonds, Joseph D.; Wenger, Tara; Weber, Sacha; Whalen, Sandra; White, Susan M.; Winkelmann, Juliane; Zech, Michael; Zeidler, Shimriet; Maeshima, Kazuhiro; Stottmann, Rolf W.; Trainor, Paul A. und Weaver, K. Nicole (2023): POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies. In: American Journal of Human Genetics, Bd. 110, Nr. 5: S. 809-825

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

Skorvanek, Matej; Jech, Robert; Winkelmann, Juliane und Zech, Michael (2022): Progressive choreodystonia in X-linked hyper-IgM immunodeficiency: a rare but recurrent presentation. In: Annals of Clinical and Translational Neurology, Bd. 9, Nr. 4: S. 577-581 [PDF, 214kB]

Skorvanek, Matej; Baloghova, Janette; Kulcsarova, Kristina; Winkelmann, Juliane; Jech, Robert; Ostrozovicova, Miriam und Zech, Michael (2022): Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders: More Common than Expected. In: Movement Disorders, Bd. 37, Nr. 11: S. 2323-2324

Svorenova, Tatiana; Romito, Luigi M.; Colangelo, Isabel; Han, Vladimir; Jech, Robert; Prokisch, Holger; Winkelmann, Juliane; Skorvanek, Matej; Garavaglia, Barbara und Zech, Michael (2022): Dystonia as a prominent feature of TCF20-associated neurodevelopmental disorder: Expanding the phenotype. In: Parkinsonism & Related Disorders, Bd. 102: S. 89-91

Dzinovic, Ivana; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Svantnerova, Jana; Pavelekova, Petra; Havrankova, Petra; Tsoma, Eugenia; Indelicato, Elisabetta; Runkel, Eva; Held, Valentin; Weise, David; Janzarik, Wibke; Eckenweiler, Matthias; Berweck, Steffen; Mall, Volker; Haslinger, Bernhard; Jech, Robert; Winkelmann, Juliane und Zech, Michael (2022): Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes. In: Parkinsonism & Related Disorders, Bd. 102: S. 1-6

Zech, Michael; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Svantnerova, Jana; Wagner, Matias; Dincer, Yasemin; Sadr-Nabavi, Ariane; Serranova, Teresa; Rektorova, Irena; Havrankova, Petra; Ganai, Shahzaman; Mosejova, Alexandra; Prihodova, Iva; Sarlakova, Jana; Kulcsarova, Kristina; Ulmanova, Olga; Bechyne, Karel; Ostrozovicova, Miriam; Han, Vladimir; Ventosa, Joaquim Ribeiro; Shariati, Mohammad; Shoeibi, Ali; Weber, Sandrina; Mollenhauer, Brit; Trenkwalder, Claudia; Berutti, Riccardo; Strom, Tim M.; Ceballos-Baumann, Andres; Mall, Volker; Haslinger, Bernhard; Jech, Robert und Winkelmann, Juliane (2021): Clinically relevant copy-number variants in exome sequencing data of patients with dystonia. In: Parkinsonism & Related Disorders, Bd. 84: S. 129-134

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]

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]

Ostrozovicova, Miriama; Jech, Robert; Steel, Dora; Pavelekova, Petra; Han, Vladimir; Gdovinova, Zuzana; Lichtner, Peter; Kurian, Manju A.; Wiethoff, Sarah; Houlden, Henry; Havrankova, Petra; Winkelmann, Juliane; Zech, Michael und Skorvanek, Matej (2021): Recurrent VPS16 p.Arg187*Nonsense Variant in Early- Onset Generalized Dystonia. In: Movement Disorders, Bd. 36, Nr. 8, 28647: S. 1984-1985

Dzinovic, Ivana; Skorvanek, Matej; Necpal, Jan; Boesch, Sylvia; Svantnerova, Jana; Wagner, Matias; Havrankova, Petra; Pavelekova, Petra; Han, Vladimir; Janzarik, Wibke G.; Berweck, Steffen; Diebold, Isabel; Kuster, Alice; Jech, Robert; Winkelmann, Juliane und Zech, Michael (2021): Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series. In: Parkinsonism & Related Disorders, Bd. 90: S. 73-78

Dzinovic, Ivana; Skorvanek, Matej; Pavelekova, Petra; Zhao, Chen; Keren, Boris; Whalen, Sandra; Bakhtiari, Somayeh; Chih Jin, Sheng; Kruer, Michael C.; Jech, Robert; Winkelmann, Juliane und Zech, Michael (2021): Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome. In: Annals of Clinical and Translational Neurology, Bd. 8, Nr. 4: S. 951-955 [PDF, 248kB]

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; 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; 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; 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

Steel, Dora; Zech, Michael; Zhao, Chen; Barwick, Katy E. S.; Burke, Derek; Demailly, Diane; Kumar, Kishore R.; Zorzi, Giovanna; Nardocci, Nardo; Kaiyrzhanov, Rauan; Wagner, Matias; Iuso, Arcangela; Berutti, Riccardo; Skorvanek, Matej; Necpal, Jan; Davis, Ryan; Wiethoff, Sarah; Mankad, Kshitij; Sudhakar, Sniya; Ferrini, Arianna; Sharma, Suvasini; Kamsteeg, Erik-Jan; Tijssen, Marina A.; Verschuuren, Corien; Egmond, Martje E. van; Flowers, Joanna M.; McEntagart, Meriel; Tucci, Arianna; Coubes, Philippe; Bustos, Bernabe I.; Gonzalez-Latapi, Paulina; Tisch, Stephen; Darveniza, Paul; Gorman, Kathleen M.; Peall, Kathryn J.; Bötzel, Kai; Koch, Jan C.; Kmiec, Tomasz; Plecko, Barbara; Boesch, Sylvia; Haslinger, Bernhard; Jech, Robert; Garavaglia, Barbara; Wood, Nick; Houlden, Henry; Gissen, Paul; Lubbe, Steven J.; Sue, Carolyn M.; Cif, Laura; Mencacci, Niccolo E.; Anderson, Glenn; Kurian, Manju A. und Winkelmann, Juliane (2020): Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities. In: Annals of Neurology, Bd. 88, Nr. 5: S. 867-877 [PDF, 20MB]

Khan, Kamal; Zech, Michael; Morgan, Angela T.; Amor, David J.; Skorvanek, Matej; Khan, Tahir N.; Hildebrand, Michael S.; Jackson, Victoria E.; Scerri, Thomas S.; Coleman, Matthew; Rigbye, Kristin A.; Scheffer, Ingrid E.; Bahlo, Melanie; Wagner, Matias; Lam, Daniel D.; Berutti, Riccardo; Havrankova, Petra; Fecikova, Anna; Strom, Tim M.; Han, Vladimir; Dosekova, Petra; Gdovinova, Zuzana; Laccone, Franco; Jameel, Muhammad; Mooney, Marie R.; Baig, Shahid M.; Jech, Robert; Davis, Erica E.; Katsanis, Nicholas und Winkelmann, Juliane (2019): Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. In: Genetics in Medicine, Bd. 21, Nr. 11: S. 2532-2542 [PDF, 308kB]

Diese Liste wurde am Sat May 31 21:26:53 2025 CEST erstellt.

Exportieren als	RSS 1.0 RSS 2.0