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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 19
2024
Figueroa, Karla P.; Gross, Caspar 
ORCID: https://orcid.org/0000-0002-9009-5458; Buena-Atienza, Elena ORCID: https://orcid.org/0000-0002-9890-1960; Paul, Sharan; Gandelman, Mandi; Kakar, Naseebullah; Sturm, Marc ORCID: https://orcid.org/0000-0002-6552-8362; Casadei, Nicolas; Admard, Jakob ORCID: https://orcid.org/0000-0003-0466-582X; Park, Joohyun; Zühlke, Christine; Hellenbroich, Yorck; Pozojevic, Jelena; Balachandran, Saranya ORCID: https://orcid.org/0009-0002-4905-3093; Händler, Kristian ORCID: https://orcid.org/0000-0001-5273-5277; Zittel, Simone ORCID: https://orcid.org/0000-0002-3767-6376; Timmann, Dagmar; Erdlenbruch, Friedrich ORCID: https://orcid.org/0009-0006-0654-836X; Herrmann, Laura; Feindt, Thomas; Zenker, Martin ORCID: https://orcid.org/0000-0003-1618-9269; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Dufke, Claudia ORCID: https://orcid.org/0000-0001-5225-2443; Scoles, Daniel R.; Koeppen, Arnulf; Spielmann, Malte ORCID: https://orcid.org/0000-0002-0583-4683; Riess, Olaf ORCID: https://orcid.org/0000-0002-7011-1369; Ossowski, Stephan; Haack, Tobias B. ORCID: https://orcid.org/0000-0001-6033-4836 und Pulst, Stefan M. ORCID: https://orcid.org/0000-0003-0883-7879
(2024):
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.
In: Nature Genetics [Forthcoming]
ORCID: https://orcid.org/0000-0002-9009-5458; Buena-Atienza, Elena ORCID: https://orcid.org/0000-0002-9890-1960; Paul, Sharan; Gandelman, Mandi; Kakar, Naseebullah; Sturm, Marc ORCID: https://orcid.org/0000-0002-6552-8362; Casadei, Nicolas; Admard, Jakob ORCID: https://orcid.org/0000-0003-0466-582X; Park, Joohyun; Zühlke, Christine; Hellenbroich, Yorck; Pozojevic, Jelena; Balachandran, Saranya ORCID: https://orcid.org/0009-0002-4905-3093; Händler, Kristian ORCID: https://orcid.org/0000-0001-5273-5277; Zittel, Simone ORCID: https://orcid.org/0000-0002-3767-6376; Timmann, Dagmar; Erdlenbruch, Friedrich ORCID: https://orcid.org/0009-0006-0654-836X; Herrmann, Laura; Feindt, Thomas; Zenker, Martin ORCID: https://orcid.org/0000-0003-1618-9269; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Dufke, Claudia ORCID: https://orcid.org/0000-0001-5225-2443; Scoles, Daniel R.; Koeppen, Arnulf; Spielmann, Malte ORCID: https://orcid.org/0000-0002-0583-4683; Riess, Olaf ORCID: https://orcid.org/0000-0002-7011-1369; Ossowski, Stephan; Haack, Tobias B. ORCID: https://orcid.org/0000-0001-6033-4836 und Pulst, Stefan M. ORCID: https://orcid.org/0000-0003-0883-7879
(2024):
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.
In: Nature Genetics [Forthcoming]
2023
Traschuetz, Andreas; Adarmes-Gomez, Astrid D.; Anheim, Mathieu; Baets, Jonathan; Falkenburger, Bjoern H.; Gburek-Augustat, Janina; Doss, Sarah; Kamm, Christoph; Klivenyi, Peter; Grobe-Einsler, Marcus; Klopstock, Thomas; Minnerop, Martina; Munchau, Alexander; Pane, Chiara; Renaud, Mathilde; Santorelli, Filippo M.; Schoels, Ludger; Timmann, Dagmar; Vielhaber, Stefan; Haack, Tobias B.; van de Warrenburg, Bart P.; Zanni, Ginevra und Synofzik, Matthis
(2023):
Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients.
