![[höher]](/style/images/multi_up.png)
Eine Ebene höherGruppiert nach:
Dokumententyp
| Veröffentlichungsdatum
Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 11
Zeitschriftenartikel
Stehr, Antonia M.; Fischer, Jan; Mirza-Schreiber, Nazanin; Bernardi, Katerina; Porrmann, Joseph; Harrer, Philip; Kaiser, Frank; Jamra, Rami Abou; Winkelmann, Juliane 
ORCID: https://orcid.org/0000-0002-3074-599X; Jech, Robert; Koy, Anne; Oexle, Konrad und Zech, Michael
(2025):
Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders.
In: Parkinsonism & Related Disorders, Bd. 133, 107319
[PDF, 1MB]
ORCID: https://orcid.org/0000-0002-3074-599X; Jech, Robert; Koy, Anne; Oexle, Konrad und Zech, Michael
(2025):
Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders.
In: Parkinsonism & Related Disorders, Bd. 133, 107319
[PDF, 1MB]
Zech, Michael; Dzinovic, Ivana; Skorvanek, Matej; Harrer, Philip; Necpal, Jan; Kopajtich, Robert; Kittke, Volker; Tilch, Erik; Zhao, Chen; Tsoma, Eugenia; Sorrentino, Ugo; Indelicato, Elisabetta ORCID: https://orcid.org/0000-0003-0217-8630; Stehr, Antonia; Saparov, Alice; Abela, Lucia; Adamovicova, Miriam; Afenjar, Alexandra; Assmann, Birgit; Baloghova, Janette; Baumann, Matthias; Berutti, Riccardo; Brezna, Zuzana; Brugger, Melanie ORCID: https://orcid.org/0000-0002-6920-8550; Brunet, Theresa ORCID: https://orcid.org/0000-0002-5183-780X; Cogne, Benjamin; Colangelo, Isabel; Conboy, Erin; Distelmaier, Felix ORCID: https://orcid.org/0000-0001-8460-3738; 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 ORCID: https://orcid.org/0000-0002-7991-4432; Krenn, Martin; Krygier, Magdalena; Kusikova, Katarina; Maier, Oliver; Meitinger, Thomas; Mertes, Christian; Milenkovic, Ivan; Monfrini, Edoardo ORCID: https://orcid.org/0000-0003-4720-9234; Santos Dias Mourao, Andre; Musacchio, Thomas; Nizon, Mathilde; Ostrozovicova, Miriam ORCID: https://orcid.org/0000-0003-1519-1535; Pavlov, Martin; Prihodova, Iva; Rektorova, Irena; Romito, Luigi M. ORCID: https://orcid.org/0000-0002-6772-1035; 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 ORCID: https://orcid.org/0000-0002-4454-8823; Weise, David; Zorzi, Giovanna; Di Fonzo, Alessio ORCID: https://orcid.org/0000-0001-6478-026X; Oexle, Konrad; Berweck, Steffen; Mall, Volker; Boesch, Sylvia; Schormair, Barbara ORCID: https://orcid.org/0000-0003-0942-5243; Prokisch, Holger; Jech, Robert und Winkelmann, Juliane
(2025):
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
In: Brain [Forthcoming]
ORCID: https://orcid.org/0000-0003-0217-8630; Stehr, Antonia; Saparov, Alice; Abela, Lucia; Adamovicova, Miriam; Afenjar, Alexandra; Assmann, Birgit; Baloghova, Janette; Baumann, Matthias; Berutti, Riccardo; Brezna, Zuzana; Brugger, Melanie ORCID: https://orcid.org/0000-0002-6920-8550; Brunet, Theresa ORCID: https://orcid.org/0000-0002-5183-780X; Cogne, Benjamin; Colangelo, Isabel; Conboy, Erin; Distelmaier, Felix ORCID: https://orcid.org/0000-0001-8460-3738; 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 ORCID: https://orcid.org/0000-0002-7991-4432; Krenn, Martin; Krygier, Magdalena; Kusikova, Katarina; Maier, Oliver; Meitinger, Thomas; Mertes, Christian; Milenkovic, Ivan; Monfrini, Edoardo ORCID: https://orcid.org/0000-0003-4720-9234; Santos Dias Mourao, Andre; Musacchio, Thomas; Nizon, Mathilde; Ostrozovicova, Miriam ORCID: https://orcid.org/0000-0003-1519-1535; Pavlov, Martin; Prihodova, Iva; Rektorova, Irena; Romito, Luigi M. ORCID: https://orcid.org/0000-0002-6772-1035; 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 ORCID: https://orcid.org/0000-0002-4454-8823; Weise, David; Zorzi, Giovanna; Di Fonzo, Alessio ORCID: https://orcid.org/0000-0001-6478-026X; Oexle, Konrad; Berweck, Steffen; Mall, Volker; Boesch, Sylvia; Schormair, Barbara ORCID: https://orcid.org/0000-0003-0942-5243; Prokisch, Holger; Jech, Robert und Winkelmann, Juliane
(2025):
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
In: Brain [Forthcoming]
Harrer, Philip; Inderhees, Julica ORCID: https://orcid.org/0000-0003-4523-3652; Zhao, Chen; Schormair, Barbara; Tilch, Erik; Gieger, Christian; Peters, Annette ORCID: https://orcid.org/0000-0001-6645-0985; Jöhren, Olaf ORCID: https://orcid.org/0000-0002-0532-5133; Fleming, Thomas; Nawroth, Peter P.; Berger, Klaus; Hermesdorf, Marco ORCID: https://orcid.org/0000-0003-3541-7212; Winkelmann, Juliane; Schwaninger, Markus und Oexle, Konrad ORCID: https://orcid.org/0000-0001-7447-2252
(2024):
Phenotypic and genome-wide studies on dicarbonyls: major associations to glomerular filtration rate and gamma-glutamyltransferase activity.
