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Veröffentlichungsdatum
Anzahl der Publikationen: 7
2024
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]
2023
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]
2022
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
2019
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