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Anzahl der Publikationen: 111
Zeitschriftenartikel
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]
Lange de Luna, Julia; Nounu, Aayah; Neumeyer, Sonja; Sinke, Lucy; Wilson, Rory; Hellbach, Fabian; Matías-García, Pamela R.; Delerue, Thomas; Winkelmann, Juliane; Peters, Annette ORCID: https://orcid.org/0000-0001-6645-0985; Thorand, Barbara; Beekman, Marian; Heijmans, Bastiaan T.; Slagboom, Eline; Gieger, Christian; Linseisen, Jakob ORCID: https://orcid.org/0000-0002-9386-382X und Waldenberger, Melanie
(2024):
Epigenome-wide association study of dietary fatty acid intake.
In: Clinical Epigenetics, Bd. 16, Nr. 1, 29
[PDF, 2MB]
ORCID: https://orcid.org/0000-0001-6645-0985; Thorand, Barbara; Beekman, Marian; Heijmans, Bastiaan T.; Slagboom, Eline; Gieger, Christian; Linseisen, Jakob ORCID: https://orcid.org/0000-0002-9386-382X und Waldenberger, Melanie
(2024):
Epigenome-wide association study of dietary fatty acid intake.
In: Clinical Epigenetics, Bd. 16, Nr. 1, 29
[PDF, 2MB]
Hellbach, Fabian; Freuer, Dennis; Meisinger, Christa; Peters, Annette ORCID: https://orcid.org/0000-0001-6645-0985; Winkelmann, Juliane; Costeira, Ricardo; Hauner, Hans; Baumeister, Sebastian-Edgar; Bell, Jordana T.; Waldenberger, Melanie und Linseisen, Jakob ORCID: https://orcid.org/0000-0002-9386-382X
(2024):
Usual dietary intake and change in DNA methylation over years: EWAS in KORA FF4 and KORA fit.
In: Frontiers in Nutrition, Bd. 10, 1295078
[PDF, 218kB]
ORCID: https://orcid.org/0000-0001-6645-0985; Winkelmann, Juliane; Costeira, Ricardo; Hauner, Hans; Baumeister, Sebastian-Edgar; Bell, Jordana T.; Waldenberger, Melanie und Linseisen, Jakob ORCID: https://orcid.org/0000-0002-9386-382X
(2024):
Usual dietary intake and change in DNA methylation over years: EWAS in KORA FF4 and KORA fit.
In: Frontiers in Nutrition, Bd. 10, 1295078
[PDF, 218kB]
Leu, Chia-Luen; Lam, Daniel D.; Salminen, Aaro; Wefers, Benedikt; Becker, Lore; Garrett, Lillian; Rozman, Jan; Wurst, Wolfgang; de Angelis, Martin Hrabe; Hoelter, Sabine M.; Winkelmann, Juliane und Williams, Rhiannan H.
(2024):
A patient-enriched MEIS1 coding variant causes a restless legs syndrome-like phenotype in mice.
In: Sleep, Bd. 47, Nr. 5
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
Dvoretskova, Elena; Ho, May C.; Kittke, Volker; Neuhaus, Florian; Vitali, Ilaria; Lam, Daniel D.; Delgado, Irene; Feng, Chao; Torres, Miguel; Winkelmann, Juliane und Mayer, Christian
(2024):
Spatial enhancer activation influences inhibitory neuron identity during mouse embryonic development.
In: Nature Neuroscience, Bd. 27, Nr. 5
[PDF, 13MB]
Zech, Michael und Winkelmann, Juliane
(2024):
Next-generation sequencing and bioinformatics in rare movement disorders.
In: Nature Reviews Neurology, Bd. 20, Nr. 2: S. 114-126
[PDF, 355kB]
Indelicato, Elisabetta; Boesch, Sylvia; Havrankova, Petra; Prihodova, Iva; Winkelmann, Juliane; Jech, Robert und Zech, Michael
(2024):
SOXopathies and dystonia: Consolidation of a recurrent association.
In: Parkinsonism & Related Disorders, Bd. 119, 105960
Brugger, Melanie; Lauri, Antonella; Zhen, Yan; Gramegna, Laura L.; Zott, Benedikt; Sekulic, Nikolina; Fasano, Giulia; Kopajtich, Robert; Cordeddu, Viviana; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Paradisi, Graziamaria; Zanni, Ginevra; Vasco, Gessica; Carrozzo, Rosalba; Palombo, Flavia; Tonon, Caterina; Lodi, Raffaele; Morgia, Chiara La; Arelin, Maria; Blechschmidt, Cristiane; Finck, Tom; Sorensen, Vigdis; Kreiser, Kornelia; Strobl-Wildemann, Gertrud; Daum, Hagit; Michaelson-Cohen, Rachel; Ziccardi, Lucia; Zampino, Giuseppe; Prokisch, Holger; Jamra, Rami Abou; Fiorini, Claudio; Arzberger, Thomas; Winkelmann, Juliane; Caporali, Leonardo; Carelli, Valerio; Stenmark, Harald; Tartaglia, Marco und Wagner, Matias
(2024):
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
In: American Journal of Human Genetics, Bd. 111, Nr. 3
[PDF, 7MB]
Sorrentino, Ugo; Boesch, Sylvia; Doummar, Diane; Ravelli, Claudia; Serranova, Tereza; Indelicato, Elisabetta; Winkelmann, Juliane; Burglen, Lydie; Jech, Robert und Zech, Michael
(2024):
CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes.
In: Journal of Neurology, Bd. 271, Nr. 5: S. 2859-2865
[PDF, 467kB]
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]
Indelicato, Elisabetta; Boesch, Sylvia; Mencacci, Niccolo; Ghezzi, Daniele; Prokisch, Holger; Winkelmann, Juliane und Zech, Michael
(2024):
Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine.
In: Movement Disorders, Bd. 39, Nr. 1: S. 29-35
[PDF, 408kB]
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]
Sorrentino, Ugo ORCID: https://orcid.org/0000-0001-8139-6198; Romito, Luigi M. ORCID: https://orcid.org/0000-0002-6772-1035; Garavaglia, Barbara ORCID: https://orcid.org/0000-0003-4323-9145; Fichera, Mario ORCID: https://orcid.org/0000-0002-9609-3787; Colangelo, Isabel ORCID: https://orcid.org/0000-0001-6402-9417; Prokisch, Holger ORCID: https://orcid.org/0000-0003-2379-6286; Winkelmann, Juliane ORCID: https://orcid.org/0000-0002-3074-599X; Necpal, Jan ORCID: https://orcid.org/0000-0002-4626-9588; Jech, Robert ORCID: https://orcid.org/0000-0002-9732-8947 und Zech, Michael ORCID: https://orcid.org/0000-0001-8112-9153
(2024):
Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant.
In: Tremor and Other Hyperkinetic Movements, Bd. 14, Nr. 1, 16: S. 1-9
[PDF, 2MB]
ORCID: https://orcid.org/0000-0001-8139-6198; Romito, Luigi M. ORCID: https://orcid.org/0000-0002-6772-1035; Garavaglia, Barbara ORCID: https://orcid.org/0000-0003-4323-9145; Fichera, Mario ORCID: https://orcid.org/0000-0002-9609-3787; Colangelo, Isabel ORCID: https://orcid.org/0000-0001-6402-9417; Prokisch, Holger ORCID: https://orcid.org/0000-0003-2379-6286; Winkelmann, Juliane ORCID: https://orcid.org/0000-0002-3074-599X; Necpal, Jan ORCID: https://orcid.org/0000-0002-4626-9588; Jech, Robert ORCID: https://orcid.org/0000-0002-9732-8947 und Zech, Michael ORCID: https://orcid.org/0000-0001-8112-9153
(2024):
Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant.
In: Tremor and Other Hyperkinetic Movements, Bd. 14, Nr. 1, 16: S. 1-9
[PDF, 2MB]
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]
Keshawarz, Amena ORCID: https://orcid.org/0000-0002-4645-2411; Joehanes, Roby; Ma, Jiantao; Lee, Gha Young; Costeira, Ricardo; Tsai, Pei-Chien ORCID: https://orcid.org/0000-0003-1575-9020; Masachs, Olatz M.; Bell, Jordana T.; Wilson, Rory; Thorand, Barbara; Winkelmann, Juliane; Peters, Annette ORCID: https://orcid.org/0000-0001-6645-0985; Linseisen, Jakob ORCID: https://orcid.org/0000-0002-9386-382X; Waldenberger, Melanie; Lehtimäki, Terho; Mishra, Pashupati P.; Kähönen, Mika; Raitakari, Olli; Helminen, Mika; Wang, Carol A.; Melton, Phillip E.; Huang, Rae-Chi; Pennell, Craig E.; O’Sullivan, Therese A.; Ochoa-Rosales, Carolina; Voortman, Trudy; Meurs, Joyce B.J. van; Young, Kristin L.; Graff, Misa; Wang, Yujie; Kiel, Douglas P.; Smith, Caren E.; Jacques, Paul F. und Levy, Daniel ORCID: https://orcid.org/0000-0003-1843-8724
(2023):
Dietary and supplemental intake of vitamins C and E is associated with altered DNA methylation in an epigenome-wide association study meta-analysis.