In: eBioMedicine, Bd. 101, 105007
[PDF, 1MB]
ORCID: https://orcid.org/0000-0003-4523-3652; Zhao, Chen; Schormair, Barbara; Tilch, Erik; Gieger, Christian; Peters, Annette ORCID: https://orcid.org/0000-0001-6645-0985; Jöhren, Olaf ORCID: https://orcid.org/0000-0002-0532-5133; Fleming, Thomas; Nawroth, Peter P.; Berger, Klaus; Hermesdorf, Marco ORCID: https://orcid.org/0000-0003-3541-7212; Winkelmann, Juliane; Schwaninger, Markus und Oexle, Konrad ORCID: https://orcid.org/0000-0001-7447-2252
(2024):
Phenotypic and genome-wide studies on dicarbonyls: major associations to glomerular filtration rate and gamma-glutamyltransferase activity.
In: eBioMedicine, Bd. 101, 105007
[PDF, 1MB]
Indelicato, Elisabetta; Romito, Luigi Michele; Harrer, Philip; Andreasi, Nico Golfre; Colangelo, Isabel; Kopajtich, Robert; Winkelmann, Juliane; Prokisch, Holger; Garavaglia, Barbara und Zech, Michael
(2024):
Genome Aggregation Database Version 4-New Challenges of Variant Analysis in Movement Disorders.
In: Movement Disorders
[PDF, 210kB]
Schormair, Barbara ORCID: https://orcid.org/0000-0003-0942-5243; Zhao, Chen; Bell, Steven ORCID: https://orcid.org/0000-0001-6774-3149; Didriksen, Maria ORCID: https://orcid.org/0000-0002-4856-496X; Nawaz, Muhammad S.; Schandra, Nathalie; Stefani, Ambra ORCID: https://orcid.org/0000-0003-4259-8824; Högl, Birgit; Dauvilliers, Yves; Bachmann, Cornelius G.; Kemlink, David; Sonka, Karel; Paulus, Walter; Trenkwalder, Claudia; Oertel, Wolfgang H.; Hornyak, Magdolna; Teder-Laving, Maris; Metspalu, Andres; Hadjigeorgiou, Georgios M. ORCID: https://orcid.org/0000-0001-5386-4273; Polo, Olli; Fietze, Ingo; Ross, Owen A. ORCID: https://orcid.org/0000-0003-4813-756X; Wszolek, Zbigniew K. ORCID: https://orcid.org/0000-0001-5487-1053; Ibrahim, Abubaker; Bergmann, Melanie; Kittke, Volker ORCID: https://orcid.org/0000-0001-8866-1388; Harrer, Philip; Dowsett, Joseph ORCID: https://orcid.org/0000-0001-5381-2633; Chenini, Sofiene; Ostrowski, Sisse Rye ORCID: https://orcid.org/0000-0001-5288-3851; Sørensen, Erik; Erikstrup, Christian ORCID: https://orcid.org/0000-0001-6551-6647; Pedersen, Ole B. ORCID: https://orcid.org/0000-0003-2312-5976; Topholm Bruun, Mie ORCID: https://orcid.org/0000-0002-8819-5388; Nielsen, Kaspar R.; Butterworth, Adam S. ORCID: https://orcid.org/0000-0002-6915-9015; Soranzo, Nicole ORCID: https://orcid.org/0000-0003-1095-3852; Ouwehand, Willem H. ORCID: https://orcid.org/0000-0002-7744-1790; Roberts, David J.; Danesh, John; Burchell, Brendan; Furlotte, Nicholas A.; Nandakumar, Priyanka; Bonnefond, Amélie; Potier, Louis; Earley, Christopher J.; Ondo, William G.; Xiong, Lan; Desautels, Alex; Perola, Markus; Vodicka, Pavel; Dina, Christian ORCID: https://orcid.org/0000-0002-7722-7348; Stoll, Monika ORCID: https://orcid.org/0000-0002-2711-4281; Franke, Andre ORCID: https://orcid.org/0000-0003-1530-5811; Lieb, Wolfgang ORCID: https://orcid.org/0000-0003-2544-4460; Stewart, Alexandre F. R. ORCID: https://orcid.org/0000-0003-2673-9164; Shah, Svati H.; Gieger, Christian ORCID: https://orcid.org/0000-0001-6986-9554; Peters, Annette ORCID: https://orcid.org/0000-0001-6645-0985; Rye, David B.; Rouleau, Guy A.; Berger, Klaus; Stefansson, Hreinn; Ullum, Henrik; Stefansson, Kari; Hinds, David A. ORCID: https://orcid.org/0000-0002-4911-803X; Di Angelantonio, Emanuele; Oexle, Konrad ORCID: https://orcid.org/0000-0001-7447-2252 und Winkelmann, Juliane ORCID: https://orcid.org/0000-0002-3074-599X
(2024):
Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction.
