Martje Pauly

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

Rebecca Herzog, Till M. Berger, Martje G. Pauly, Honghu Xue, Elmar Rueckert, Alexander Münchau, Tobias Bäumer, and Anne Weissbach,
Cerebellar transcranial current stimulation - An intraindividual comparison of different techniques, Front Neurosci , vol. 16, pp. 987472, 2022.

DOI:	10.3389/fnins.2022.987472

Liedewei Van de Vondel, Jonathan De Winter, Danique Beijer, Giulia Coarelli, Melanie Wayand, Robin Palvadeau, Martje G. Pauly, Katrin Klein, Maren Rautenberg, Léna Guillot-Noel, Tine Deconinck, Atay Vural, Sibel Ertan, Okan Dogu, Hilmi Uysal, Vesna Brankovic, Rebecca Herzog, Alexis Brice, Alexandra Dürr, Stephan Klebe, Friedrich Stock, Almut Turid Bischoff, Tim W. Rattay, María-Jesús Sobrido, Giovanna De Michele, Peter De Jonghe, Thomas Klopstock, Katja Lohmann, Ginevra Zanni, Filippo M. Santorelli, Vincent Timmerman, Tobias B. Haack, Stephan Züchner, [GROUP] PREPARE Consortium, Rebecca Schüle, Giovanni Stevanin, Matthis Synofzik, A. Nazli Basak, and Jonathan Baets,
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia, Mov Disord , vol. 37, no. 6, pp. 1175–1186, 2022.

DOI:	10.1002/mds.28959

Anne Weissbach, Annika Steinmeier, Martje G. Pauly, Duha M. Al-Shorafat, Gerard Saranza, Anthony Lang, Norbert Brüggemann, Vera Tadic, Christine Klein, Alexander Münchau, Tobias Bäumer, and Matt J. N. Brown,
Longitudinal evaluations of somatosensory-motor inhibition in Dopa-responsive dystonia, Parkinsonism Relat Disord , vol. 95, pp. 40–46, 2022.

DOI:	10.1016/j.parkreldis.2021.12.016

Marie Coutelier, Maxime Jacoupy, Alexandre Janer, Flore Renaud, Nicolas Auger, Ganapathi-Varma Saripella, François Ancien, Fabrizio Pucci, Marianne Rooman, Dimitri Gilis, Roxanne Larivière, Nicolas Sgarioto, Rémi Valter, Léna Guillot-Noel, Isabelle Le Ber, Sabrina Sayah, Perrine Charles, Astrid Nümann, Martje G. Pauly, Christoph Helmchen, Natalie Deininger, Tobias B. Haack, Bernard Brais, Alexis Brice, David-Alexandre Trégouët, Khalid H. El Hachimi, Eric A. Shoubridge, Alexandra Dürr, and Giovanni Stevanin,
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia, Brain , vol. 145, no. 4, pp. 1519–1534, 2022.

DOI:	10.1093/brain/awab407

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