In: Epigenetics, Bd. 18, Nr. 1
[PDF, 1MB]
ORCID: https://orcid.org/0000-0002-4645-2411; Joehanes, Roby; Ma, Jiantao; Lee, Gha Young; Costeira, Ricardo; Tsai, Pei-Chien ORCID: https://orcid.org/0000-0003-1575-9020; Masachs, Olatz M.; Bell, Jordana T.; Wilson, Rory; Thorand, Barbara; Winkelmann, Juliane; Peters, Annette ORCID: https://orcid.org/0000-0001-6645-0985; Linseisen, Jakob ORCID: https://orcid.org/0000-0002-9386-382X; Waldenberger, Melanie; Lehtimäki, Terho; Mishra, Pashupati P.; Kähönen, Mika; Raitakari, Olli; Helminen, Mika; Wang, Carol A.; Melton, Phillip E.; Huang, Rae-Chi; Pennell, Craig E.; O’Sullivan, Therese A.; Ochoa-Rosales, Carolina; Voortman, Trudy; Meurs, Joyce B.J. van; Young, Kristin L.; Graff, Misa; Wang, Yujie; Kiel, Douglas P.; Smith, Caren E.; Jacques, Paul F. und Levy, Daniel ORCID: https://orcid.org/0000-0003-1843-8724
(2023):
Dietary and supplemental intake of vitamins C and E is associated with altered DNA methylation in an epigenome-wide association study meta-analysis.
In: Epigenetics, Bd. 18, Nr. 1
[PDF, 1MB]
Zanuttigh, Enrica; Derderian, Kevork; Guera, Miriam A.; Geerlof, Arie; Di Meo, Ivano; Cavestro, Chiara; Hempfling, Stefan; Ortiz-Collazos, Stephanie; Mauthe, Mario; Kmiec, Tomasz; Cammarota, Eugenia; Panzeri, Maria Carla; Klopstock, Thomas; Sattler, Michael; Winkelmann, Juliane; Messias, Ana C. und Iuso, Arcangela
(2023):
Identification of Autophagy as a Functional Target Suitable for the Pharmacological Treatment of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) In Vitro.
In: Pharmaceutics, Bd. 15, Nr. 1, 267
[PDF, 3MB]
Edelson, Jacob L.; Schneider, Logan D.; Amar, David; Brink-Kjaer, Andreas; Cederberg, Katie L.; Kutalik, Zoltan; Hagen, Erika W.; Peppard, Paul E.; Tempaku, Priscila Farias; Tufik, Sergio; Evans, Daniel S.; Stone, Katie; Tranah, Greg; Cade, Brian; Redline, Susan; Haba-Rubio, Jose; Heinzer, Raphael; Marques-Vidal, Pedro; Vollenweider, Peter; Winkelmann, Juliane; Zou, James und Mignot, Emmanuel
(2023):
The genetic etiology of periodic limb movement in sleep.
In: Sleep, Bd. 46, Nr. 4
[PDF, 9MB]
Nasca, Alessia; Mencacci, Niccolo E.; Invernizzi, Federica; Zech, Michael; Sarmiento, Ignacio J. Keller; Legati, Andrea; Frascarelli, Chiara; Bustos, Bernabe; Romito, Luigi M.; Krainc, Dimitri; Winkelmann, Juliane; Carecchio, Miryam; Nardocci, Nardo; Zorzi, Giovanna; Prokisch, Holger; Lubbe, Steven J.; Garavaglia, Barbara und Ghezzi, Daniele
(2023):
Variants in ATP5F1B are associated with dominantly inherited dystonia.
In: Brain, Bd. 146, Nr. 7: S. 2730-2738
[PDF, 913kB]
Ollila, Hanna M.; Sharon, Eilon; Lin, Ling; Sinnott-Armstrong, Nasa; Ambati, Aditya; Yogeshwar, Selina M.; Hillary, Ryan P.; Jolanki, Otto; Faraco, Juliette; Einen, Mali; Luo, Guo; Zhang, Jing; Han, Fang; Yan, Han; Dong, Xiao Song; Li, Jing; Zhang, Jun; Hong, Seung-Chul; Kim, Tae Won; Dauvilliers, Yves; Barateau, Lucie; Lammers, Gert Jan; Fronczek, Rolf; Mayer, Geert; Santamaria, Joan; Arnulf, Isabelle; Knudsen-Heier, Stine; Bredahl, May Kristin Lyamouri; Thorsby, Per Medboe; Plazzi, Giuseppe; Pizza, Fabio; Moresco, Monica; Crowe, Catherine; Van den Eeden, Stephen K.; Lecendreux, Michel; Bourgin, Patrice; Kanbayashi, Takashi; Martinez-Orozco, Francisco J.; Peraita-Adrados, Rosa; Beneto, Antonio; Montplaisir, Jacques; Desautels, Alex; Huang, Yu-Shu; FinnGen, Poul Jennum; Jennum, Poul; Nevsimalova, Sona; Kemlink, David; Iranzo, Alex; Overeem, Sebastiaan; Wierzbicka, Aleksandra; Geisler, Peter; Sonka, Karel; Honda, Makoto; Hoegl, Birgit; Stefani, Ambra; Coelho, Fernando Morgadinho; Mantovani, Vilma; Feketeova, Eva; Wadelius, Mia; Eriksson, Niclas; Smedje, Hans; Hallberg, Par; Hesla, Per Egil; Rye, David; Pelin, Zerrin; Ferini-Strambi, Luigi; Bassetti, Claudio L.; Mathis, Johannes; Khatami, Ramin; Aran, Adi; Nampoothiri, Sheela; Olsson, Tomas; Kockum, Ingrid; Partinen, Markku; Perola, Markus; Kornum, Birgitte R.; Rueger, Sina; Winkelmann, Juliane; Miyagawa, Taku; Toyoda, Hiromi; Khor, Seik-Soon; Shimada, Mihoko; Tokunaga, Katsushi; Rivas, Manuel; Pritchard, Jonathan K.; Risch, Neil; Kutalik, Zoltan; O'Hara, Ruth; Hallmayer, Joachim; Ye, Chun Jimmie und Mignot, Emmanuel J.
(2023):
Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy.
In: Nature Communications, Bd. 14, Nr. 1, 2709
[PDF, 4MB]
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]
Necpal, Jan; Winkelmann, Juliane; Zech, Michael und Jech, Robert
(2023):
A de novo GRIA3 variant with complex hyperkinetic movement disorder in a girl with developmental delay and self-limited epilepsy.
In: Parkinsonism & Related Disorders, Bd. 111, 105437
Seyedtaghia, Mohammad Reza; Soudyab, Mohammad; Shariati, Mohammad; Esfehani, Reza Jafarzadeh; Vafadar, Shabnam; Shalaei, Neda; Nouri, Vahid; Zech, Michael; Winkelmann, Juliane; Shoeibi, Ali und Sadr-Nabavi, Ariane
(2023):
Copy number analysis from whole-exome sequencing data revealed a novel homozygous deletion in PARK7 leads to severe early-onset Parkinson's disease.
In: Heliyon, Bd. 9, Nr. 4, e15393
[PDF, 3MB]
Poggio, Elena; Barazzuol, Lucia; Salmaso, Andrea; Milani, Celeste; Deligiannopoulou, Adamantia; Cazorla, Angeles Garcia; Jang, Se Song; Julia-Palacios, Natalia; Keren, Boris; Kopajtich, Robert; Lynch, Sally Ann; Mignot, Cyril; Moorwood, Catherine; Neuhofer, Christiane; Nigro, Vincenzo; Oostra, Anna; Prokisch, Holger; Saillour, Virginie; Schuermans, Nika; Torella, Annalaura; Verloo, Patrick; Yazbeck, Elise; Zollino, Marcella; Jech, Robert; Winkelmann, Juliane; Necpal, Jan; Cali, Tito; Brini, Marisa und Zech, Michael
(2023):
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
In: Genetics in Medicine, Bd. 25, Nr. 12, 100971
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
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]
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]
Indelicato, Elisabetta; Boesch, Sylvia; Baumgartner, Manuela; Plecko, Barbara; Winkelmann, Juliane und Zech, Michael
(2023):
Confirmation of a Causal Role for SHQ1 Variants in Early Infantile-Onset Recessive Dystonia.
In: Movement Disorders, Bd. 38, Nr. 2: S. 355-357
[PDF, 127kB]
Dzinovic, Ivana; Graf, Elisabeth; Brugger, Melanie; Berutti, Riccardo; Prihodova, Iva; Blaschek, Astrid; Winkelmann, Juliane; Jech, Robert; Vill, Katharina und Zech, Michael
(2023):
Challenges in Establishing the Diagnosis of PRRT2-Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch.
