Rezultaty - Katharina Vill

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  1. 1
    High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR

    High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR od Ludwig Czibere, Siegfried Burggraf, Tobias Fleige, Birgit Glück, Lisa Marie Keitel, Olfert Landt, Jürgen Durner, Wulf Röschinger, Katharina Hohenfellner, Brunhilde Wirth, Wolfgang Müller‐Felber, Katharina Vill, Marc Becker

    Wydane 2019
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  2. 2
    Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia

    Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia od Michael Zech, Sylvia Boesch, Esther M. Maier, Ingo Borggraefe, Katharina Vill, Franco Laccone, Veronika Pilshofer, Andrés Ceballos-Baumann, Bader Alhaddad, Riccardo Berutti, Werner Poewe, Tobias B. Haack, Bernhard Haslinger, Tim M. Strom, Juliane Winkelmann

    Wydane 2016
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  3. 3
    One Year of Newborn Screening for SMA – Results of a German Pilot Project

    One Year of Newborn Screening for SMA – Results of a German Pilot Project od Katharina Vill, Heike Kölbel, Oliver Schwartz, Astrid Blaschek, Bernhard Olgemöller, Erik Harms, Siegfried Burggraf, Wulf Röschinger, Jürgen Durner, Dieter Gläser, U Nennstiel‐Ratzel, Brunhilde Wirth, Ulrike Schara, Beate Jensen, Marc Becker, Katharina Hohenfellner, Wolfgang Müller‐Felber

    Wydane 2019
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  4. 4
    Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening – Opportunity or Burden?1

    Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening – Opportunity or Burden?1 od Wolfgang Müller‐Felber, Katharina Vill, Oliver Schwartz, Dieter Gläser, U Nennstiel‐Ratzel, Brunhilde Wirth, Siegfried Burggraf, Wulf Röschinger, Marc Becker, Jürgen Durner, Katja Eggermann, C Müller, Iris Hannibal, B. Olgemöller, Ulrike Schara, Astrid Blaschek, Heike Kölbel

    Wydane 2020
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  5. 5
    Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years

    Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years od Katharina Vill, Oliver Schwartz, Astrid Blaschek, Dieter Gläser, U Nennstiel‐Ratzel, Brunhilde Wirth, Siegfried Burggraf, Wulf Röschinger, Marc Becker, Ludwig Czibere, Jürgen Durner, Katja Eggermann, Bernhard Olgemöller, Erik Harms, Ulrike Schara, Heike Kölbel, Wolfgang Müller‐Felber

    Wydane 2021
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  6. 6
    Blood DNA methylation provides an accurate biomarker of <i>KMT2B</i>-related dystonia and predicts onset

    Blood DNA methylation provides an accurate biomarker of <i>KMT2B</i>-related dystonia and predicts onset od Nazanin Mirza‐Schreiber, Michael Zech, Rory Wilson, Theresa Brunet, Matias Wagner, Robert Jech, Sylvia Boesch, Matěj Škorvánek, Ján Necpál, David Weise, Sandrina Weber, Brit Mollenhauer, Claudia Trenkwalder, Esther M. Maier, Ingo Borggraefe, Katharina Vill, Annette Hackenberg, Veronika Pilshofer, Urania Kotzaeridou, Eva Maria Christina Schwaibold, Julia Hoefele, Mélanie Waldenberger, Christian Gieger, Annette Peters, Thomas Meitinger, Barbara Schormair, Juliane Winkelmann, Konrad Oexle

    Wydane 2021
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  7. 7
    Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

    Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia od Matias Wagner, Daniel P. S. Osborn, Ina Gehweiler, Maike Nagel, Ulrike Ulmer, Somayeh Bakhtiari, Rim Amouri, Reza Boostani, Fayçal Hentati, Maryam M. Hockley, Benedikt V. Hölbling, Thomas Schwarzmayr, Ehsan Ghayoor Karimiani, Christoph Kernstock, Reza Maroofian, Wolfgang Müller‐Felber, Ege Ozkan, Sergio Padilla-López, Selina Reich, Jennifer Reichbauer, Hossein Darvish, Neda Shahmohammadibeni, Abbas Tafakhori, Katharina Vill, Stephan Züchner, Michael C. Kruer, Juliane Winkelmann, Yalda Jamshidi, Rebecca Schüle

