@article{UBHD-69069425,
  author={Aartsma-Rus, Annemieke and Roon-Mom, Willeke van and Lauffer, Marlen and Siezen, Christine and Duijndam, Britt and Roo, Tineke Coenen-de and Sch{\"u}le-Freyer, Rebecca and Synofzik, Matthis and Graessner, Holm},
  title={Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe},
  subtitle={development, regulation, and implementation considerations},
  year={2023},
  pages={446-454},
  language={eng},
  issn={1469-9001},
  volume={29},
  number={4 vom: Jan.},
  note={Gesehen am 26.04.2023},
  journal={RNA},
  doi={10.1261/rna.079540.122},
}
@article{UBHD-69278600,
  author={Beichert, Lukas David and Ilg, Winfried and Kessler, Christoph and Trasch{\"u}tz, Andreas and Reich, Selina and Santorelli, Filippo M. and Başak, Ayşe Nazli and Gagnon, Cynthia and Sch{\"u}le-Freyer, Rebecca and Synofzik, Matthis},
  title={Digital gait outcomes for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)},
  subtitle={discriminative, convergent, and ecological validity in a multicenter study (PROSPAX)},
  year={2024},
  pages={1544-1555},
  language={eng},
  issn={1531-8257},
  volume={39},
  number={9 vom: Sept.},
  note={Gesehen am 02.12.2024},
  journal={Movement disorders},
  doi={10.1002/mds.29876},
}
@article{UBHD-69052262,
  author={Càmara, Estela and Kr{\"a}mer, Ulrike M. and Cunillera, Toni and Marco-Pallarés, Josep and Cucurell, David and Nager, Wido and Mestres-Missé, Anna and Bauer, Peter and Sch{\"u}le-Freyer, Rebecca and Sch{\"o}ls, Ludger and Tempelmann, Claus and Rodriguez-Fornells, Antoni and M{\"u}nte, Thomas Frank},
  title={The effects of COMT (Val108/158Met) and DRD4 (SNP -521) dopamine genotypes on brain activations related to valence and magnitude of rewards},
  year={2010},
  pages={1985-1996},
  language={eng},
  issn={1047-3211},
  volume={20},
  number={8},
  journal={Cerebral cortex},
}
@article{UBHD-69354862,
  author={Danzi, Matt and Powell, Eric and Rebelo, Adriana P. and Dohrn, Maike F. and Beijer, Danique and Fazal, Sarah and Xu, Isaac R. L. and Medina, Jessica and Chen, Sitong and Arcia de Jesus, Yeisha and Schatzman, Jacquelyn and Hershberger, Ray E. and Saporta, Mario and Baets, Jonathan and Falk, Marni and Herrmann, David N. and Scherer, Steven S. and Reilly, Mary M. and Cortese, Andrea and Marques, Wilson and Cornejo-Olivas, Mario R. and Sanmaneechai, Oranee and Kennerson, Marina L. and Jordanova, Albena and Silva, Thiago Y. T. and Pedroso, Jose Luiz and Schierbaum, Luca and Ebrahimi-Fakhari, Darius and Peric, Stojan and Lee, Yi-Chung and Synofzik, Matthis and Tekin, Mustafa and Ravenscroft, Gianina and Shy, Mike and Basak, Nazli and Sch{\"u}le-Freyer, Rebecca and Zuchner, Stephan},
  title={The GENESIS database and tools},
  subtitle={A decade of discovery in Mendelian genomics},
  year={2024},
  pages={1-12},
  language={eng},
  issn={1090-2430},
  volume={382(2024) vom: Dez.},
  number={Artikel-ID 114978},
  note={Gesehen am 10.06.2025},
  journal={Experimental neurology},
  doi={10.1016/j.expneurol.2024.114978},
}
@article{UBHD-69052272,
  author={Dufke, Claudia and Schlipf, Nina Ariane and Sch{\"u}le-Freyer, Rebecca and Bonin, Michael and Auer-Grumbach, Michaela and Stevanin, Giovanni and Depienne, Christel and Kassubek, Jan and Klebe, Stephan and Klimpe, Sven and Klopstock, Thomas and Otto, Susanne and Poths, Sven and Seibel, Andrea and Stolze, Henning and Gal, Andreas and Sch{\"o}ls, Ludger and Bauer, Peter},
