Dr. Martje Pauly

Steven Laurie, Wouter Steyaert, Elke de Boer, Kiran Polavarapu, Nika Schuermans, Anna K. Sommer, German Demidov, Kornelia Ellwanger, Ida Paramonov, Coline Thomas, Stefan Aretz, Jonathan Baets, Elisa Benetti, Gemma Bullich, Patrick F. Chinnery, Jill Clayton-Smith, Enzo Cohen, Daniel Danis, Jean-Madeleine de Sainte Agathe, Anne-Sophie Denommé-Pichon, Jordi Diaz-Manera, Stephanie Efthymiou, Laurence Faivre, Marcos Fernandez-Callejo, Mallory Freeberg, José Garcia-Pelaez, Léna Guillot-Noel, Tobias B. Haack, Mike Hanna, Holger Hengel, Rita Horvath, Henry Houlden, Adam Jackson, Lennart Johansson, Mridul Johari, Erik-Jan Kamsteeg, Melanie Kellner, Tjitske Kleefstra, Didier Lacombe, Hanns Lochmuller, Estrella López-Martín, Alfons Macaya, Anna Marcé-Grau, Aleš Maver, Heba Morsy, Francesco Muntoni, Francesco Musacchia, Isabelle Nelson, Vincenzo Nigro, Catarina Olimpio, Carla Oliveira, Jaroslava Paulasová Schwabová, Martje G. Pauly, Borut Peterlin, Sophia Peters, Rolph Pfundt, Giulio Piluso, Davide Piscia, Manuel Posada, Selina Reich, Alessandra Renieri, Lukas Ryba, Karolis Sablauskas, Marco Savarese, Ludger Schöls, Leon Schütz, Verena Steinke-Lange, Giovanni Stevanin, Volker Straub, Marc Sturm, Morris A. Swertz, Marco Tartaglia, Iris B. A. W. Te Paske, Rachel Thompson, Annalaura Torella, Christina Trainor, Bjarne Udd, Liedewei Van de Vondel, Bart van de Warrenburg, Jeroen van Reeuwijk, Jana Vandrovcova, Antonio Vitobello, Janet Vos, Emílie Vyhnálková, Robin Wijngaard, Carlo Wilke, Doreen William, Jishu Xu, Burcu Yaldiz, Luca Zalatnai, Birte Zurek, [GROUP] Solve-RD DITF-GENTURIS, [GROUP] Solve-RD DITF-ITHACA, [GROUP] Solve-RD DITF-EURO-NMD, [GROUP] Solve-RD DITF-RND, [GROUP] Solve-RD Consortium, Anthony J. Brookes, Teresinha Evangelista, Christian Gilissen, Holm Graessner, Nicoline Hoogerbrugge, Stephan Ossowski, Olaf Riess, Rebecca Schüle, Matthis Synofzik, Alain Verloes, Leslie Matalonga, Han G. Brunner, Katja Lohmann, Richarda M. de Voer, Ana Töpf, Lisenka E. L. M. Vissers, Sergi Beltran, and Alexander Hoischen,
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses, Nat Med , 2025.

DOI:	10.1038/s41591-024-03420-w

Martje G. Pauly, Mirja Thomsen, Vera Tadic, Hauke Busch, Christel Depienne, Katja Lohmann, Christine Klein, and Norbert Brüggemann,
Insufficient effect of deep brain stimulation in a patient with KCNN2-associated myoclonus-dystonia, Parkinsonism Relat Disord , vol. 131, pp. 107260, 2025.

DOI:	10.1016/j.parkreldis.2025.107260

Ann-Sophie Kiesel, Lucia Laugwitz, Rebecca Buchert, Mona Grimmel, Sarah Baumann, Marc Sturm, Selina Reich, Martje G. Pauly, Norbert Brüggemann, Alexander Münchau, Olga Oleksiuk, Matthis Synofzik, Tobias B. Haack, and Susana Peralta,
Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disorders, Brain , pp. awae402, 2024.

