Martje Pauly

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

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

Victor Krajka, Maximilian Naujock, Martje G. Pauly, Felix Stengel, Britta Meier, Nancy Stanslowsky, Christine Klein, Philip Seibler, Florian Wegner, and Philipp Capetian,
Ventral Telencephalic Patterning Protocols for Induced Pluripotent Stem Cells, Front Cell Dev Biol , vol. 9, pp. 716249, 2021.

DOI:	10.3389/fcell.2021.716249