Name: Martje Gesine Pauly

Date of Birth: December 1st, 1990

Place of Birth: Celle, Germany

Position/Title: Research fellow at the Institute of Neurogenetics, University of Lübeck

Address: Institute of Neurogenetics, University of Lübeck
Ratzeburger Allee 160, 23538 Lübeck, Germany

Phone: +49-451-31018211; Fax: +49-451-31018225
Email: martje.pauly@neuro.uni-luebeck.de

2010 – 2017: Medical School (University of Lübeck) including elective periods abroad:

• Sultan Qaboos University Hospital, Maskat, Oman (Neurosurgery, 2014)
• St. John’s Medical College Hospital, Bangalore, India (Accident & Emergency, 2016)
• National Hospital for Neurology and Neurosurgery, London, UK (Neurology, 2017)

2013 – 2018: Medical Thesis (Laboratory of Christine Klein, Institute of Neurogenetics, University of Lübeck; “Einfluss der Kulturmethode auf die neurale Induktion von induzierten pluripotenten Stammzellen” [Influence of culture method on neural induction of induced pluripotent stem cells])

2016 – 2017: Final year studies

• Neurology, Segeberger Kliniken, Bad Segeberg, Germany
• Neurology, The Clinical Center of Serbia, Belgrad, Serbien
• Surgery, Tupua Tamasese Meaole Hospital, Apia, Samoa
• Surgery, Freeman Hospital, Newcastle, UK
• Internal Medicine, Sana Klinik Eutin, Eutin, Germany

2018 – present: Research fellow at the Institute of Neurogenetics, University of Lübeck