In: Movement Disorders, Bd. 38, Nr. 6: S. 1109-1112
[PDF, 883kB]
Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M.; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; Charles, Perrine; Stendel, Claudia; Romano, Silvia; Scarlato, Marina; Le Ber, Isabelle; Bassi, Maria Teresa; Serrano, Mercedes; Schmitz-Hubsch, Tanja; Doss, Sarah; Van Velzen, Gijs A. J.; Thomas, Quentin; Trabacca, Antonio; Ortigoza-Escobar, Juan Dario; D'Arrigo, Stefano; Timmann, Dagmar; Pantaleoni, Chiara; Martinuzzi, Andrea; Besse-Pinot, Elsa; Marsili, Luca; Cioffi, Ettore; Nicita, Francesco; Giorgetti, Alejandro; Moroni, Isabella; Romaniello, Romina; Casali, Carlo; Ponger, Penina; Casari, Giorgio; De Bot, Susanne T.; Ristori, Giovanni; Blumkin, Lubov; Borroni, Barbara; Goizet, Cyril; Marelli, Cecilia; Boesch, Sylvia; Anheim, Mathieu; Filla, Alessandro; Houlden, Henry; Bertini, Enrico; Klopstock, Thomas; Synofzik, Matthis; Riant, Florence; Zanni, Ginevra; Magri, Stefania; Di Bella, Daniela; Nanetti, Lorenzo; Sequeiros, Jorge; Oliveira, Jorge; Warrenburg, Bart Van de; Schoels, Ludger; Taroni, Franco; Brice, Alexis und Durr, Alexandra
(2023):
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
In: American Journal of Human Genetics, Bd. 110, Nr. 7:
1098-+
2022
Späth, Mona; Aichert, Ingrid; Timmann, Dagmar; Ceballos-Baumann, Andres O.; Wagner-Sonntag, Edith und Ziegler, Wolfram
(2022):
The role of the basal ganglia and cerebellum in adaptation to others' speech rate and rhythm: A study of patients with Parkinson's disease and cerebellar degeneration.
In: Cortex, Bd. 157: S. 81-98
Ekhtiari, Hamed; Ghobadi-Azbari, Peyman; Thielscher, Axel; Antal, Andrea; Li, Lucia M.; Shereen, A. Duke; Cabral-Calderin, Yuranny; Keeser, Daniel; Bergmann, Til Ole; Jamil, Asif; Violante, Ines R.; Almeida, Jorge; Meinzer, Marcus; Siebner, Hartwig R.; Woods, Adam J.; Stagg, Charlotte J.; Abend, Rany; Antonenko, Daria; Auer, Tibor; Bachinger, Marc; Baeken, Chris; Barron, Helen C.; Chase, Henry W.; Crinion, Jenny; Datta, Abhishek; Davis, Matthew H.; Ebrahimi, Mohsen; Esmaeilpour, Zeinab; Falcone, Brian; Fiori, Valentina; Ghodratitoostani, Iman; Gilam, Gadi; Grabner, Roland H.; Greenspan, Joel D.; Groen, Georg; Hartwigsen, Gesa; Hauser, Tobias U.; Herrmann, Christoph S.; Juan, Chi-Hung; Krekelberg, Bart; Lefebvre, Stephanie; Liew, Sook-Lei; Madsen, Kristoffer H.; Mahdavifar-Khayati, Rasoul; Malmir, Nastaran; Marangolo, Paola; Martin, Andrew K.; Meeker, Timothy J.; Ardabili, Hossein Mohaddes; Moisa, Marius; Momi, Davide; Mulyana, Beni; Opitz, Alexander; Orlov, Natasza; Ragert, Patrick; Ruff, Christian C.; Ruffini, Giulio; Ruttorf, Michaela; Sangchooli, Arshiya; Schellhorn, Klaus; Schlaug, Gottfried; Sehm, Bernhard; Soleimani, Ghazaleh; Tavakoli, Hosna; Thompson, Benjamin; Timmann, Dagmar; Tsuchiyagaito, Aki; Ulrich, Martin; Vosskuhl, Johannes; Weinrich, Christiane A.; Zare-Bidoky, Mehran; Zhang, Xiaochu; Zoefel, Benedikt; Nitsche, Michael A. und Bikson, Marom
(2022):
A checklist for assessing the methodological quality of concurrent tES-fMRI studies (ContES checklist): a consensus study and statement.