  title={A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes},
  year={2012},
  pages={215-227},
  language={eng},
  issn={1364-6745},
  volume={13},
  number={3 vom: Aug.},
  journal={Neurogenetics},
}
@article{UBHD-69227289,
  author={Graessner, Holm and Reinhard, Carola and B{\"a}umer, Tobias and Baumg{\"a}rtner, Annette and Brockmann, Knut and Br{\"u}ggemann, Norbert and B{\"u}ltmann, Eva and Erdmann, Jeanette and Heise, Kirstin and H{\"o}glinger, G{\"u}nter and H{\"u}ning, Irina and Kaiser, Frank J. and Klein, Christine and Klopstock, Thomas and Kr{\"a}geloh-Mann, Ingeborg and Kraemer, Markus and Luedtke, Kerstin and M{\"u}cke, Martin and Musacchio, Thomas and Nadke, Andreas and Osmanovic, Alma and Ritter, Gabriele and R{\"o}se, Katharina and Schippers, Christopher and Sch{\"o}ls, Ludger and Sch{\"u}le-Freyer, Rebecca and Schulz, J{\"o}rg B. and Sproß, Joachim and Stasch, Eveline and Wunderlich, Gilbert and M{\"u}nchau, Alexander},
  title={Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases},
  year={2024},
  pages={1-9},
  language={eng},
  issn={1750-1172},
  volume={19},
  number={Artikel-ID 62},
  note={Gesehen am 28.06.2024},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-024-03023-1},
}
@article{UBHD-69344861,
  author={Hamdan, Alzahra and Hendrickx, Niels and Hooker, Andrew C. and Chen, Xiaomei and Comets, Emmanuelle and Trasch{\"u}tz, Andreas and Sch{\"u}le-Freyer, Rebecca and Mentré, France and Synofzik, Matthis and Karlsson, Mats O.},
  title={Longitudinal analysis of natural history progression of rare and ultra-rare cerebellar ataxias using item response theory},
  year={2024},
  pages={1593-1605},
  language={eng},
  issn={1532-6535},
  volume={116},
  number={6 vom: Dez.},
  note={Gesehen am 14.05.2025},
  journal={Clinical pharmacology & therapeutics},
  doi={10.1002/cpt.3466},
}
@article{UBHD-69278603,
  author={Ibrahim, Alzhraa A. and Ollenschl{\"a}ger, Malte and Klebe, Stephan and Sch{\"u}le-Freyer, Rebecca and Jeschonneck, Nicole and Kellner, Melanie and Loris, Evelyn and Greinwalder, Teresa and Eskofier, Bjoern M. and Winkler, J{\"u}rgen and Gaßner, Heiko and Regensburger, Martin},
  title={Mobile digital gait analysis captures effects of botulinum toxin in hereditary spastic paraplegia},
  year={2024},
  pages={1-10},
  language={eng},
  issn={1468-1331},
  volume={31},
  note={Gesehen am 02.12.2024},
  journal={European journal of neurology},
  doi={10.1111/ene.16367},
}
@article{UBHD-69052258,
  author={Kr{\"a}mer, Ulrike M. and Cunillera, Toni and Càmara, Estela and Marco-Pallarés, Josep and Cucurell, David and Nager, Wido and Bauer, Peter and Sch{\"u}le-Freyer, Rebecca and Sch{\"o}ls, Ludger and Rodriguez-Fornells, Antoni and M{\"u}nte, Thomas Frank},
  title={The impact of catechol-O-methyltransferase and dopamine D4 receptor genotypes on neurophysiological markers of performance monitoring},
  year={2007},
  pages={14190-14198},
  language={eng},
  issn={0270-6474},
  volume={27},
  number={51},
  journal={The journal of neuroscience},
}
@article{UBHD-69052269,