In: Nature Genetics, Bd. 56, Nr. 6: S. 1090-1099
[PDF, 3MB]
ORCID: https://orcid.org/0000-0003-0942-5243; Zhao, Chen; Bell, Steven ORCID: https://orcid.org/0000-0001-6774-3149; Didriksen, Maria ORCID: https://orcid.org/0000-0002-4856-496X; Nawaz, Muhammad S.; Schandra, Nathalie; Stefani, Ambra ORCID: https://orcid.org/0000-0003-4259-8824; Högl, Birgit; Dauvilliers, Yves; Bachmann, Cornelius G.; Kemlink, David; Sonka, Karel; Paulus, Walter; Trenkwalder, Claudia; Oertel, Wolfgang H.; Hornyak, Magdolna; Teder-Laving, Maris; Metspalu, Andres; Hadjigeorgiou, Georgios M. ORCID: https://orcid.org/0000-0001-5386-4273; Polo, Olli; Fietze, Ingo; Ross, Owen A. ORCID: https://orcid.org/0000-0003-4813-756X; Wszolek, Zbigniew K. ORCID: https://orcid.org/0000-0001-5487-1053; Ibrahim, Abubaker; Bergmann, Melanie; Kittke, Volker ORCID: https://orcid.org/0000-0001-8866-1388; Harrer, Philip; Dowsett, Joseph ORCID: https://orcid.org/0000-0001-5381-2633; Chenini, Sofiene; Ostrowski, Sisse Rye ORCID: https://orcid.org/0000-0001-5288-3851; Sørensen, Erik; Erikstrup, Christian ORCID: https://orcid.org/0000-0001-6551-6647; Pedersen, Ole B. ORCID: https://orcid.org/0000-0003-2312-5976; Topholm Bruun, Mie ORCID: https://orcid.org/0000-0002-8819-5388; Nielsen, Kaspar R.; Butterworth, Adam S. ORCID: https://orcid.org/0000-0002-6915-9015; Soranzo, Nicole ORCID: https://orcid.org/0000-0003-1095-3852; Ouwehand, Willem H. ORCID: https://orcid.org/0000-0002-7744-1790; Roberts, David J.; Danesh, John; Burchell, Brendan; Furlotte, Nicholas A.; Nandakumar, Priyanka; Bonnefond, Amélie; Potier, Louis; Earley, Christopher J.; Ondo, William G.; Xiong, Lan; Desautels, Alex; Perola, Markus; Vodicka, Pavel; Dina, Christian ORCID: https://orcid.org/0000-0002-7722-7348; Stoll, Monika ORCID: https://orcid.org/0000-0002-2711-4281; Franke, Andre ORCID: https://orcid.org/0000-0003-1530-5811; Lieb, Wolfgang ORCID: https://orcid.org/0000-0003-2544-4460; Stewart, Alexandre F. R. ORCID: https://orcid.org/0000-0003-2673-9164; Shah, Svati H.; Gieger, Christian ORCID: https://orcid.org/0000-0001-6986-9554; Peters, Annette ORCID: https://orcid.org/0000-0001-6645-0985; Rye, David B.; Rouleau, Guy A.; Berger, Klaus; Stefansson, Hreinn; Ullum, Henrik; Stefansson, Kari; Hinds, David A. ORCID: https://orcid.org/0000-0002-4911-803X; Di Angelantonio, Emanuele; Oexle, Konrad ORCID: https://orcid.org/0000-0001-7447-2252 und Winkelmann, Juliane ORCID: https://orcid.org/0000-0002-3074-599X
(2024):
Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction.