In: Nature Protocols, Bd. 17, Nr. 3: S. 596-617
Park, Joohyun; Tucci, Arianna; Cipriani, Valentina; Demidov, German; Rocca, Clarissa; Senderek, Jan; Butryn, Michaela; Velic, Ana; Lam, Tanya; Galanaki, Evangelia; Cali, Elisa; Vestito, Letizia; Maroofian, Reza; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Hahn, Gesa-Astrid; Bartels, Claudius; Os, Nienke J. H. van; Horvath, Rita; Chinnery, Patrick F.; Tiet, May Yung; Hewamadduma, Channa; Hadjivassiliou, Marios; Tofaris, George K.; Wood, Nicholas W.; Hayer, Stefanie N.; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Huu, Phuc Nguyen; Krauss, Joachim K.; Blahak, Christian; Strom, Tim M.; Sturm, Marc; Warrenburg, Bart vam de; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Timmann, Dagmar; Wolf, Marc E.; Smedley, Damian; Riess, Olaf; Schoels, Ludger; Houlden, Henry; Haack, Tobias B. und Hengel, Holger
(2022):
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
In: Genetics in Medicine, Bd. 24, Nr. 10: S. 2079-2090
2021
Muth, Carolin; Teufel, Julian; Schöls, Ludger; Synofzik, Matthis; Franke, Christiana; Timmann, Dagmar; Mansmann, Ulrich und Strupp, Michael
(August 2021):
Fampridine and Acetazolamide in EA2 and Related Familial EA. A Prospective Randomized Placebo-Controlled Trial.
In: Neurology: Clinical Practice, Bd. 11, Nr. 4, e438-e446
Traschuetz, Andreas; Reich, Selina; Adarmes, Astrid D.; Anheim, Mathieu; Ashrafi, Mahmoud Reza; Baets, Jonathan; Basak, A. Nazli; Bertini, Enrico; Brais, Bernard; Gagnon, Cynthia; Gburek-Augustat, Janina; Hanagasi, Hasmet A.; Heinzmann, Anna; Horvath, Rita; Jonghe, Peter de; Kamm, Christoph; Klivenyi, Peter; Klopstock, Thomas; Minnerop, Martina; Muenchau, Alexander; Renaud, Mathilde; Roxburgh, Richard H.; Santorelli, Filippo M.; Schirinzi, Tommaso; Sival, Deborah A.; Timmann, Dagmar; Vielhaber, Stefan; Wallner, Michael; Warrenburg, Bart P. van de; Zanni, Ginevra; Zuchner, Stephan; Klockgether, Thomas; Schuele, Rebecca; Schols, Ludger und Synofzik, Matthis
(25. Juni 2021):
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.
In: Frontiers in Neurology, Bd. 12, 677551
[PDF, 1MB]
Feil, Katharina; Adrion, Christine; Boesch, Sylvia; Doss, Sarah; Giordano, Ilaria; Hengel, Holger; Jacobi, Heike; Klockgether, Thomas; Klopstock, Thomas; Nachbauer, Wolfgang; Schöls, Ludger; Steiner, Katharina Marie; Stendel, Claudia; Timmann, Dagmar; Naumann, Ivonne; Mansmann, Ulrich ORCID: https://orcid.org/0000-0002-9955-8906 und Strupp, Michael
(2021):
Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia: The ALCAT Randomized Clinical Crossover Trial.
In: JAMA Network Open, Bd. 4, Nr. 12, e2135841
[PDF, 1MB]
ORCID: https://orcid.org/0000-0002-9955-8906 und Strupp, Michael
(2021):
Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia: The ALCAT Randomized Clinical Crossover Trial.
In: JAMA Network Open, Bd. 4, Nr. 12, e2135841
[PDF, 1MB]
Muth, Carolin; Teufel, Julian; Schols, Ludger; Synofzik, Matthis; Franke, Christiana; Timmann, Dagmar; Mansmann, Ulrich und Strupp, Michael
(2021):
Fampridine and Acetazolamide in EA2 and Related Familial EA A Prospective Randomized Placebo-Controlled Trial.