  author={Kruse, Sylvia and Gorny, Xenia and Marco-Pallarés, Josep and Kr{\"a}mer, Ulrike M. and Wesenberg, Judith and Barman, Adriana and Bernstein, Hans-Gert and Sch{\"u}le-Freyer, Rebecca and Sch{\"o}ls, Ludger and Rodriguez-Fornells, Antoni and Reißner, Carsten and W{\"u}stenberg, Torsten and Heinze, Hans-Jochen and Gundelfinger, Eckart D. and D{\"u}zel, Emrah and M{\"u}nte, Thomas Frank and Seidenbecher, Constanze and Schott, Bj{\"o}rn H.},
  title={A potential role for a genetic variation of AKAP5 in human aggression and anger control},
  year={2011},
  pages={1-22},
  language={eng},
  issn={1662-5161},
  volume={5},
  number={Artikel-ID 175},
  journal={Frontiers in human neuroscience},
  doi={10.3389/fnhum.2011.00175},
}
@article{UBHD-69192024,
  author={Malina, Jekaterina and Huessler, Eva-Maria and J{\"o}ckel, Karl-Heinz and Boog-Whiteside, Eva and Jeschonneck, Nicole and Schr{\"o}der, Bernadette and Sch{\"u}le-Freyer, Rebecca and K{\"u}hl, Tobias Hans-J{\"u}rgen and Klebe, Stephan},
  title={Development and validation of TreatHSP-QoL},
  subtitle={a patient-reported outcome measure for health-related quality of life in hereditary spastic paraplegia},
  year={2024},
  pages={1-14},
  language={eng},
  issn={1750-1172},
  volume={19},
  number={Artikel-ID 2},
  note={Gesehen am 14.03.2024},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-023-03012-w},
}
@article{UBHD-69273917,
  author={Manibarathi, Kalaivani and Pham, Tam and Hengel, Holger and Synofzik, Matthis and Nagel, Maike and Sch{\"u}le-Freyer, Rebecca},
  title={An iPSC model for POLR3A-associated spastic ataxia},
  subtitle={generation of three unrelated patient cell lines},
  year={2024},
  pages={103363-1-103363-5},
  language={eng},
  issn={1876-7753},
  volume={76},
  number={Artikel-ID 103363},
  note={Gesehen am 15.11.2024},
  journal={Stem cell research},
  doi={10.1016/j.scr.2024.103363},
}
@article{UBHD-69052260,
  author={Marco-Pallarés, Josep and Cucurell, David and Cunillera, Toni and Kr{\"a}mer, Ulrike M. and Càmara, Estela and Nager, Wido and Bauer, Peter and Sch{\"u}le-Freyer, Rebecca and Sch{\"o}ls, Ludger and M{\"u}nte, Thomas Frank and Rodriguez-Fornells, Antoni},
  title={Genetic variability in the dopamine system (dopamine receptor D4, catechol-O-methyltransferase) modulates neurophysiological responses to gains and losses},
  year={2009},
  pages={154-161},
  language={eng},
  issn={0006-3223},
  volume={66},
  number={2},
  journal={Biological psychiatry},
}
@article{UBHD-69162545,
  author={Nagel, Maike and Noß, Marvin and Xu, Jishu and Horn, Nicola and Ueffing, Marius and Boldt, Karsten and Sch{\"u}le-Freyer, Rebecca},
  title={The kinesin motor KIF1C is a putative transporter of the exon junction complex in neuronal cells},
  year={2023},
  pages={55-68},
  language={eng},
  issn={1469-9001},
  volume={29},
  number={1},
  note={Online ver{\"o}ffentlicht October 31, 2022 ; Gesehen am 17.01.2024},
  journal={RNA},
  doi={10.1261/rna.079426.122},
}
@article{UBHD-69195260,
  author={Saffari, Afshin and Kellner, Melanie and Jordan, Catherine and Rosengarten, Helena and Mo, Alisa and Zhang, Bo and Strelko, Oleksandr and Neuser, Sonja Anna and Davis, Marie Y and Yoshikura, Nobuaki and Futamura, Naonobu and Takeuchi, Tomoya and Nabatame, Shin and Ishiura, Hiroyuki and Tsuji, Shoji and Aldeen, Huda Shujaa and Cali, Elisa and Rocca, Clarissa and Houlden, Henry and Efthymiou, Stephanie and Assmann, Birgit and Yoon, Grace and Trombetta, Bianca A and Kivis{\"a}kk, Pia and Eichler, Florian and Nan, Haitian and Takiyama, Yoshihisa and Tessa, Alessandra and Santorelli, Filippo M and Sahin, Mustafa and Blackstone, Craig and Yang, Edward and Sch{\"u}le-Freyer, Rebecca and Ebrahimi-Fakhari, Darius},