    Wydane 2019
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  8. 8
    5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2

    5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2 od Katharina Vill, Moritz Tacke, Anna König, Matthias Baumann, Manuela Baumgärtner, Robert Steinbach, Guenther Bernert, Astrid Blaschek, Marcus Deschauer, Marina Flotats‐Bastardas, Johannes Friese, Susanne Goldbach, Martin Groß, René Günther, Andreas Hahn, Tim Hagenacker, Erwin Hauser, Veronka Horber, Sabine Illsinger, Jessika Johannsen, Christoph Kamm, Jan Christoph Koch, H. Koelbel, Cornelia Koehler, Kirsten Kolzter, Hanns Lochmüller, Albert C. Ludolph, Alexander Mensch, Gerd Meyer zu Hoerste, Monika Mueller, Wolfgang Mueller‐Felber, Christoph Neuwirth, Susanne Petri, Kristina Probst-Schendzielorz, Manuel Pühringer, Robert Steinbach, Ulrike Schara‐Schmidt, Mareike Schimmel, Bertold Schrank, Oliver Schwartz, Kurt Schlachter, Annette Schwerin-Nagel, Gudrun Schreiber, Martin Smitka, Raffi Topakian, Regina Trollmann, Matthias Tuerk, Manuela Theophil, Christian Rauscher, Mathias Vorgerd, Maggie C. Walter, Markus Weiler, Claudia Weiß, Ekkehard Wilichowski, Claudia D. Wurster, Gilbert Wunderlich, Daniel Zeller, Andreas Ziegler, Janbernd Kirschner, Astrid Pechmann

    Wydane 2024
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  9. 9
    Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia

    Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia od Michael Zech, Ivana Dzinovic, Matěj Škorvánek, Philip Harrer, Ján Necpál, Robert Kopajtich, Volker Kittke, Erik Tilch, Chen Zhao, Eugenia Tsoma, Ugo Sorrentino, Elisabetta Indelicato, A. Stehr, Alice Saparov, Lucia Abela, Miriam Adamovičová, Alexandra Afenjar, Birgit Assmann, Janette Baloghová, Matthias Baumann, Riccardo Berutti, Zuzana Brežná, Melanie Brugger, Theresa Brunet, Benjamin Cogné, Isabel Colangelo, Erin Conboy, Ertan Mayatepek, Matthias Eckenweiler, Barbara Garavaglia, Arie Geerlof, Elisabeth Graf, Annette Hackenberg, Denisa Harvanová, Bernhard Haslinger, Petra Havránková, Georg F. Hoffmann, Wibke G. Janzarik, Boris Keren, Miriam Kolníková, Konstantinos Kolokotronis, Zuzana Košutzká, Anne Koy, Martin Krenn, Magdalena Krygier, Katarína Kušíková, Oliver Maier, Thomas Meitinger, Christian Mertes, Ivan Milenković, Edoardo Monfrini, André Mourão, Thomas Musacchio, Mathilde Nizon, Miriam Ostrožovičová, Martin Pavlov, Iva Příhodová, Irena Rektorová, Luigi Romito, Barbora Rybanska, Ariane Sadr‐Nabavi, Susanne Schwenger, Ali Shoeibi, Alexandra Sitzberger, Dmitrii Smirnov, Jana Svantnerova, Raushana Tautanova, Sandra P. Toelle, Olga Ulmanová, Francesco Vetrini, Katharina Vill, Matias Wagner, David Weise, Giovanna Zorzi, Alessio Di Fonzo, Konrad Oexle, Steffen Berweck, Volker Mall, Sylvia Boesch, Barbara Schormair, Holger Prokisch, Robert Jech, H. Mann

    Wydane 2025
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  10. 10
    Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

    Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies od Annette Lischka, Katja Eggermann, Christopher J. Record, Maike F. Dohrn, Petra Laššuthová, Florian Kraft, Matthias Begemann, Daniela Dey, Thomas Eggermann, Danique Beijer, Jana Šoukalová, Matilde Laurá, Alexander M. Rossor, Radim Mazanec, Jonas Van Lent, Pedro José Tomaselli, Martin Ungelenk, Karlien Debus, Shawna Feely, Dieter Gläser, Sujatha Jagadeesh, Madelena Martin, Geeta Govindaraj, Pratibha Singhi, Revanth Baineni, Niranjan Biswal, Marisol Ibarra‐Ramírez, M Bonduelle, Burkhard Gess, Juan Romero Sánchez, Renu Suthar, Vrajesh Udani, Atchayaram Nalini, Gopikrishnan Unnikrishnan, Wilson Marques, Sandra Mercier, Vincent Procaccio, Céline Bris, Beena Suresh, Vaishnavi Reddy, Mariola Skorupinska, Nathalie Bonello‐Palot, Fanny Mochel, Georg Dahl, Karthika Sasidharan, Fiji Madona Devassikutty, Sheela Nampoothiri, Maria Juliana R. Doriqui, Wolfgang Müller‐Felber, Katharina Vill, Tobias B. Haack, Andreas Dufke, Michael Abele, Rolf Stucka, Saima Siddiqi, Noor Ullah, Stephanie Spranger, Deborah Chiabrando, Behiye Bolgül, Yeşim Parman, Pavel Seeman, Angelika Lampert, Jörg B. Schulz, John N. Wood, James J. Cox, Michaela Auer‐Grumbach, Vincent Timmerman, Jonathan De Winter, Andreas C. Themistocleous, Michael E. Shy, David Bennett, Jonathan Baets, Christian A. Hübner, Enrico Leipold, Stephan Züchner, Miriam Elbracht, Arman Çakar, Jan Senderek, Thorsten Hornemann, C. Geoffrey Woods, Mary M. Reilly, Ingo Kurth

    Wydane 2023
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  11. 11
    Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

    Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia od Darius Ebrahimi‐Fakhari, Julian Teinert, Robert Behne, Miriam Wimmer, Angelica D’Amore, Kathrin Eberhardt, Barbara Brechmann, M. L. ZIEGLER, Dana M. Jensen, Premsai Nagabhyrava, Gregory Geisel, Erin Carmody, Uzma Shamshad, Kira A. Dies, Christopher J. Yuskaitis, Catherine L. Salussolia, Daniel Ebrahimi‐Fakhari, Toni S. Pearson, Afshin Saffari, Andreas Ziegler, Stefan Kölker, Jens Volkmann, Antje Wiesener, David Bearden, Shenela Lakhani, Devorah Segal, Anaita Hegde, Andrea Martinuzzi, Jennifer Hirst, Seth J. Perlman, Yoshihisa Takiyama, Georgia Xiromerisiou, Katharina Vill, William O. Walker, Anju Shukla, Rachana Dubey Gupta, Niklas Dahl, Ayşe Aksoy, Hélène Verhelst, Mauricio R. Delgado, Radka Kremlíková Pourová, Abdelrahim A. Sadek, Nour Elkhateeb, Lubov Blumkin, Alejandro Brea‐Fernández, David Dacruz-Álvarez, Thomas Smol, Jamal Ghoumid, Diego Miguel, Constanze Heine, Jan-Ulrich Schlump, Hendrik Langen, Jonathan Baets, Saskia Bulk, Hossein Darvish, Somayeh Bakhtiari, Michael C. Kruer, Elizabeth Lim-Melia, Nur Aydınli̇, Yasemin Alanay, Omnia Fathy El-Rashidy, Sheela Nampoothiri, Chirag Patel, Christian Beetz, Peter Bauer, Grace Yoon, M Guillot, Steven P. Miller, Thomas Bourinaris, Henry Houlden, Laura Robelin, Mathieu Anheim, Abdullah Alamri, Adel Mahmoud, Soroor Inaloo, Parham Habibzadeh, Mohammad Ali Faghihi, Anna Jansen, Stefanie Brock, Agathe Roubertie, Basil T. Darras, Pankaj B. Agrawal, Filippo M. Santorelli, Joseph G. Gleeson, Maha S. Zaki, Sarah Sheikh, James T. Bennett, Mustafa Şahin