In: Movement Disorders Clinical Practice, Bd. 10, Nr. 7: S. 1159-1161
[PDF, 562kB]
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]
Tilch, Erik; Schormair, Barbara ORCID: https://orcid.org/0000-0003-0942-5243; Zhao, Chen; Högl, Birgit; Stefani, Ambra; Berger, Klaus; Trenkwalder, Claudia; Bachmann, Cornelius G.; Hornyak, Magdolna; Fietze, Ingo; Müller-Nurasyid, Martina ORCID: https://orcid.org/0000-0003-3793-5910; Peters, Annette; Herms, Stefan; Nöthen, Markus M.; Müller-Myhsok, Bertram; Oexle, Konrad und Winkelmann, Juliane
(2022):
ExomeChip-based rare variant association study in restless legs syndrome.
In: Sleep Medicine, Bd. 94: S. 26-30
[PDF, 598kB]
ORCID: https://orcid.org/0000-0003-0942-5243; Zhao, Chen; Högl, Birgit; Stefani, Ambra; Berger, Klaus; Trenkwalder, Claudia; Bachmann, Cornelius G.; Hornyak, Magdolna; Fietze, Ingo; Müller-Nurasyid, Martina ORCID: https://orcid.org/0000-0003-3793-5910; Peters, Annette; Herms, Stefan; Nöthen, Markus M.; Müller-Myhsok, Bertram; Oexle, Konrad und Winkelmann, Juliane
(2022):
ExomeChip-based rare variant association study in restless legs syndrome.
In: Sleep Medicine, Bd. 94: S. 26-30
[PDF, 598kB]
Hellbach, Fabian ORCID: https://orcid.org/0000-0001-8918-0017; Sinke, Lucy; Costeira, Ricardo; Baumeister, Sebastian-Edgar; Beekman, Marian; Louca, Panayiotis; Leeming, Emily R.; Mompeo, Olatz; Berry, Sarah; Wilson, Rory; Wawro, Nina; Freuer, Dennis; Hauner, Hans; Peters, Annette; Winkelmann, Juliane; Koenig, Wolfgang; Meisinger, Christa; Waldenberger, Melanie; Heijmans, Bastiaan T.; Slagboom, P. Eline; Bell, Jordana T. und Linseisen, Jakob
(2022):
Pooled analysis of epigenome-wide association studies of food consumption in KORA, TwinsUK and LLS.
In: European Journal of Nutrition, Bd. 62: S. 1357-1375
[PDF, 1MB]
ORCID: https://orcid.org/0000-0001-8918-0017; Sinke, Lucy; Costeira, Ricardo; Baumeister, Sebastian-Edgar; Beekman, Marian; Louca, Panayiotis; Leeming, Emily R.; Mompeo, Olatz; Berry, Sarah; Wilson, Rory; Wawro, Nina; Freuer, Dennis; Hauner, Hans; Peters, Annette; Winkelmann, Juliane; Koenig, Wolfgang; Meisinger, Christa; Waldenberger, Melanie; Heijmans, Bastiaan T.; Slagboom, P. Eline; Bell, Jordana T. und Linseisen, Jakob
(2022):
Pooled analysis of epigenome-wide association studies of food consumption in KORA, TwinsUK and LLS.
In: European Journal of Nutrition, Bd. 62: S. 1357-1375
[PDF, 1MB]
Falkai, Peter; Koutsouleris, Nikolaos; Bertsch, Katja; Bialas, Mirko; Binder, Elisabeth; Buehner, Markus; Buyx, Alena; Cai, Na; Cappello, Silvia; Ehring, Thomas; Gensichen, Jochen; Hamann, Johannes; Hasan, Alkomiet; Henningsen, Peter; Leucht, Stefan; Moehrmann, Karl Heinz; Nagelstutz, Elisabeth; Padberg, Frank; Peters, Annette; Pfaeffel, Lea; Reich-Erkelenz, Daniela; Riedl, Valentin; Rueckert, Daniel; Schmitt, Andrea; Schulte-Koerne, Gerd; Scheuring, Elfriede; Schulze, Thomas G.; Starzengruber, Rudolf; Stier, Susanne; Theis, Fabian J.; Winkelmann, Juliane; Wurst, Wolfgang und Priller, Josef
(2022):
Concept of the Munich/Augsburg Consortium Precision in Mental Health for the German Center of Mental Health.
In: Frontiers in Psychiatry, Bd. 13, 815718
Hellbach, Fabian; Baumeister, Sebastian-Edgar; Wilson, Rory; Wawro, Nina; Dahal, Chetana; Freuer, Dennis; Hauner, Hans; Peters, Annette; Winkelmann, Juliane; Schwettmann, Lars; Rathmann, Wolfgang; Kronenberg, Florian; Koenig, Wolfgang; Meisinger, Christa; Waldenberger, Melanie und Linseisen, Jakob
(2022):
Association between Usual Dietary Intake of Food Groups and DNA Methylation and Effect Modification by Metabotype in the KORA FF4 Cohort.
In: Life, Bd. 12, Nr. 7, 1064
Oeckl, Patrick; Anderl-Straub, Sarah; Danek, Adrian; Diehl-Schmid, Janine; Fassbender, Klaus; Fliessbach, Klaus; Halbgebauer, Steffen; Huppertz, Hans-Juergen; Jahn, Holger; Kassubek, Jan; Kornhuber, Johannes; Landwehrmeyer, Bernhard; Lauer, Martin; Prudlo, Johannes; Schneider, Anja; Schroeter, Matthias L.; Steinacker, Petra; Volk, Alexander E.; Wagner, Matias; Winkelmann, Juliane; Wiltfang, Jens; Ludolph, Albert C. und Otto, Markus
(2022):
Relationship of serum beta-synuclein with blood biomarkers and brain atrophy.
In: Alzheimer'S & Dementia, Bd. 19, Nr. 4: S. 1358-1371
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
Lam, Daniel D.; Williams, Rhiannan H.; Lujan, Ernesto; Tanabe, Koji; Huber, Georg; Saw, Nay Lui; Merl-Pham, Juliane; Salminen, Aaro; Lohse, David; Spendiff, Sally; Plastini, Melanie J.; Zech, Michael; Lochmueller, Hanns; Geerlof, Arie; Hauck, Stefanie M.; Shamloo, Mehrdad; Wemig, Marius und Winkelmann, Juliane
(2022):
Collagen VI regulates motor circuit plasticity and motor performance by cannabinoid modulation.
In: Journal of Neuroscience, Bd. 42, Nr. 8
[PDF, 7MB]
Schormair, Barbara; Zhao, Chen; Salminen, Aaro; Oexle, Konrad und Winkelmann, Juliane
(2022):
Reassessment of candidate gene studies for idiopathic restless legs syndrome in a large genome-wide association study dataset of European ancestry.
In: Sleep, Bd. 45, Nr. 8
[PDF, 5MB]
Lam, Daniel D.; Nikolic, Ana Antic; Zhao, Chen; Mirza-Schreiber, Nazanin; Krezel, Wojciech; Oexle, Konrad und Winkelmann, Juliane
(2022):
Intronic elements associated with insomnia and restless legs syndrome exhibit cell-type-specific epigenetic features contributing to MEIS1 regulation.
In: Human Molecular Genetics, Bd. 31, Nr. 11: S. 1733-1746
[PDF, 1MB]
Dzinovic, Ivana; Winkelmann, Juliane und Zech, Michael
(2022):
Genetic intersection between dystonia and neurodevelopmental disorders: Insights from genomic sequencing.
In: Parkinsonism & Related Disorders, Bd. 102: S. 131-140
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
Garavaglia, Barbara; Vallian, Sadeq; Romito, Luigi M.; Straccia, Giulia; Capecci, Marianna; Invernizzi, Federica; Andrenelli, Elisa; Kazemi, Arezu; Boesch, Sylvia; Kopajtich, Robert; Olfati, Nahid; Shariati, Mohammad; Shoeibi, Ali; Sadr-Nabavi, Ariane; Prokisch, Holger; Winkelmann, Juliane und Zech, Michael
(2022):
AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism.
In: Parkinsonism & Related Disorders, Bd. 97: S. 52-56
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
Witzel, Simon; Wagner, Matias; Zhao, Chen; Kandler, Katharina; Graf, Elisabeth; Berutti, Riccardo; Oexle, Konrad; Brenner, David; Winkelmann, Juliane und Ludolph, Albert C.
(2022):
Fast versus slow disease progression in amyotrophic lateral sclerosis-clinical and genetic factors at the edges of the survival spectrum.
