Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Martje G. Pauly"'
Autor:
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, Alexander Münchau
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)
Abstract Dopa-responsive dystonia (DRD) is caused by an impaired dopamine biosynthesis due to a GTP-cyclohydrolase-1 (GCH1) deficiency, resulting in a combination of dystonia and parkinsonism. However, the effect of GCH1 mutations and levodopa treatm
Externí odkaz:
https://doaj.org/article/06c8a7b3c4a44af0832037c6d5c69403
Autor:
Rebecca Herzog, Till M. Berger, Martje G. Pauly, Honghu Xue, Elmar Rueckert, Alexander Münchau, Tobias Bäumer, Anne Weissbach
Publikováno v:
Frontiers in Neuroscience, Vol 16 (2022)
Transcranial current stimulation (tCS) techniques have been shown to induce cortical plasticity. As an important relay in the motor system, the cerebellum is an interesting target for plasticity induction using tCS, aiming to modulate its excitabilit
Externí odkaz:
https://doaj.org/article/185b742b3c79425b965200e2ab69bbde
Autor:
Martje G. Pauly, Annika Steinmeier, Christina Bolte, Feline Hamami, Elinor Tzvi, Alexander Münchau, Tobias Bäumer, Anne Weissbach
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Abstract Non-invasive brain stimulation techniques including repetitive transcranial magnetic stimulation (rTMS), continuous theta-burst stimulation (cTBS), paired associative stimulation (PAS), and transcranial direct current stimulation (tDCS) have
Externí odkaz:
https://doaj.org/article/f40ffea0e82d424381acfa3cd506b2f2
Autor:
Martje G. Pauly, Norbert Brüggemann, Stephanie Efthymiou, Anne Grözinger, Sokhna Haissatou Diaw, Viorica Chelban, Valentina Turchetti, Barbara Vona, Vera Tadic, Henry Houlden, Alexander Münchau, Katja Lohmann
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 3, p 1874 (2023)
VPS13D is one of four human homologs of the vacuolar sorting protein 13 gene (VPS13). Biallelic pathogenic variants in the gene are associated with spastic ataxia or spastic paraplegia. Here, we report two patients with intronic pathogenic variants:
Externí odkaz:
https://doaj.org/article/7a36801c848540abbbecf66cf797d864
Autor:
Victor Krajka, Maximilian Naujock, Martje G. Pauly, Felix Stengel, Britta Meier, Nancy Stanslowsky, Christine Klein, Philip Seibler, Florian Wegner, Philipp Capetian
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
The differentiation of human induced pluripotent stem cells (hiPSCs) into specific cell types for disease modeling and restorative therapies is a key research agenda and offers the possibility to obtain patient-specific cells of interest for a wide r
Externí odkaz:
https://doaj.org/article/047a8be5c089422d895f615c4fc75e4e
Autor:
Martje G. Pauly, Victor Krajka, Felix Stengel, Philip Seibler, Christine Klein, Philipp Capetian
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 6 (2018)
Keeping neural stem cells under proliferation, followed by terminal differentiation, can substantially increase the number of neurons generated. With regard to the usability of proliferating neurospheres (NSPHs) cultures, adherent induction protocols
Externí odkaz:
https://doaj.org/article/a80b44f6616e4ce39d580aee6639f57c
Autor:
Martje G. Pauly, G. Christoph Korenke, Sokhna Haissatou Diaw, Anne Grözinger, Ana Cazurro-Gutiérrez, Belén Pérez-Dueñas, Victoria González, Alfons Macaya, Ana Teresa Serrano Antón, Borut Peterlin, Ivana Babić Božović, Aleš Maver, Alexander Münchau, Katja Lohmann
Publikováno v:
Genes; Volume 14; Issue 4; Pages: 822
Biallelic variants in the mitochondrial form of the tryptophanyl-tRNA synthetases (WARS2) can cause a neurodevelopmental disorder with movement disorders including early-onset tremor–parkinsonism syndrome. Here, we describe four new patients, who a
Autor:
Martje G. Pauly, Magdalena Barlage, Feline Hamami, Julia Steinhardt, Julianne Baarbé, Stephanie Tran, Henrike Hanssen, Rebecca Herzog, Vera Tadic, Norbert Brüggemann, Robert Chen, Alexander Münchau, Tobias Bäumer, Anne Weissbach
Publikováno v:
Parkinsonism & Related Disorders. 96:6-12
Deep brain stimulation of the subthalamic nucleus is effective to alleviate motor symptoms in advanced Parkinson's disease. Using a novel conditioning paradigm, it has been shown that deep brain stimulation pulses from electrodes in the subthalamic n
Autor:
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, Katja Lohmann
Publikováno v:
Movement Disorders. 37:237-252
Pathogenic variants in 5 genes (GCH1, TH, PTS, SPR, and QDPR), involved in dopamine/tetrahydrobiopterin biosynthesis or recycling, have been linked to Dopa-responsive dystonia (DRD). Diagnosis and treatment are often delayed due to high between- and
Autor:
Yorck Hellenbroich, Norbert Brüggemann, Katja Lohmann, Martje G. Pauly, Kathrin Grundmann-Hauser, Frauke Hinrichs
Publikováno v:
Mov Disord Clin Pract