2017: Schleswig-Holstein (S-H) College of Physicians General License

1. Pauly MG, Brüggemann N, Efthymiou S, Grözinger A, Diaw SH, Chelban V, Turchetti V, Vona B, Tadic V, Houlden H, Münchau A, Lohmann K. Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder. International Journal of Molecular Sciences 2023;3
2. Herzog R, Berger TM, Pauly MG, Xue H, Rueckert E, Münchau A, Bäumer T, Weissbach A. Cerebellar transcranial current stimulation – An intraindividual comparison of different techniques. Frontiers in Neuroscience 2022:987472.
3. Becker LF, Tunc S, Murphy P, Bäumer T, Weissbach A, Pauly MG, Al-Shorafat DM, Saranza G, Lang AE, Beste C, Donner TH, Verrel J, Münchau A. Time estimation and arousal responses in dopa-responsive dystonia. Scientific Reports 2022;1:14279.
4. Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noël L, Deconinck T, Vural A, Ertan S, Dogu O, Uysal H, Brankovic V, Herzog R, Brice A, Durr A, Klebe S, Stock F, Bischoff AT, Rattay TW, Sobrido MJ, De Michele G, De Jonghe P, Klopstock T, Lohmann K, Zanni G, Santorelli FM, Timmerman V, Haack TB, Züchner S, PREPARE Consortium, Schüle R, Stevanin G, Synofzik M, Basak AN, Baets J. De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia. Movement Disorders : official Journal of The Movement Disorder Society 2022;6:1175-1186.
5. Pauly MG, Barlage M, Hamami F, Steinhardt J, Baarbé J, Tran S, Hanssen H, Herzog R, Tadic V, Brüggemann N, Chen R, Münchau A, Bäumer T, Weissbach A. Subthalamic nucleus conditioning reduces premotor-motor interaction in Parkinson's disease. Parkinsonism & Related Disorders 2022:6-12.
6. Weissbach A, Pauly MG, Herzog R, Hahn L, Halmans S, Hamami F, Bolte C, Camargos S, Jeon B, Kurian MA, Opladen T, Brüggemann N, Huppertz HJ, König IR, Klein C, Lohmann K. Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review. Movement Disorders : official Journal of The Movement Disorder Society 2021;2:237-252.
7. Coutelier M, Jacoupy M, Janer A, Renaud F, Auger N, Saripella GV, Ancien F, Pucci F, Rooman M, Gilis D, Larivière R, Sgarioto N, Valter R, Guillot-Noel L, Le Ber I, Sayah S, Charles P, Nümann A, Pauly MG, Helmchen C, Deininger N, Haack TB, Brais B, Brice A, Trégouët DA, El Hachimi KH, Shoubridge EA, Durr A, Stevanin G. NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia. Brain : A Journal of Neurology 2021;4:1519-1534.
8. Krajka V, Naujock M, Pauly MG, Stengel F, Meier B, Stanslowsky N, Klein C, Seibler P, Wegner F, Capetian P. Ventral Telencephalic Patterning Protocols for Induced Pluripotent Stem Cells. Frontiers in Cell And Developmental Biology 2021:716249.
9. Pauly MG, Hellenbroich Y, Grundmann-Hauser K, Hinrichs F, Lohmann K, Brüggemann N. Compound Heterozygous DARS2 Mutations as a Mimic of Hereditary Spastic Paraplegia. Movement Disorders Clinical Practice 2021;6:972-976.
10. Weissbach A, Steinmeier A, Pauly MG, Al-Shorafat DM, Saranza G, Lang AE, Brüggemann N, Tadic V, Klein C, Lohmann K, Brown MJN, Beste C, Münchau A, Bäumer T. Multimodal Longitudinal Neurophysiological Investigations in Dopa-Responsive Dystonia. Movement Disorders : official Journal of The Movement Disorder Society 2021;8:1986-1987.
11. Pauly MG, Steinmeier A, Bolte C, Hamami F, Tzvi E, Münchau A, Bäumer T, Weissbach A. Cerebellar rTMS and PAS effectively induce cerebellar plasticity. Scientific Reports 2021;1:3070.
12. Kuipers DJS, Mandemakers W, Lu CS, Olgiati S, Breedveld GJ, Fevga C, Tadic V, Carecchio M, Osterman B, Sagi-Dain L, Wu-Chou YH, Chen CC, Chang HC, Wu SL, Yeh TH, Weng YH, Elia AE, Panteghini C, Marotta N, Pauly MG, Kühn AA, Volkmann J, Lace B, Meijer IA, Kandaswamy K, Quadri M, Garavaglia B, Lohmann K, Bauer P, Mencacci NE, Lubbe SJ, Klein C, Bertoli-Avella AM, Bonifati V. EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia. Annals of Neurology 2020;3:485-497.
13. Pauly MG, Ruiz López M, Westenberger A, Saranza G, Brüggemann N, Weissbach A, Rosales RL, Diesta CC, Jamora RDG, Reyes CJ, Madoev H, Petkovic S, Ozelius LJ, Klein C, Domingo A. Expanding Data Collection for the MDSGene Database: X-linked Dystonia-Parkinsonism as Use Case Example. Movement Disorders : official Journal of The Movement Disorder Society 2020;11:1933-1938.
14. Pauly MG, Münchau A, Brüggemann N. Severe Scratching in Spinocerebellar Ataxia 17: Another Case. Tremor And Other Hyperkinetic Movements (new York, N.y.) 2020:15.
15. Pauly MG, Tunc S, Bäumer T, Gillessen-Kaesbach G, Münchau A. Reply to: Double Trouble from POLG1 and CLCN1 Variants with Intrafamilial Phenotypic Heterogeneity. Movement Disorders Clinical Practice 2020;5:577-578.
16. Pauly MG, Tunc S, Bäumer T, Gillessen-Kaesbach G, Münchau A. “Twitching” and Stiffness in POLG1 Mutation Carriers: Red Flag or Red Herring? Mov Disord Clin Pract 2020;1:91-93.
17. Brown MJN, Weissbach A, Pauly MG, Vesia M, Gunraj C, Baarbé J, Münchau A, Bäumer T, Chen R. Somatosensory-motor cortex interactions measured using dual-site transcranial magnetic stimulation. Brain Stimul 2019;5:1229-1243.
18. Pauly MG, Krajka V, Stengel F, Seibler P, Klein C, Capetian P. Adherent vs. Free-Floating Neural Induction by Dual SMAD Inhibition for Neurosphere Cultures Derived from Human Induced Pluripotent Stem Cells. Front Cell Dev Biol 2018:3.
19. Capetian P, Azmitia L, Pauly MG, Krajka V, Stengel F, Bernhardi EM, Klett M, Meier B, Seibler P, Stanslowsky N, Moser A, Knopp A, Gillessen-Kaesbach G, Nikkhah G, Wegner F, Döbrössy M, Klein C. Plasmid-Based Generation of Induced Neural Stem Cells from Adult Human Fibroblasts. Front Cell Neurosci 2016:245.
20. Capetian P, Pauly MG, Azmitia LM, Klein C. Striatal cholinergic interneurons in isolated generalized dystonia-rationale and perspectives for stem cell-derived cellular models. Front Cell Neurosci 2014:205.