In: Neurobiology of Aging, Bd. 119: S. 117-126
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
Soudyab, Mohammad; Shariati, Mohammad; Esfehani, Reza Jafarzadeh; Shalaei, Neda; Vafadar, Shabnam; Nouri, Vahid; Zech, Michael; Winkelmann, Juliane; Shoeibi, Ali und Sadr-Nabavi, Ariane
(2022):
Whole-Exome Sequencing Study of Consanguineous Parkinson's Disease Families and Related Phenotypes: Report of Twelve Novel Variants.
In: Journal of Molecular Neuroscience, Bd. 72, Nr. 12: S. 2486-2496
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
Neilson, Derek E.; Zech, Michael; Hufnagel, Robert B.; Slone, Jesse; Wang, Xinjian; Homan, Shelli; Gutzwiller, Lisa M.; Leslie, Elizabeth J.; Leslie, Nancy D.; Xiao, Jianfeng; Hedera, Peter; LeDoux, Mark S.; Gebelein, Brian; Wilbert, Friederike; Eckenweiler, Matthias; Winkelmann, Juliane; Gilbert, Donald L. und Huang, Taosheng
(2022):
A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.
In: Movement Disorders, Bd. 37, Nr. 2: S. 375-383
[PDF, 427kB]
Zech, Michael; Kumar, Kishore R.; Reining, Sophie; Reunert, Janine; Tchan, Michel; Riley, Lisa G.; Drew, Alexander P.; Adam, Robert J.; Berutti, Riccardo; Biskup, Saskia; Derive, Nicolas; Bakhtiari, Somayeh; Jin, Sheng Chih; Kruer, Michael C.; Bardakjian, Tanya; Gonzalez-Alegre, Pedro; Sarmiento, Ignacio J. Keller; Mencacci, Niccolo E.; Lubbe, Steven J.; Kurian, Manju A.; Clot, Fabienne; Meneret, Aurelie; Agathe, Jean-Madeleine de Sainte; Fung, Victor S. C.; Vidailhet, Marie; Baumann, Matthias; Marquardt, Thorsten; Winkelmann, Juliane und Boesch, Sylvia
(2022):
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
In: Movement Disorders, Bd. 37, Nr. 1: S. 137-147
[PDF, 689kB]
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; 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]
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]
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]
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
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]
Neuser, Sonja; Brechmann, Barbara; Heimer, Gali; Broesse, Ines; Schubert, Susanna; O'Grady, Lauren; Zech, Michael; Srivastava, Siddharth; Sweetser, David A.; Dincer, Yasemin; Mall, Volker; Winkelmann, Juliane; Behrends, Christian; Darras, Basil T.; Graham, Robert J.; Jayakar, Parul; Byrne, Barry; Bar-Aluma, Bat El; Haberman, Yael; Szeinberg, Amir; Aldhalaan, Hesham M.; Hashem, Mais; Al Tenaiji, Amal; Ismayl, Omar; Al Nuaimi, Asma E.; Maher, Karima; Ibrahim, Shahnaz; Khan, Fatima; Houlden, Henry; Ramakumaran, Vijayalakshmi S.; Pagnamenta, Alistair T.; Posey, Jennifer E.; Lupski, James R.; Tan, Wen-Hann; ElGhazali, Gehad; Herman, Isabella; Munoz, Tatiana; Repetto, Gabriela M.; Seitz, Angelika; Krumbiegel, Mandy; Poli, Maria Cecilia; Kini, Usha; Efthymiou, Stephanie; Meiler, Jens; Maroofian, Reza; Alkuraya, Fowzan S.; Abou Jamra, Rami; Popp, Bernt; Ben-Zeev, Bruria und Ebrahimi-Fakhari, Darius
(2021):
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
In: Human Mutation, Bd. 42, Nr. 6: S. 762-776
[PDF, 3MB]
Schlosser, Pascal; Tin, Adrienne; Matias-Garcia, Pamela R.; Thio, Chris H. L.; Joehanes, Roby; Liu, Hongbo; Weihs, Antoine; Yu, Zhi; Hoppmann, Anselm; Grundner-Culemann, Franziska; Min, Josine L.; Adeyemo, Adebowale A.; Agyemang, Charles; Arnlov, Johan; Aziz, Nasir A.; Baccarelli, Andrea; Bochud, Murielle; Brenner, Hermann; Breteler, Monique M. B.; Carmeli, Cristian; Chaker, Layal; Chambers, John C.; Cole, Shelley A.; Coresh, Josef; Corre, Tanguy; Correa, Adolfo; Cox, Simon R.; Klein, Niek de; Delgado, Graciela E.; Domingo-Relloso, Arce; Eckardt, Kai-Uwe; Ekici, Arif B.; Endlich, Karlhans; Evans, Kathryn L.; Floyd, James S.; Fornage, Myriam; Franke, Lude; Fraszczyk, Eliza; Gao, Xu; Gao, Xin; Ghanbari, Mohsen; Ghasemi, Sahar; Gieger, Christian; Greenland, Philip; Grove, Megan L.; Harris, Sarah E.; Hemani, Gibran; Henneman, Peter; Herder, Christian; Horvath, Steve; Hou, Lifang; Hurme, Mikko A.; Hwang, Shih-Jen; Jarvelin, Marjo-Riitta; Kardia, Sharon L. R.; Kasela, Silva; Kleber, Marcus E.; Koenig, Wolfgang; Kooner, Jaspal S.; Kramer, Holly; Kronenberg, Florian; Kuhnel, Brigitte; Lehtimaki, Terho; Lind, Lars; Liu, Dan; Liu, Yongmei; Lloyd-Jones, Donald M.; Lohman, Kurt; Lorkowski, Stefan; Lu, Ake T.; Marioni, Riccardo E.; Marz, Winfried; McCartney, Daniel L.; Meeks, Karlijn A. C.; Milani, Lili; Mishra, Pashupati P.; Nauck, Matthias; Navas-Acien, Ana; Nowak, Christoph; Peters, Annette; Prokisch, Holger; Psaty, Bruce M.; Raitakari, Olli T.; Ratliff, Scott M.; Reiner, Alex P.; Rosas, Sylvia E.; Schottker, Ben; Schwartz, Joel; Sedaghat, Sanaz; Smith, Jennifer A.; Sotoodehnia, Nona; Stocker, Hannah R.; Stringhini, Silvia; Sundstrom, Johan; Swenson, Brenton R.; Tellez-Plaza, Maria; Meurs, Joyce B. J. van; Vliet-Ostaptchouk, Jana V. van; Venema, Andrea; Verweij, Niek; Walker, Rosie M.; Wielscher, Matthias; Winkelmann, Juliane; Wolffenbuttel, Bruce H. R.; Zhao, Wei; Zheng, Yinan; Loh, Marie; Snieder, Harold; Levy, Daniel; Waldenberger, Melanie; Susztak, Katalin; Kottgen, Anna und Teumer, Alexander
(2021):
Meta-analyses identify DNA methylation associated with kidney function and damage.
In: Nature Communications, Bd. 12, Nr. 1, 7174
[PDF, 3MB]
Tin, Adrienne; Schlosser, Pascal; Matias-Garcia, Pamela R.; Thio, Chris H. L.; Joehanes, Roby; Liu, Hongbo; Yu, Zhi; Weihs, Antoine; Hoppmann, Anselm; Grundner-Culemann, Franziska; Min, Josine L.; Kuhns, Victoria L. Halperin; Adeyemo, Adebowale A.; Agyemang, Charles; Ärnlöv, Johan; Aziz, Nasir A.; Baccarelli, Andrea; Bochud, Murielle; Brenner, Hermann; Bressler, Jan; Breteler, Monique M. B.; Carmeli, Cristian; Chaker, Layal; Coresh, Josef; Corre, Tanguy; Correa, Adolfo; Cox, Simon R.; Delgado, Graciela E.; Eckardt, Kai-Uwe; Ekici, Arif B.; Endlich, Karlhans; Floyd, James S.; Fraszczyk, Eliza; Gao, Xu; Gao, Xin; Gelber, Allan C.; Ghanbari, Mohsen; Ghasemi, Sahar; Gieger, Christian; Greenland, Philip; Grove, Megan L.; Harris, Sarah E.; Hemani, Gibran; Henneman, Peter; Herder, Christian; Horvath, Steve; Hou, Lifang; Hurme, Mikko A.; Hwang, Shih-Jen; Kardia, Sharon L. R.; Kasela, Silva; Kleber, Marcus E.; Koenig, Wolfgang; Kooner, Jaspal S.; Kronenberg, Florian; Kuehnel, Brigitte; Ladd-Acosta, Christine; Lehtimaki, Terho; Lind, Lars; Liu, Dan; Lloyd-Jones, Donald M.; Lorkowski, Stefan; Lu, Ake T.; Marioni, Riccardo E.; Marz, Winfried; McCartney, Daniel L.; Meeks, Karlijn A. C.; Milani, Lili; Mishra, Pashupati P.; Nauck, Matthias; Nowak, Christoph; Peters, Annette; Prokisch, Holger; Psaty, Bruce M.; Raitakari, Olli T.; Ratliff, Scott M.; Reiner, Alex P.; Schottker, Ben; Schwartz, Joel; Sedaghat, Sanaz; Smith, Jennifer A.; Sotoodehnia, Nona; Stocker, Hannah R.; Stringhini, Silvia; Sundstrom, Johan; Swenson, Brenton R.; Meurs, Joyce B. J. van; Vliet-Ostaptchouk, Jana V. van; Venema, Andrea; Volker, Uwe; Winkelmann, Juliane; Wolffenbuttel, Bruce H. R.; Zhao, Wei; Zheng, Yinan; Loh, Marie; Snieder, Harold; Waldenberger, Melanie; Levy, Daniel; Akilesh, Shreeram; Woodward, Owen M.; Susztak, Katalin; Teumer, Alexander und Kottgen, Anna
(2021):
Epigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus.