In: Neurology-Clinical Practice, Bd. 11, Nr. 4, E438-E446
Pelletier, Felixe; Perrier, Stefanie; Cayami, Ferdy K.; Mirchi, Amytice; Saikali, Stephan; Tran, Luan T.; Ulrick, Nicole; Guerrero, Kether; Rampakakis, Emmanouil; Spaendonk, Rosalina M. L. van; Naidu, Sakkubai; Pohl, Daniela; Gibson, William T.; Demos, Michelle; Goizet, Cyril; Tejera-Martin, Ingrid; Potic, Ana; Fogel, Brent L.; Brais, Bernard; Sylvain, Michel; Sebire, Guillaume; Lourenco, Charles Marques; Bonkowsky, Joshua L.; Catsman-Berrevoets, Coriene; Pinto, Pedro S.; Tirupathi, Sandya; Stromme, Petter; Grauw, Ton de; Gieruszczak-Bialek, Dorota; Kraegeloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S.; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Iciar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia, Maria Eugenia Garcia; Gasparini, Paolo; Gburek-Augustat, Janina; Gonzalez Moron, Dolores; Hamati, Aline; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace M.; Innes, A. Micheil; Kauffman, Marcelo; Kirwin, Susan M.; Kluger, Gerhard; Kolditz, Petra; Kotzaeridou, Urania; La Piana, Roberta; Liston, Eriskay; McClintock, William; McEntagart, Meriel; McKenzie, Fiona; Melancon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando I.; Moutton, Sebastien; Murphy, Raymond P. J.; Nickel, Miriam; Onay, Huseyin; Orcesi, Simona; Ozkinay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Marfa, Mercedes Pineda; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Espinosa, Norberto Rodriguez; Ronan, Anne; Ostergaard, John R.; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Roos, Laura K. Sonderberg; Stevens, Cathy A.; Synofzik, Matthis; Sztriha, Laszlo; Tibussek, Daniel; Timmann, Dagmar; Tonduti, Davide; Warrenburg, Bart P. van de; Vazquez-Lopez, Maria; Venkateswaran, Sunita; Wasling, Pontus; Wassmer, Evangeline; Webster, Richard I.; Wiegand, Gert; Yoon, Grace; Rotteveel, Joost; Schiffmann, Raphael; Knaap, Marjo S. van der; Vanderver, Adeline; Martos-Moreno, Gabriel A.; Polychronakos, Constantin; Wolf, Nicole I. und Bernard, Genevieve
(2021):
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
In: Journal of Clinical Endocrinology & Metabolism, Bd. 106, Nr. 2, E660-E674
Traschutz, Andreas; Cortese, Andrea; Reich, Selina; Dominik, Natalia; Faber, Jennifer; Jacobi, Heike; Hartmann, Annette M.; Rujescu, Dan; Montaut, Solveig; Echaniz-Laguna, Andoni; Erer, Sevda; Schutz, Valerie Cornelia; Tarnutzer, Alexander A.; Sturm, Marc; Haack, Tobias B.; Vaucamps-Diedhiou, Nadege; Puccio, Helene; Schols, Ludger; Klockgether, Thomas; Warrenburg, Bart P. van de; Paucar, Martin; Timmann, Dagmar; Hilgers, Ralf-Dieter; Gazulla, Jose; Strupp, Michael; Moris, German; Filla, Alessandro; Houlden, Henry; Anheim, Mathieu; Infante, Jon; Basak, A. Nazli und Synofzik, Matthis
(2021):
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
In: Neurology, Bd. 96, Nr. 9, E1369-E1382
2017
Giordano, Ilaria; Harmuth, Florian; Jacobi, Heike; Paap, Brigitte; Vielhaber, Stefan; Machts, Judith; Schöls, Ludger; Synofzik, Matthis; Sturm, Marc; Tallaksen, Chantal; Wedding, Iselin M.; Bösch, Sylvia; Eigentler, Andreas; Warrenburg, Bart van de; Gaalen, Judith van; Kamm, Christoph; Dudesek, Ales; Kang, Jun-Suk; Timmann, Dagmar; Silvestri, Gabriella; Masciullo, Marcella; Klopstock, Thomas; Neuhofer, Christiane; Ganos, Christos; Filla, Alessandro; Bauer, Peter; Montcel, Sophie Tezenas du und Klockgether, Thomas
(2017):
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.
