Canlyniadau Chwilio - Janina Gburek‐Augustat

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  1. 1
    Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts

    Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts gan Matthis Synofzik, Rebecca Schüle, Martin Schulze, Janina Gburek‐Augustat, Roland Schweizer, Anja Schirmacher, Ingeborg Krägeloh‐Mann, Michael Gonzalez, Peter Young, Stephan Züchner, Lüdger Schöls, Peter Bauer

    Cyhoeddwyd 2014
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  2. 2
    Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

    Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum gan Matthis Synofzik, Anne S. Soehn, Janina Gburek‐Augustat, Julia Schicks, Kathrin N. Karle, Rebecca Schüle, Tobias B. Haack, M. Schöning, Saskia Biskup, Sabine Rudnik–Schöneborn, Jan Senderek, Karl‐Titus Hoffmann, Patrick MacLeod, Johannes Schwarz, Benjamin Bender, Stefan Krüger, Friedmar R. Kreuz, Peter Bauer, Lüdger Schöls

    Cyhoeddwyd 2013
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  3. 3
    De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

    De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function gan Matthis Synofzik, Katherine L. Helbig, Florian Harmuth, Tine Deconinck, Pranoot Tanpaiboon, Bo Sun, Wenting Guo, Ruiwu Wang, Erika Palmaer, Sha Tang, G. Bradley Schaefer, Janina Gburek‐Augustat, Stephan Züchner, Ingeborg Krägeloh‐Mann, Jonathan Baets, Peter De Jonghe, Peter Bauer, S.R. Wayne Chen, Lüdger Schöls, Rebecca Schüle

    Cyhoeddwyd 2018
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  4. 4
    Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients

    Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients gan Andreas Traschütz, Astrid Adarmes‐Gómez, Mathieu Anheim, Jonathan Baets, Björn Falkenburger, Janina Gburek‐Augustat, Sarah Doss, Christoph Kamm, Péter Klivényi, Marcus Grobe‐Einsler, Thomas Klopstock, Martina Minnerop, Alexander Münchau, Chiara Pane, M. Renaud, Filippo M. Santorelli, Lüdger Schöls, Dagmar Timmann, Stefan Vielhaber, Tobias B. Haack, Bart P.C. van de Warrenburg, Ginevra Zanni, Matthis Synofzik

    Cyhoeddwyd 2023
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  5. 5
    Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients

    Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients gan Andreas Traschütz, Astrid Adarmes‐Gómez, Mathieu Anheim, Jonathan Baets, Bernard Brais, Cynthia Gagnon, Janina Gburek‐Augustat, Sarah Doss, Haşmet Hanağası, Christoph Kamm, Péter Klivényi, Thomas Klockgether, Thomas Klopstock, Martina Minnerop, Alexander Münchau, M. Renaud, Filippo M. Santorelli, Lüdger Schöls, Andreas Thieme, Stefan Vielhaber, Bart P.C. van de Warrenburg, Ginevra Zanni, R.-D Hilgers, Matthis Synofzik

    Cyhoeddwyd 2023
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  6. 6
    Oligoclonal bands predict multiple sclerosis in children with optic neuritis

    Oligoclonal bands predict multiple sclerosis in children with optic neuritis gan Nicole Heußinger, Evangelos Kontopantelis, Janina Gburek‐Augustat, Andreas Jenke, G. Vollrath, Rudolf Korinthenberg, Peter Hofstetter, Sascha Meyer, Isabel Brecht, Barbara Kornek, Peter Herkenrath, Mareike Schimmel, K. Wenner, Martin Häusler, S. Lutz, Michael Karenfort, Astrid Blaschek, Martin Smitka, Stephanie Karch, Martin Piepkorn, Kevin Rostásy, Thomas Lücke, Christian Weber, Regina Trollmann, Jörg Klepper, Martin Häussler, Regina Hofmann, Robert Weissert, Andreas Merkenschlager, Mathias Buttmann

    Cyhoeddwyd 2015
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  7. 7
    Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i>

    Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i> gan Félixe Pelletier, Stefanie Perrier, Ferdy Kurniawan Cayami, Amytice Mirchi, Stéphan Saïkali, Luan T. Tran, Nicole Ulrick, Kether Guerrero, Emmanouil Rampakakis, Rosalina M.L. van Spaendonk, Sakkubai Naidu, Daniela Pohl, William T. Gibson, Michelle Demos, Cyril Goizet, Ingrid Tejera-Martin, Ana Potic, Brent L. Fogel, Bernard Brais, Michel Sylvain, Guillaume Sébire, Charles Marques Lourenço, Joshua L. Bonkowsky, Coriene E. Catsman‐Berrevoets, Pedro Soares Pinto, Sandya Tirupathi, Petter Strømme, Ton de Grauw, Dorota Gieruszczak‐Białek, Ingeborg Krägeloh‐Mann, Hanna Mierzewska, Heike Philippi, Julia Rankin, Tahir Atık, Brenda Banwell, William Benko, Astrid Blaschek, Annette Bley, Eugen Boltshauser, Drago Bratkovic, Klára Brožová, Icíar Cimas, Christopher Clough, Bernard Corenblum, Argirios Dinopoulos, Gail Dolan, Flavio Faletra, Raymond Fernandez, Janice M. Fletcher, María Eugenia García, Paolo Gasparini, Janina Gburek‐Augustat, Dolores González Morón, Aline I. Hamati, Inga Harting, Christoph Hertzberg, Alan Hill, Grace M. Hobson, A. Micheil Innes, Marcelo Kauffman, Susan M. Kirwin, Gerhard Kluger, Petra Kolditz, Urania Kotzaeridou, Roberta La Piana, Eriskay Liston, W. McClintock, Meriel McEntagart, Fiona McKenzie, Serge B. Melançon, Anjum Misbahuddin, Mohnish Suri, Fernando Montón, Sébastien Moutton, Raymond P. Murphy, Miriam Nickel, Hüseyin Önay, Simona Orcesi, Ferda Özkınay, Steffi Patzer, Hélio Pedro, Sandra Pekić, M. Pineda, Amy Pizzino, Barbara Plecko, Bwee Tien Poll‐The, Vera Popović, D. Rating, Marie‐France Rioux, N. Rodríguez-Espinosa, Anne Ronan, John R. Østergaard, Elsa Rossignol, Rocío Sánchez‐Carpintero, Anna Schossig, Nesrin Şenbil, Laura Roos, Cathy A. Stevens, Matthis Synofzik, László Sztriha

    Cyhoeddwyd 2020
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