In: Nature Communications, Bd. 12, Nr. 1, 7173
[PDF, 3MB]
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]
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]
Chen, Yuqing; Kassam, Irfahan; Lau, Suk Hiang; Kooner, Jaspal S.; Wilson, Rory; Peters, Annette; Winkelmann, Juliane; Chambers, John C.; Chow, Vincent T.; Khor, Chiea Chuen; van Dam, Rob M.; Teo, Yik-Ying; Loh, Marie und Sim, Xueling
(2021):
Impact of BMI and waist circumference on epigenome-wide DNA methylation and identification of epigenetic biomarkers in blood: an EWAS in multi-ethnic Asian individuals.
In: Clinical Epigenetics, Bd. 13, Nr. 1, 195
[PDF, 1MB]
Matias-Garcia, Pamela R.; Ward-Caviness, Cavin K.; Raffield, Laura M.; Gao, Xu; Zhang, Yan; Wilson, Rory; Gao, Xin; Nano, Jana; Bostom, Andrew; Colicino, Elena; Correa, Adolfo; Coull, Brent; Eaton, Charles; Hou, Lifang; Just, Allan C.; Kunze, Sonja; Lange, Leslie; Lange, Ethan; Lin, Xihong; Liu, Simin; Nwanaji-Enwerem, Jamaji C.; Reiner, Alex; Shen, Jincheng; Schottker, Ben; Vokonas, Pantel; Zheng, Yinan; Young, Bessie; Schwartz, Joel; Horvath, Steve; Lu, Ake; Whitsel, Eric A.; Koenig, Wolfgang; Adamski, Jerzy; Winkelmann, Juliane; Brenner, Hermann; Baccarelli, Andrea A.; Gieger, Christian; Peters, Annette; Franceschini, Nora und Waldenberger, Melanie
(2021):
DNAm-based signatures of accelerated aging and mortality in blood are associated with low renal function.
In: Clinical Epigenetics, Bd. 13, Nr. 1, 121
[PDF, 1MB]
Cathiard, Lucile; Fraulob, Valerie; Lam, Daniel D.; Torres, Miguel; Winkelmann, Juliane und Krezel, Wojciech
(2021):
Investigation of dopaminergic signalling in Meis homeobox 1 (Meis1) deficient mice as an animal model of restless legs syndrome.
In: Journal of Sleep Research, Bd. 30, Nr. 5, e13311
Zech, Michael; Seibt, Annette; Zumbaum, Barbara; Klee, Dirk; Meitinger, Thomas; Winkelmann, Juliane; Mayatepek, Ertan; Wagner, Matias und Distelmaier, Felix
(2021):
MATR3 haploinsufficiency and early-onset neurodegeneration.
In: Brain, Bd. 144, e72
[PDF, 322kB]
Monfrini, Edoardo; Zech, Michael; Steel, Dora; Kurian, Manju A.; Winkelmann, Juliane und Di Fonzo, Alessio
(2021):
HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia.
In: Brain, Bd. 144: S. 2610-2615
[PDF, 494kB]
Cousin, Margot A.; Creighton, Blake A.; Breau, Keith A.; Spillmann, Rebecca C.; Torti, Erin; Dontu, Sruthi; Tripathi, Swarnendu; Ajit, Deepa; Edwards, Reginald J.; Afriyie, Simone; Bay, Julia C.; Harper, Kathryn M.; Beltran, Alvaro A.; Munoz, Lorena J.; Falcon Rodriguez, Liset; Stankewich, Michael C.; Person, Richard E.; Si, Yue; Normand, Elizabeth A.; Blevins, Amy; May, Alison S.; Bier, Louise; Aggarwal, Vimla; Mancini, Grazia M. S.; van Slegtenhorst, Marjon A.; Cremer, Kirsten; Becker, Jessica; Engels, Hartmut; Aretz, Stefan; MacKenzie, Jennifer J.; Brilstra, Eva; van Gassen, Koen L. I.; van Jaarsveld, Richard H.; Oegema, Renske; Parsons, Gretchen M.; Mark, Paul; Helbig, Ingo; McKeown, Sarah E.; Stratton, Robert; Cogne, Benjamin; Isidor, Bertrand; Cacheiro, Pilar; Smedley, Damian; Firth, Helen V.; Bierhals, Tatjana; Kloth, Katja; Weiss, Deike; Fairley, Cecilia; Shieh, Joseph T.; Kritzer, Amy; Jayakar, Parul; Kurtz-Nelson, Evangeline; Bernier, Raphael A.; Wang, Tianyun; Eichler, Evan E.; van de Laar, Ingrid M. B. H.; McConkie-Rosell, Allyn; McDonald, Marie T.; Kemppainen, Jennifer; Lanpher, Brendan C.; Schultz-Rogers, Laura E.; Gunderson, Lauren B.; Pichurin, Pavel N.; Yoon, Grace; Zech, Michael; Jech, Robert; Winkelmann, Juliane; Beltran, Adriana S.; Zimmermann, Michael T.; Temple, Brenda; Moy, Sheryl S.; Klee, Eric W.; Tan, Queenie K. -G. und Lorenzo, Damaris N.
(2021):
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
In: Nature Genetics, Bd. 53, Nr. 7:
1006-+
[PDF, 9MB]
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]
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
Necpal, Jan; Zech, Michael; Winkelmann, Juliane und Jech, Robert
(2021):
Trisomy X syndrome with dystonia and a pathogenic SATB1 variant.
In: Neurological Sciences, Bd. 42, Nr. 9: S. 3883-3884
Dzinovic, Ivana; Serranova, Tereza; Prouteau, Clement; Colin, Estelle; Ziegler, Alban; Winkelmann, Juliane; Jech, Robert und Zech, Michael
(2021):
Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant.
In: Neurogenetics, Bd. 22, Nr. 2: S. 137-141
Winter, Benedikt; Kraemer, Johannes; Meinhardt, Tamara; Berner, Daniel; Alt, Kerstin; Wenzel, Maren; Winkelmann, Juliane und Zech, Michael
(2021):
NR4A2 and Dystonia with Dopa Responsiveness.
In: Movement Disorders, Bd. 36, Nr. 9: S. 2203-2204
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
Zech, Michael; Bardakjian, Tanya M.; Stoklosa, Malgorzata; Ploski, Rafal; Jech, Robert; Gonzalez-Alegre, Pedro und Winkelmann, Juliane
(2021):
A Neurodevelopmental Disorder With Dystonia and Chorea Resulting From Clustering CAMK4 Variants.
In: Movement Disorders, Bd. 36, Nr. 2: S. 520-521
Musacchio, Thomas; Zech, Michael; Reich, Martin M.; Winkelmann, Juliane und Volkmann, Jens
(2021):
A Recurrent EIF2AK2 Missense Variant Causes Autosomal-Dominant Isolated Dystonia.