DOI:	10.1093/brain/awae402

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Lisa Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M. Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schülke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C. Betz, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Isabel Spier, André Heimbach, Tim Bender, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin S. Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Meghna Ahuja Basin, Pietro Incardona, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J. Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva M. C. Schwaibold, Christian P. Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M. Okun, Urania Kotzaeridou, Georg F. Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje G. Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik S. Westphal, Tim Strom, Reka Kovacs, Korbinian M. Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Katharina Vill, Fabian Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R. Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J. Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Ernest Turro, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Nöthen, Olaf Riess, Thomas Meitinger, Heiko Krude, Peter M. Krawitz, Tobias Haack, Nadja Ehmke, and Matias Wagner,
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings, Nat Genet , vol. 56, no. 8, pp. 1644–1653, 2024.

DOI:	10.1038/s41588-024-01836-1

Andreas Dalski, Martje G. Pauly, Henrike Hanssen, Johann Hagenah, Yorck Hellenbroich, Christian Schmidt, Jassemien Strohschehn, Malte Spielmann, Christine Zühlke, and Norbert Brüggemann,
Repeat length in spinocerebellar ataxia type 4 (SCA4) predicts age at onset and disease severity, J Neurol , vol. 271, no. 9, pp. 6289–6300, 2024.

DOI:	10.1007/s00415-024-12600-0

Martje G. Pauly, Norbert Brüggemann, Stephanie Efthymiou, Anne Grözinger, Sokhna Haissatou Diaw, Viorica Chelban, Valentina Turchetti, Barbara Vona, Vera Tadic, Henry Houlden, Alexander Münchau, and Katja Lohmann,
Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder, Int J Mol Sci , vol. 24, no. 3, pp. 1874, 2023.

DOI:	10.3390/ijms24031874

Martje G. Pauly, G. Christoph Korenke, Sokhna Haissatou Diaw, Anne Grözinger, Ana Cazurro-Gutiérrez, Belen Perez-Dueñas, Victoria González, Alfons Macaya, Ana Teresa Serrano Antón, Borut Peterlin, Ivana Babić Božović, Aleš Maver, Alexander Münchau, and Katja Lohmann,
The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant, Genes , vol. 14, no. 4, pp. 822, 2023.

DOI:	10.3390/genes14040822

Anne Weissbach, Martje G. Pauly, Rebecca Herzog, Lisa Hahn, Sara Halmans, Feline Hamami, Christina Bolte, Sarah Camargos, Beomseok Jeon, Manju A. Kurian, Thomas Opladen, Norbert Brüggemann, Hans-Jürgen Huppertz, Inke R. König, Christine Klein, and Katja Lohmann,
Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review, Mov Disord , vol. 37, no. 2, pp. 237–252, 2022.

DOI:	10.1002/mds.28874

Martje G. Pauly, Magdalena Barlage, Feline Hamami, Julia Steinhardt, Julianne Baarbe, Stephanie Tran, Henrike Hanssen, Rebecca Herzog, Vera Tadic, Norbert Brüggemann, Robert Chen, Alexander Münchau, Tobias Bäumer, and Anne Weissbach,
Subthalamic nucleus conditioning reduces premotor-motor interaction in Parkinson’s disease, Parkinsonism Relat Disord , vol. 96, pp. 6–12, 2022.

DOI:	10.1016/j.parkreldis.2022.01.014

Leonie F. Becker, Sinem Tunc, Peter Murphy, Tobias Bäumer, Anne Weissbach, Martje G. Pauly, Duha M. Al-Shorafat, Gerard Saranza, Anthony E. Lang, Christian Beste, Tobias H. Donner, Julius Verrel, and Alexander Münchau,
Time estimation and arousal responses in dopa-responsive dystonia, Sci Rep , vol. 12, no. 1, pp. 14279, 2022.

DOI:	10.1038/s41598-022-17545-w