    Wydane 2019
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  12. 12
    Monogenic variants in dystonia: an exome-wide sequencing study

    Monogenic variants in dystonia: an exome-wide sequencing study od Michael Zech, Robert Jech, Sylvia Boesch, Matěj Škorvánek, Sandrina Weber, Matias Wagner, Chen Zhao, Angela Jochim, Ján Necpál, Yasemin Dincer, Katharina Vill, Felix Distelmaier, Malgorzata Stoklosa, Martin Krenn, Stephan Grunwald, Tobias Bock-Bierbaum, Anna Fečíková, Petra Havránková, Jan Roth, Iva Příhodová, Miriam Adamovičová, Olga Ulmanová, Karel Bechyně, Pavlína Danhofer, Branislav Veselý, Vladimír Haň, Petra Pavelekova, Zuzana Gdovinová, Tobias Mantel, Tobias Meindl, Alexandra Sitzberger, Sebastian Schröder, Astrid Blaschek, Timo Roser, Michaela Bonfert, Edda Haberlandt, Barbara Plecko, Birgit Leineweber, Steffen Berweck, T. Herberhold, Berthold Langguth, Jana Švantnerová, Michal Minár, Gonzalo Alonso Ramos-Rivera, Monica H. Wojcik, Sander Pajusalu, Katrin Õunap, Ulrich A. Schatz, Laura Pölsler, Ivan Milenković, Franco Laccone, Veronika Pilshofer, Roberto Colombo, Steffi Patzer, Arcangela Iuso, Julia Vera, M. Troncoso, Fang Fang, Holger Prokisch, Friederike Wilbert, Matthias Eckenweiler, Elisabeth Graf, Dominik S. Westphal, Korbinian M. Riedhammer, Theresa Brunet, Bader Alhaddad, Riccardo Berutti, Tim M. Strom, Martin Hecht, Matthias Baumann, Marc E. Wolf, Aida Telegrafi, Richard Person, Francisca Millan Zamora, Lindsay B. Henderson, David Weise, Thomas Musacchio, Jens Volkmann, Anna Szuto, Jessica Becker, Kirsten Cremer, Thomas Sycha, Fritz Zimprich, Verena Kraus, Christine Makowski, Pedro Gonzalez‐Alegre, Tanya Bardakjian, Laurie J. Ozelius, Annalisa Vetro, Renzo Guerrini, Esther M. Maier, Ingo Borggraefe, Alice Kuster, Saskia B. Wortmann, Annette Hackenberg, Robert Steinfeld, Birgit Assmann, Christian Staufner, Thomas Opladen, Evžen Růžička

    Wydane 2020
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  13. 13
    Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study

    Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study od Astrid Pechmann, Max Behrens, Katharina Dörnbrack, Adrian Tassoni, Franziska Wenzel, Sabine Stein, Sibylle Emilie Vogt, Daniela Zöller, G. Bernert, Tim Hagenacker, Ulrike Schara‐Schmidt, Maggie C. Walter, Astrid Bertsche, Katharina Vill, Matthias Baumann, Manuela Baumgärtner, Isabell Cordts, Astrid Eisenkölbl, Marina Flotats‐Bastardas, Johannes Friese, René Günther, Andreas Hahn, Veronka Horber, Ralf A. Husain, Sabine Illsinger, Jörg Jahnel, Jessika Johannsen, Cornelia Köhler, Heike Kölbel, Monika Müller, Arpad von Moers, Annette Schwerin-Nagel, Christof Reihle, Kurt Schlachter, Gudrun Schreiber, Oliver Schwartz, Martin Smitka, Elisabeth Steiner, Regina Trollmann, Markus Weiler, Claudia Weiß, Gert Wiegand, Ekkehard Wilichowski, Andreas Ziegler, Hanns Lochmüller, Janbernd Kirschner, Lisa Ameshofer, Bárbara Andres, Daniela Angelova-Toshkina, Daniela Banholzer, Christina Bant, Petra Baum, Sandra Baumann, Ute Baur, Benedikt Becker, Bettina Behring, Julia Bellut, Andrea Bevot, Jasmin Bischofberger, Lisa Bitzan, Bogdan Bjelica, Markus Blankenburg, Sandra Böger, Friederike Bonetti, Anke Bongartz, Svenja Brakemeier, Lisa Bratka, Nathalie Braun, Sarah Braun, Brigitte Brauner, Christa Bretschneider, Nadine Burgenmeister, Bea Burke, Sebahattin Çırak, Andrea Dall, Heike de Vries, Adela Della Marina, Jonas Denecke, Marcus Deschauer, Zylfie Dibrani, Uta Diebold, Lutz Dondit, Jessica Drebes, Joenna Driemeyer, Vladimir Dukic, Matthias Eckenweiler, Mirjam Eminger, Michal Fischer, Cornelia Fischer, Maren Freigang, Philippa Gaiser, Andrea Gangfuß, Stephanie Geitmann, Annette George, Magdalena Gosk-Tomek, Susanne Grinzinger, Kristina Gröning, Martin Groß, Anne‐Katrin Güttsches, Anna Hagenmeyer

    Wydane 2022
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  14. 14
    Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

    Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness od Ana Töpf, Katherine Johnson, Adam Bates, Lauren Phillips, Katherine R. Chao, Eleina England, Kristen M. Laricchia, T. Mullen, Elise Valkanas, Liwen Xu, Marta Bértoli, A. Blain, Ana Casasús, Jennifer Duff, Magdalena Mroczek, Sabine Specht, Monkol Lek, Monica Ensini, Daniel G. MacArthur, Ela Akay, Jorge Alonso‐Pérez, Jonathan Baets, Nina Barišić, Alexandra Bastian, S. Borell, Teodora Chamova, Kristl G. Claeys, Jaume Colomer, Sandra Coppens, Nicolas Deconinck, Willem De Ridder, Jordi Díaz‐Manera, Cristina Domínguez‐González, Alexis E. Duncan, Hacer Durmuş, Nagia Fahmy, Maria Elena Farrugia, Roberto Fernández‐Torrón, Lídia González-Quereda, Jana Haberlová, Maja von der Hagen, Andreas Hahn, Antonia Jakovčević, I. Jericó Pascual, Solange Kapetanovic, Viktorija Ķēniņa, Janbernd Kirschner, Andrea Klein, Heike Kölbel, Anna Kostera‐Pruszczyk, R. Kulshrestha, Jaana Lähdetie, Mahsa Layegh, Cheryl Longman, Adolfo López de Munaín, Wolfgang N. Löscher, Anna Łusakowska, Paul Maddison, Armelle Magot, Anirban Majumdar, Pilar Martí, Amaia Martínez Arroyo, Radim Mazanec, Sandra Mercier, Tiziana Mongini, Nuria Muelas, A. Nascimento, Shahriar Nafissi, Shirin Jamal Omidi, C. Ortez, Stéphanie Paquay, Yann Péréon, Stojan Perić, Valentina Ponzalino, Vidosava Rakočević Stojanović, Gauthier Remiche, Aida Rodríguez Sainz, Sabine Rudnik, I Sánchez Albisua, Manuela Santos, Ulrike Schara, Andriy Shatillo, Jadranka Sertić, Ulrich Stephani, Sonja Strang‐Karlsson, Yves Sznajer, Ani Tanev, Ivailo Tournev, Peter Van den Bergh, Vinciane Van Parijs, Juan J. Vílchez, Katharina Vill, John Vissing, Carina Wallgren‐Pettersson, Julia Wanschitz, Tracey Willis, Nanna Witting, Miren Zulaica, Volker Straub

    Wydane 2020
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