In: Annals of Neurology, Bd. 89, Nr. 6: S. 1257-1258
[PDF, 189kB]
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]
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]
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
Bryant, Laura; Li, Dong; Cox, Samuel G.; Marchione, Dylan; Joiner, Evan F.; Wilson, Khadija; Janssen, Kevin; Lee, Pearl; March, Michael E.; Nair, Divya; Sherr, Elliott; Fregeau, Brieana; Wierenga, Klaas J.; Wadley, Alexandrea; Mancini, Grazia M. S.; Powell-Hamilton, Nina; Kamp, Jiddeke van de; Grebe, Theresa; Dean, John; Ross, Alison; Crawford, Heather P.; Powis, Zoe; Cho, Megan T.; Willing, Marcia C.; Manwaring, Linda; Schot, Rachel; Nava, Caroline; Afenjar, Alexandra; Lessel, Davor; Wagner, Matias; Klopstock, Thomas; Winkelmann, Juliane; Catarino, Claudia B.; Retterer, Kyle; Schuette, Jane L.; Innis, Jeffrey W.; Pizzino, Amy; Luttgen, Sabine; Denecke, Jonas; Strom, Tim M.; Monaghan, Kristin G.; Yuan, Zuo-Fei; Dubbs, Holly; Bend, Renee; Lee, Jennifer A.; Lyons, Michael J.; Hoefele, Julia; Gunthner, Roman; Reutter, Heiko; Keren, Boris; Radtke, Kelly; Sherbini, Omar; Mrokse, Cameron; Helbig, Katherine L.; Odent, Sylvie; Cogne, Benjamin; Mercier, Sandra; Bezieau, Stephane; Besnard, Thomas; Kury, Sebastien; Redon, Richard; Reinson, Karit; Wojcik, Monica H.; Ounap, Katrin; Ilves, Pilvi; Innes, A. Micheil; Kernohan, Kristin D.; Costain, Gregory; Meyn, M. Stephen; Chitayat, David; Zackai, Elaine; Lehman, Anna; Kitson, Hilary; Martin, Martin G.; Martinez-Agosto, Julian A.; Nelson, Stan F.; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Sinsheimer, Janet S.; Vilain, Eric; Wan, Jijun; Yoon, Amanda J.; Zheng, Allison; Brimble, Elise; Ferrero, Giovanni Battista; Radio, Francesca Clementina; Carli, Diana; Barresi, Sabina; Brusco, Alfredo; Tartaglia, Marco; Thomas, Jennifer Muncy; Umana, Luis; Weiss, Marjan M.; Gotway, Garrett; Stuurman, K. E.; Thompson, Michelle L.; McWalter, Kirsty; Stumpel, Constance T. R. M.; Stevens, Servi J. C.; Stegmann, Alexander P. A.; Tveten, Kristian; Vollo, Arve; Prescott, Trine; Fagerberg, Christina; Laulund, Lone Walentin; Larsen, Martin J.; Byler, Melissa; Lebel, Robert Roger; Hurst, Anna C.; Dean, Joy; Vergano, Samantha A. Schrier; Norman, Jennifer; Mercimek-Andrews, Saadet; Neira, Juanita; Allen, Margot van; Longo, Nicola; Sellars, Elizabeth; Louie, Raymond J.; Cathey, Sara S.; Brokamp, Elly; Heron, Delphine; Snyder, Molly; Vanderver, Adeline; Simon, Celeste; de la Cruz, Xavier; Padilla, Natalia; Crump, J. Gage; Chung, Wendy; Garcia, Benjamin; Hakonarson, Hakon H. und Bhoj, Elizabeth J.
(2020):
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
In: Science Advances, Bd. 6, Nr. 49, eabc9207
[PDF, 703kB]
Licata, Abigail; Grimmer, Timo; Winkelmann, Juliane; Wagner, Matias; Goldhardt, Oliver; Riedl, Lina; Rossmeier, Carola; Yakushev, Igor und Diehl-Schmid, Janine
(2020):
Variability of clinical syndromes and cerebral glucose metabolism in symptomatic frontotemporal lobar degeneration associated with progranulin mutations.
In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Bd. 21: S. 389-395
Sailani, M. Reza; Jahanbani, Fereshteh; Abbott, Charles W.; Lee, Hayan; Zia, Amin; Rego, Shannon; Winkelmann, Juliane; Hopfner, Franziska; Khan, Tahir N.; Katsanis, Nicholas; Mueller, Stefanie H.; Berg, Daniela; Lyman, Katherine M.; Mychajliw, Christian; Deuschl, Guenther; Bernstein, Jonathan A.; Kuhlenbaeumer, Gregor und Snyder, Michael P.
(2020):
Candidate variants inTUBare associated with familial tremor.
In: PLOS Genetics 16(9), e1009010 [PDF, 2MB]
In: PLOS Genetics 16(9), e1009010 [PDF, 2MB]
Singh, Sakshi; Gupta, Aditi; Zech, Michael; Sigafoos, Ashley N.; Clark, Karl J.; Dincer, Yasemin; Wagner, Matias; Humberson, Jennifer B.; Green, Sarah; van Gassen, Koen; Brandt, Tracy; Schnur, Rhonda E.; Millan, Francisca; Si, Yue; Mall, Volker; Winkelmann, Juliane; Gavrilova, Ralitza H.; Klee, Eric W.; Engleman, Kendra; Safina, Nicole P.; Slaugh, Rachel; Bryant, Emily M.; Tan, Wen-Hann; Granadillo, Jorge; Misra, Sunita N.; Schaefer, G. Bradley; Towner, Shelley; Brilstra, Eva H. und Koeleman, Bobby P. C.
(2020):
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.
In: Genetics in Medicine, Bd. 22, Nr. 8: S. 1413-1417
[PDF, 479kB]
Tilch, Erik; Schormair, Barbara; Zhao, Chen; Salminen, Aaro; Nikolic, Ana Antic; Holzknecht, Evi; Hoegl, Birgit; Poewe, Werner; Bachmann, Cornelius G.; Paulus, Walter; Trenkwalder, Claudia; Oertel, Wolfgang H.; Hornyak, Magdolna; Fietze, Ingo; Berger, Klaus; Lichtner, Peter; Gieger, Christian; Peters, Annette; Mueller-Myhsok, Bertram; Hoischen, Alexander; Winkelmann, Juliane und Oexle, Konrad
(2020):
Identification of Restless Legs Syndrome Genes by Mutational Load Analysis.
In: Annals of Neurology, Bd. 87, Nr. 2: S. 184-193
[PDF, 285kB]
Hopfner, Franziska; Mueller, Stefanie H.; Szymczak, Silke; Junge, Olaf; Tittmann, Lukas; May, Sandra; Lohmann, Katja; Grallert, Harald; Lieb, Wolfgang; Strauch, Konstantin; Müller-Nurasyi, Martina; Berger, Klaus; Schormair, Barbara; Winkelmann, Juliane; Mollenhauer, Brit; Trenkwalder, Claudia; Maetzler, Walter; Berg, Daniela; Kasten, Meike; Klein, Christine; Höglinger, Günter U.; Gasser, Thomas; Deuschl, Günther; Franke, André; Krawczak, Michael; Dempfle, Astrid und Kuhlenbäumer, Gregor
(2020):
Private variants in PRKN are associated with late-onset Parkinson's disease.
In: Parkinsonism & Related Disorders, Bd. 75: S. 24-26
Necpál, Ján; Zech, Michael; Valachová, Alica; Sedláček, Zdeněk; Bendová, Šárka; Hančárová, Miroslava; Okáľová, Katarína; Winkelmann, Juliane und Jech, Robert
(2020):
Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier.
In: Parkinsonism & Related Disorders, Bd. 77: S. 87-88
Salminen, Aaro V.; Schandra, Nathalie; Schormair, Barbara; Oexle, Konrad und Winkelmann, Juliane
(2020):
Therapeutic effectiveness of thalidomide in a patient with treatment-resistant restless legs syndrome.
In: Journal of Clinical Sleep Medicine, Bd. 16, Nr. 10: S. 1815-1817
Götzl, Julia K.; Brendel, Matthias; Werner, Georg; Parhizkar, Samira; Monasor, Laura Sebastian; Kleinberger, Gernot; Colombo, Alessio‐Vittorio; Deussing, Maximilian; Wagner, Matias; Winkelmann, Juliane; Diehl‐Schmid, Janine; Levin, Johannes; Fellerer, Katrin; Reifschneider, Anika; Bultmann, Sebastian; Bartenstein, Peter; Rominger, Axel; Tahirovic, Sabina; Smith, Scott T.; Madore, Charlotte; Butovsky, Oleg; Capell, Anja und Haass, Christian
(2019):
Opposite microglial activation stages upon loss of PGRN or TREM2 result in reduced cerebral glucose metabolism.
In: Embo Molecular Medicine, Bd. 11, Nr. 6
[PDF, 1MB]
Wagner, Matias; Osborn, Daniel P. S.; Gehweiler, Ina; Nagel, Maike; Ulmer, Ulrike; Bakhtiari, Somayeh; Amouri, Rim; Boostani, Reza; Hentati, Faycal; Hockley, Maryam M.; Hoelbling, Benedikt; Schwarzmayr, Thomas; Karimiani, Ehsan Ghayoor; Kernstock, Christoph; Maroofian, Reza; Müller-Felber, Wolfgang; Ozkan, Ege; Padilla-Lopez, Sergio; Reich, Selina; Reichbauer, Jennifer; Darvish, Hossein; Shahmohammadibeni, Neda; Tafakhori, Abbas; Vill, Katharina; Zuchner, Stephan; Kruer, Michael C.; Winkelmann, Juliane; Jamshidi, Yalda und Schuele, Rebecca
(2019):
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.