In: Nature Genetics, Bd. 56, Nr. 6: S. 1090-1099
[PDF, 3MB]
Kittke, Volker ORCID: https://orcid.org/0000-0001-8866-1388; Zhao, Chen; Lam, Daniel D.; Harrer, Philip; Krezel, Wojciech; Schormair, Barbara ORCID: https://orcid.org/0000-0003-0942-5243; Oexle, Konrad ORCID: https://orcid.org/0000-0001-7447-2252 und Winkelmann, Juliane ORCID: https://orcid.org/0000-0002-3074-599X
(2024):
RLS-associated MEIS transcription factors control distinct processes in human neural stem cells.
In: Scientific Reports, Bd. 14, 28986
[PDF, 3MB]
ORCID: https://orcid.org/0000-0001-8866-1388; Zhao, Chen; Lam, Daniel D.; Harrer, Philip; Krezel, Wojciech; Schormair, Barbara ORCID: https://orcid.org/0000-0003-0942-5243; Oexle, Konrad ORCID: https://orcid.org/0000-0001-7447-2252 und Winkelmann, Juliane ORCID: https://orcid.org/0000-0002-3074-599X
(2024):
RLS-associated MEIS transcription factors control distinct processes in human neural stem cells.
In: Scientific Reports, Bd. 14, 28986
[PDF, 3MB]
Harrer, Philip; Mirza‐Schreiber, Nazanin; Mandel, Vanessa; Roeber, Sigrun; Stefani, Ambra ORCID: https://orcid.org/0000-0003-4259-8824; Naher, Shamsun; Wagner, Matias ORCID: https://orcid.org/0000-0002-4454-8823; Gieger, Christian; Waldenberger, Melanie; Peters, Annette ORCID: https://orcid.org/0000-0001-6645-0985; Högl, Birgit; Herms, Jochen; Schormair, Barbara ORCID: https://orcid.org/0000-0003-0942-5243; Zhao, Chen; Winkelmann, Juliane und Oexle, Konrad ORCID: https://orcid.org/0000-0001-7447-2252
(2023):
Epigenetic Association Analyses and Risk Prediction of RLS.
In: Movement Disorders, Bd. 38, Nr. 8: S. 1410-1418
[PDF, 685kB]
ORCID: https://orcid.org/0000-0003-4259-8824; Naher, Shamsun; Wagner, Matias ORCID: https://orcid.org/0000-0002-4454-8823; Gieger, Christian; Waldenberger, Melanie; Peters, Annette ORCID: https://orcid.org/0000-0001-6645-0985; Högl, Birgit; Herms, Jochen; Schormair, Barbara ORCID: https://orcid.org/0000-0003-0942-5243; Zhao, Chen; Winkelmann, Juliane und Oexle, Konrad ORCID: https://orcid.org/0000-0001-7447-2252
(2023):
Epigenetic Association Analyses and Risk Prediction of RLS.
In: Movement Disorders, Bd. 38, Nr. 8: S. 1410-1418
[PDF, 685kB]
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]
Harrer, Philip; Schalk, Audrey; Shimura, Masaru; Baer, Sarah; Calmels, Nadege; Spitz, Marie Aude; Warde, Marie-Therese Abi; Schaefer, Elise; Kittke, Volker M. Sc; Dincer, Yasemin; Wagner, Matias; Dzinovic, Ivana; Berutti, Riccardo; Sato, Tatsuharu; Shirakawa, Toshihiko; Okazaki, Yasushi; Murayama, Kei; Oexle, Konrad; Prokisch, Holger; Mall, Volker; Melcak, Ivo; Winkelmann, Juliane und Zech, Michael
(2023):
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.
In: Annals of Neurology, Bd. 93, Nr. 2: S. 330-335
[PDF, 1MB]
Harrer, Philip; Leppmeier, Verena; Berger, Andrea; Demund, Simone; Winkelmann, Juliane; Berweck, Steffen und Zech, Michael
(2022):
A de novo BCL11B variant case manifesting with dystonic movement disorder regarding the article BCL11B-related disorder in two canadian children: Expanding the clinical phenotype (Prasad et al., 2020).
In: European Journal of Medical Genetics, Bd. 65, Nr. 11, 104635
Bartesaghi, Luca; Wang, Yiqiao; Fontanet, Paula; Wanderoy, Simone; Berger, Finja; Wu, Haohao; Akkuratova, Natalia; Boucanova, Filipa; Medard, Jean-Jacques; Petitpre, Charles; Landy, Mark A.; Zhang, Ming-Dong; Harrer, Philip; Stendel, Claudia; Stucka, Rolf; Dusl, Marina; Kastriti, Maria Eleni; Croci, Laura; Lai, Helen C.; Consalez, Gian Giacomo; Pattyn, Alexandre; Ernfors, Patrik; Senderek, Jan; Adameyko, Igor; Lallemend, Francois; Hadjab, Saida und Chrast, Roman
(2019):
PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis.
In: Cell Reports, Bd. 26, Nr. 13