In: Neurology, Bd. 89, Nr. 10: S. 1043-1049
[PDF, 163kB]
Minnerop, Martina; Kurzwelly, Delia; Wagner, Holger; Söhn, Anne S.; Reichbauer, Jennifer; Tao, Feifei; Rattay, Tim W.; Peitz, Michael; Rehbach, Kristina; Giorgetti, Alejandro; Pyle, Angela; Thiele, Holger; Altmüller, Janine; Timmann, Dagmar; Karaca, Ilker; Lennarz, Martina; Bäts, Jonathan; Hengel, Holger; Synofzik, Matthis; Atasu, Burcu; Feely, Shawna; Kennerson, Marina; Stendel, Claudia; Lindig, Tobias; Gonzalez, Michael A.; Stirnberg, Rüdiger; Sturm, Marc; Röske, Sandra; Jung, Johanna; Bauer, Peter; Lohmann, Ebba; Herms, Stefan; Heilmann-Heimbach, Stefanie; Nicholson, Garth; Mahanjah, Muhammad; Sharkia, Rajech; Carloni, Paolo; Brüstle, Oliver; Klopstock, Thomas; Mathews, Katherine D.; Shy, Michael E.; Jonghe, Peter de; Chinnery, Patrick F.; Horvath, Rita; Kohlhase, Jürgen; Schmitt, Ina; Wolf, Michael; Greschus, Susanne; Amunts, Katrin; Maier, Wolfgang; Schöls, Ludger; Nürnberg, Peter; Zuchner, Stephan; Klockgether, Thomas; Ramirez, Alfredo und Schüle, Rebecca
(2017):
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
In: Brain, Bd. 140: S. 1561-1578
2016
Synofzik, Matthis; Smets, Katrien; Mallaret, Martial; Di Bella, Daniela; Gallenmüller, Constanze; Baets, Jonathan; Schulze, Martin; Magri, Stefania; Sarto, Elisa; Mustafa, Mona; Deconinck, Tine; Haack, Tobias; Züchner, Stephan; Gonzalez, Michael; Timmann, Dagmar; Stendel, Claudia; Klopstock, Thomas; Durr, Alexandra; Tranchant, Christine; Sturm, Marc; Hamza, Wahiba; Nanetti, Lorenzo; Mariotti, Caterina; Koenig, Michel; Schöls, Ludger; Schüle, Rebecca; Jonghe, Peter de; Anheim, Mathieu; Taroni, Franco und Bauer, Peter
(2016):
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
In: Brain, Bd. 139: S. 1378-1393
Kutz, Dieter F.; Schmid, Barbara C.; Meindl, Tobias; Timmann, Dagmar und Kolb, Florian P.
(2016):
Contribution of the Cerebellumin Cue-Dependent Force Changes During an Isometric Precision Grip Task.
In: Cerebellum, Bd. 15, Nr. 4: S. 439-450
Bodranghien, Florian; Bastian, Amy; Casali, Carlo; Hallett, Mark; Louis, Elan D.; Manto, Mario; Mariën, Peter; Nowak, Dennis A.; Schmahmann, Jeremy D.; Serrao, Mariano; Steiner, Katharina Marie; Strupp, Michael; Tilikete, Caroline; Timmann, Dagmar und Dun, Kim van
(2016):
Consensus Paper: Revisiting the Symptoms and Signs of Cerebellar Syndrome.
In: Cerebellum, Bd. 15, Nr. 3: S. 369-391
2009
Kutz, Dieter F.; Wölfel, Alexander; Meindl, Tobias; Timmann, Dagmar und Kolb, Florian P.
(August 2009):
Spatio-Temporal Human Grip Force Analysis via Sensor Arrays.
In: Sensors, Bd. 9, Nr. 8: S. 6330-6345
[PDF, 1MB]
2004
Nowak, Dennis ORCID: https://orcid.org/0000-0001-7871-8686; Hermsdörfer, Joachim; Rost, Katrin; Timmann, Dagmar und Topka, Helge
(2004):
Predictive and reactive finger force control during catching in cerebellar degeneration.
In: Cerebellum, Bd. 3, Nr. 4: S. 227-235
ORCID: https://orcid.org/0000-0001-7871-8686; Hermsdörfer, Joachim; Rost, Katrin; Timmann, Dagmar und Topka, Helge
(2004):
Predictive and reactive finger force control during catching in cerebellar degeneration.
In: Cerebellum, Bd. 3, Nr. 4: S. 227-235