In: Nature Communications, Bd. 10, 4790
[PDF, 2MB]
Lane, Jacqueline M.; Jones, Samuel E.; Dashti, Hassan S.; Wood, Andrew R.; Aragam, Krishna G.; Hees, Vincent T. van; Strand, Linn B.; Winsvold, Bendik S.; Wang, Heming; Bowden, Jack; Song, Yanwei; Patel, Krunal; Anderson, Simon G.; Beaumont, Robin N.; Bechtold, David A.; Cade, Brian E.; Haas, Mary; Kathiresan, Sekar; Little, Max A.; Luik, Annemarie I; Loudon, Andrew S.; Purcell, Shaun; Richmond, Rebecca C.; Scheer, Frank A. J. L.; Schormair, Barbara; Tyrrell, Jessica; Winkelman, John W.; Winkelmann, Juliane; Hveem, Kristian; Zhao, Chen; Nielsen, Jonas B.; Willer, Cristen J.; Redline, Susan; Spiegelhalder, Kai; Kyle, Simon D.; Ray, David W.; Zwart, John-Anker; Brumpton, Ben; Frayling, Timothy M.; Lawlor, Deborah A.; Rutter, Martin K.; Weedon, Michael N.; Saxena, Richa; Martinsen, Amy E.; Skogholt, Anne H.; Sivertsen, Borge; Bragantini, Daniela; Kallestad, Havard; Janszky, Imre; Guzey, Ismail C.; Nilsen, Kristian B.; Fritsche, Lars; Pedersen, Linda M.; Gabrielsen, Maiken E.; Johnsen, Marianne B.; Lie, Marie U.; Engstrom, Morten; Sand, Trond und Zhou, Wei
(2019):
Biological and clinical insights from genetics of insomnia symptoms.
In: Nature Genetics, Bd. 51, Nr. 3:
387-+
[PDF, 538kB]
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]
Zech, Michael; Lam, Daniel D. und Winkelmann, Juliane ORCID: https://orcid.org/0000-0002-3074-599X
(2019):
Update on KMT2B-Related Dystonia.
In: Current Neurology and Neuroscience Reports, Bd. 19, Nr. 11, 92
[PDF, 240kB]
ORCID: https://orcid.org/0000-0002-3074-599X
(2019):
Update on KMT2B-Related Dystonia.
In: Current Neurology and Neuroscience Reports, Bd. 19, Nr. 11, 92
[PDF, 240kB]
Rietschel, Marcella und Winkelmann, Juliane
(2019):
Genetics in Neurology and Psychiatry.
In: Nervenarzt, Bd. 90, Nr. 2: S. 97-98
Salminen, Aaro V.; Allen, Richard P.; Högl, Birgit; Inoue, Yuichi; Oertel, Wolfgang; Winkelman, John W.; Trenkwalder, Claudia; Sampaio, Cristina und Winkelmann, Juliane
(2019):
Reply to: A note on rotigotine for restless legs syndrome after renal transplantation.
In: Movement Disorders, Bd. 34, Nr. 1: S. 152-153
Salminen, Aaro V.; Allen, Richard P.; Högl, Birgit; Inoue, Yuichi; Oertel, Wolfgang; Winkelman, John W.; Trenkwalder, Claudia; Sampaio, Cristina und Winkelmann, Juliane
(2019):
Reply to: Safety of dopamine agonists for treating restless legs syndrome.
In: Movement Disorders, Bd. 34, Nr. 1: S. 150-151
Zech, Michael; Wagner, Matias; Schormair, Barbara; Oexle, Konrad und Winkelmann, Juliane
(2019):
Exomdiagnostik in der Neurologie.
In: Nervenarzt, Bd. 90, Nr. 2: S. 131-137
[PDF, 401kB]
Pottier, Cyril; Zhou, Xiaolai; Perkerson, Ralph B. III; Baker, Matt; Jenkins, Gregory D.; Serie, Daniel J.; Ghidoni, Roberta; Benussi, Luisa; Binetti, Giuliano; de Munain, Adolfo Lopez; Zulaica, Miren; Moreno, Fermin; Le Ber, Isabelle; Pasquier, Florence; Hannequin, Didier; Sanchez-Valle, Raquel; Antonell, Anna; Llado, Albert; Parsons, Tammee M.; Finch, Nicole A.; Finger, Elizabeth C.; Lippa, Carol F.; Huey, Edward D.; Neumann, Manuela; Heutink, Peter; Synofzik, Matthis; Wilke, Carlo; Rissman, Robert A.; Slawek, Jaroslaw; Sitek, Emilia; Johannsen, Peter; Nielsen, Jorgen E.; Ren, Yingxue; Blitterswijk, Marka van; DeJesus-Hernandez, Mariely; Christopher, Elizabeth; Murray, Melissa E.; Bieniek, Kevin F.; Evers, Bret M.; Ferrari, Camilla; Rollinson, Sara; Richardson, Anna; Scarpini, Elio; Fumagalli, Giorgio G.; Padovani, Alessandro; Hardy, John; Momeni, Parastoo; Ferrari, Raffaele; Frangipane, Francesca; Maletta, Raffaele; Anfossi, Maria; Gallo, Maura; Petrucelli, Leonard; Suh, EunRan; Lopez, Oscar L.; Wong, Tsz H.; van Rooij, Jeroen G. J.; Seelaar, Harro; Mead, Simon; Caselli, Richard J.; Reiman, Eric M.; Sabbagh, Marwan Noel; Kjolby, Mads; Nykjaer, Anders; Karydas, Anna M.; Boxer, Adam L.; Grinberg, Lea T.; Grafman, Jordan; Spina, Salvatore; Oblak, Adrian; Mesulam, M-Marsel; Weintraub, Sandra; Geula, Changiz; Hodges, John R.; Piguet, Olivier; Brooks, William S.; Irwin, David J.; Trojanowski, John Q.; Lee, Edward B.; Josephs, Keith A.; Parisi, Joseph E.; Ertekin-Taner, Nilufer; Knopman, David S.; Nacmias, Benedetta; Piaceri, Irene; Bagnoli, Silvia; Sorbi, Sandro; Gearing, Marla; Glass, Jonathan; Beach, Thomas G.; Black, Sandra E.; Masellis, Mario; Rogaeva, Ekaterina; Vonsattel, Jean-Paul; Honig, Lawrence S.; Kofler, Julia; Bruni, Amalia C.; Snowden, Julie; Mann, David; Pickering-Brown, Stuart; Diehl-Schmid, Janine; Winkelmann, Juliane; Galimberti, Daniela; Graff, Caroline; Oijerstedt, Linn; Troakes, Claire; Al-Sarraj, Safa; Cruchaga, Carlos; Cairns, Nigel J.; Rohrer, Jonathan D.; Halliday, Glenda M.; Kwok, John B.; Swieten, John C. van; White, Charles L. III; Ghetti, Bernardino; Murell, Jill R.; Mackenzie, Ian R. A.; Hsiung, Ging-Yuek R.; Borroni, Barbara; Rossi, Giacomina; Tagliavini, Fabrizio; Wszolek, Zbigniew K.; Petersen, Ronald C.; Bigio, Eileen H.; Grossman, Murray; Deerlin, Vivianna M. van; Seeley, William W.; Miller, Bruce L.; Graff-Radford, Neill R.; Boeve, Bradley F.; Dickson, Dennis W.; Biernacka, Joanna M. und Rademakers, Rosa
(2018):
Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.
In: Lancet Neurology, Bd. 17, Nr. 6: S. 548-558
Winkelmann, Juliane; Allen, Richard P.; Högl, Birgit; Inoue, Yuichi; Oertel, Wolfgang; Salminen, Aaro V.; Winkelman, John W.; Trenkwalder, Claudia und Sampaio, Cristina
(2018):
Treatment of Restless Legs Syndrome: Evidence-Based Review and Implications for Clinical Practice (Revised 2017).
In: Movement Disorders, Bd. 33, Nr. 7: S. 1077-1091
Salminen, Aaro V. und Winkelmann, Juliane
(2018):
Restless Legs Syndrome and Other Movement Disorders of SleepTreatment Update.
In: Current Treatment Options in Neurology, Bd. 20, Nr. 12, 55
Trenkwalder, Claudia; Allen, Richard; Högl, Birgit; Clemens, Stefan; Patton, Stephanie; Schormair, Barbara und Winkelmann, Juliane
(2018):
Comorbidities, treatment, and pathophysiology in restless legs syndrome.
In: Lancet Neurology, Bd. 17, Nr. 11: S. 994-1005
Salminen, Aaro V.; Schormair, Barbara; Flachskamm, Cornelia; Torres, Miguel; Müller-Myhsok, Bertram; Kimura, Mayumi und Winkelmann, Juliane
(2018):
Sleep disturbance by pramipexole is modified by Meis1 in mice.
In: Journal of Sleep Research, Bd. 27, Nr. 4
Momozawa, Yukihide; Dmitrieva, Julia; Theatre, Emilie; Deffontaine, Valerie; Brand, Stephan; Glas, Jürgen und Winkelmann, Juliane
(2018):
IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes.
In: Nature Communications, Bd. 9, 2427
[PDF, 1MB]
Schludi, Martin H.; Becker, Lore; Garrett, Lillian; Gendron, Tania F.; Zhou, Qihui; Schreiber, Franziska; Popper, Bastian; Dimou, Leda; Strom, Tim M.; Winkelmann, Juliane; Thaden, Anne von; Rentzsch, Kristin; May, Stephanie; Michaelsen, Meike; Schwenk, Benjamin M.; Tan, Jing; Schoser, Benedikt; Dieterich, Marianne; Petrucelli, Leonard; Hölter, Sabine M.; Wurst, Wolfgang; Fuchs, Helmut; Gailus-Durner, Valerie; Hrabe de Angelis, Martin; Klopstock, Thomas; Arzberger, Thomas und Edbauer, Dieter
(2017):
Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss.
In: Acta Neuropathologica, Bd. 134, Nr. 2: S. 241-254
Salminen, Aaro V.; Garrett, Lillian; Schormair, Barbara; Rozman, Jan; Giesert, Florian; Niedermeier, Kristina M.; Becker, Lore; Rathkolb, Birgit; Racz, Ildiko; Klingenspor, Martin; Klopstock, Thomas; Wolf, Eckhard; Zimmer, Andreas; Gailus-Durner, Valerie; Torres, Miguel; Fuchs, Helmut; Hrabe de Angelis, Martin; Wurst, Wolfgang; Hölter, Sabine M. und Winkelmann, Juliane
(2017):
Meis1: effects on motor phenotypes and the sensorimotor system in mice.
In: Disease Models & Mechanisms, Bd. 10, Nr. 8: S. 981-991
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
Müller, Stefanie H.; Girard, Simon L.; Hopfner, Franziska; Merner, Nancy D.; Bourassa, Cynthia V.; Lorenz, Delia; Clark, Lorraine N.; Tittmann, Lukas; Soto-Ortolaza, Alexandra I.; Klebe, Stephan; Hallett, Mark; Schneider, Susanne A.; Hodgkinson, Colin A.; Lieb, Wolfgang; Wszolek, Zbigniew K.; Pendziwiat, Manuela; Lorenzo-Betancor, Oswaldo; Poewe, Werner; Ortega-Cubero, Sara; Seppi, Klaus; Rajput, Alex; Hussl, Anna; Rajput, Ali H.; Berg, Daniela; Dion, Patrick A.; Wurster, Isabel; Shulman, Joshua M.; Srulijes, Karin; Haubenberger, Dietrich; Pastor, Pau; Vilariño-Güell, Carles; Postuma, Ronald B.; Bernard, Geneviève; Ladwig, Karl-Heinz; Dupré, Nicolas; Jankovic, Joseph; Strauch, Konstantin; Panisset, Michel; Winkelmann, Juliane; Testa, Claudia M.; Zeuner, Kirsten E.; Reischl, Eva; Ross, Owen A.; Arzberger, Thomas; Chouinard, Sylvain; Deuschl, Günther; Louis, Elan D.; Kuhlenbäumer, Gregor und Rouleau, Guy A.
(2016):
Genome-wide association study in essential tremor identifies three new loci.
In: Brain, Bd. 139: S. 3163-3169
Li, Jin; Jørgensen, Silje F.; Maggadottir, S. Melkorka; Bakay, Marina; Warnatz, Klaus; Glessner, Joseph; Pandey, Rahul; Salzer, Ulrich; Schmidt, Reinhold E.; Perez, Elena; Resnick, Elena; Goldacker, Sigune; Buchta, Mary; Witte, Torsten; Padyukov, Leonid; Videm, Vibeke; Folseraas, Trine; Atschekzei, Faranaz; Elder, James T.; Nair, Rajan P.; Winkelmann, Juliane; Gieger, Christian; Nöthen, Markus M.; Büning, Carsten; Brand, Stephan; Sullivan, Kathleen E.; Orange, Jordan S.; Fevang, Børre; Schreiber, Stefan; Lieb, Wolfgang; Aukrust, Pål; Chapel, Helen; Cunningham-Rundles, Charlotte; Franke, Andre; Karlsen, Tom H.; Grimbacher, Bodo; Hakonarson, Hakon; Hammarström, Lennart und Ellinghaus, Eva
(2015):
Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells.
In: Nature Communications, Bd. 6, 6804
[PDF, 807kB]
Mühlau, Mark; Winkelmann, Juliane; Rujescu, Dan; Giegling, Ina; Koutsouleris, Nikolaos; Gaser, Christian; Arsic, Milan; Weindl, Adolph; Reiser, Maximilian und Meisenzahl, Eva M.
(2012):
Variation within the Huntington's disease gene influences normal brain structure.
In: PLOS ONE 7(1), e29809 [PDF, 516kB]
In: PLOS ONE 7(1), e29809 [PDF, 516kB]
Arnold, Matthias; Hartsperger, Mara L.; Baurecht, Hansjoerg; Rodriguez, Elke; Wachinger, Benedikt; Franke, Andre; Kabesch, Michael; Winkelmann, Juliane; Pfeufer, Arne; Romanos, Marcel; Illig, Thomas; Mewes, Hans-Werner; Stuempflen, Volker und Weidinger, Stephan
(2012):
Network-based SNP meta-analysis identifies joint and disjoint genetic features across common human diseases.
In: BMC Genomics
13:490
[PDF, 2MB]
Winkelmann, Juliane; Czamara, Darina; Schormair, Barbara; Knauf, Franziska; Schulte, Eva C.; Trenkwalder, Claudia; Dauvilliers, Yves; Polo, Olli; Hoegl, Birgit; Berger, Klaus; Fuhs, Andrea; Gross, Nadine; Stiasny-Kolster, Karin; Oertel, Wolfgang; Bachmann, Cornelius G.; Paulus, Walter; Xiong, Lan; Montplaisir, Jacques; Rouleau, Guy A.; Fietze, Ingo; Vavrova, Jana; Kemlink, David; Sonka, Karel; Nevsimalova, Sona; Lin, Siong-Chi; Wszolek, Zbigniew; Vilarino-Gueell, Carles; Farrer, Matthew J.; Gschliesser, Viola; Frauscher, Birgit; Falkenstetter, Tina; Poewe, Werner; Allen, Richard P.; Earley, Christopher J.; Ondo, William G.; Le, Wei-Dong; Spieler, Derek; Kaffe, Maria; Zimprich, Alexander; Kettunen, Johannes; Perola, Markus; Silander, Kaisa; Cournu-Rebeix, Isabelle; Francavilla, Marcella; Fontenille, Claire; Fontaine, Bertrand; Vodicka, Pavel; Prokisch, Holger; Lichtner, Peter; Peppard, Paul; Faraco, Juliette; Mignot, Emmanuel; Gieger, Christian; Illig, Thomas; Wichmann, Heinz-Erich; Mueller-Myhsok, Bertram und Meitinger, Thomas
(Juli 2011):
Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1.
In: PLOS Genetics 7(7), e1002171 [PDF, 683kB]
In: PLOS Genetics 7(7), e1002171 [PDF, 683kB]
Schormair, Barbara; Plag, Jens; Kaffe, Maria; Gross, Nadine; Czamara, Darina; Samtleben, Walter; Lichtner, Peter; Ströhle, Andreas; Stefanidis, Ioannis; Vainas, Andreas; Dardiotis, Efthimios; Sakkas, George K.; Gieger, Christian; Müller-Myhsok, Bertram; Meitinger, Thomas; Heemann, Uwe; Hadjigeorgiou, Georgios M.; Oexle, Konrad und Winkelmann, Juliane
(Juli 2011):
MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease.
In: Journal of medical genetics, Bd. 48, Nr. 7: S. 462-466
[PDF, 131kB]
Hopfner, Franziska; Schormair, Barbara; Knauf, Franziska; Berthele, Achim; Toelle, Thomas R.; Baron, Ralf; Maier, Christoph; Treede, Rolf-Detlef; Binder, Andreas; Sommer, Claudia; Maihoefner, Christian; Kunz, Wolfram; Zimprich, Friedrich; Heemann, Uwe; Pfeufer, Arne; Naebauer, Michael; Kaeaeb, Stefan; Nowak, Barbara; Gieger, Christian; Lichtner, Peter; Trenkwalder, Claudia; Oexle, Konrad und Winkelmann, Juliane
(2011):
Novel SCARB2 mutation in Action Myoclonus-Renal Failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.
In: BMC Neurology
11:134
[PDF, 731kB]
Buchbeitrag
Salminen, Aaro V.; Lam, Daniel D. und Winkelmann, Juliane
(2019):
Role of MEIS1 in restless legs syndrome: From GWAS to functional studies in mice.
In:
ACADEMIC PRESS LTD-ELSEVIER SCIENCE LTD. S. 175-184