  title={The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia},
  subtitle={SPG15},
  year={2023},
  pages={2003-2015},
  language={eng},
  issn={1460-2156},
  volume={146},
  number={5 vom: Mai},
  note={Online verf{\"u}gbar: 31. Oktober 2022, Artikelversion: 21. Januar 2023 ; Gesehen am 26.03.2024},
  journal={Brain},
  doi={10.1093/brain/awac391},
}
@article{UBHD-69279409,
  author={Scaravilli, Alessandra and Negroni, Davide and Senatore, Claudio and Ugga, Lorenzo and Cosottini, Mirco and Ricca, Ivana and Bender, Benjamin and Trasch{\"u}tz, Andreas and Başak, Ayşe Nazli and Vural, Atay and van de Warrenburg, Bart P. and Durr, Alexandra and La Piana, Roberta and Timmann, Dagmar and Consortium, Prospax and Sch{\"u}le-Freyer, Rebecca and Synofzik, Matthis and Santorelli, Filippo Maria and Cocozza, Sirio},
  title={MRI-ARSACS},
  subtitle={an imaging index for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) identification based on the multicenter PROSPAX study},
  year={2024},
  pages={1343-1351},
  language={eng},
  issn={1531-8257},
  volume={39},
  number={8 vom: Aug.},
  note={Gesehen am 02.12.2024},
  journal={Movement disorders},
  doi={10.1002/mds.29871},
}
@article{UBHD-69278086,
  author={Scaravilli, Alessandra and Gabusi, Ilaria and Mari, Gaia and Battocchio, Matteo and Bosticardo, Sara and Schiavi, Simona and Bender, Benjamin and Kessler, Christoph and Brais, Bernard and La Piana, Roberta and van de Warrenburg, Bart P. and Cosottini, Mirco and Timmann, Dagmar and Daducci, Alessandro and Sch{\"u}le-Freyer, Rebecca and Synofzik, Matthis and Santorelli, Filippo Maria and Cocozza, Sirio},
  title={An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia},
  subtitle={results from the multi-center PROSPAX study},
  year={2024},
  pages={5468-5477},
  language={eng},
  issn={1432-1459},
  volume={271},
  number={8},
  note={Gesehen am 29.11.2024},
  journal={Journal of neurology},
  doi={10.1007/s00415-024-12505-y},
}
@article{UBHD-69330125,
  author={Sch{\"u}le-Freyer, Rebecca and Synofzik, Matthis and Graessner, Holm and Aartsma-Rus, Annemieke},
  title={Advancing ASO therapies from development to implementation},
  year={2024},
  pages={2725-2726},
  language={eng},
  issn={1546-170X},
  volume={30},
  number={10},
  note={Gesehen am 10.04.2025},
  journal={Nature medicine},
  doi={10.1038/s41591-024-03217-x},
}
@article{UBHD-69052277,
  author={Sch{\"u}le-Freyer, Rebecca and Wiethoff, Sarah and Martus, Peter and Karle, Kathrin Nora and Otto, Susanne and Klebe, Stephan and Klimpe, Sven and Gallenm{\"u}ller, Constanze and Kurzwelly, Delia and Henkel, Dorothea and Rimmele, Florian D. and Stolze, Henning Wolfgang and Kohl, Zacharias and Kassubek, Jan Rainer and Klockgether, Thomas and Vielhaber, Stefan and Kamm, Christoph and Klopstock, Thomas and Bauer, Peter and Z{\"u}chner, Stephan and Liepelt-Scarfone, Inga and Sch{\"o}ls, Ludger},
  title={Hereditary spastic paraplegia},
  subtitle={Clinicogenetic lessons from 608 patients},
  year={2016},
  pages={646-658},
  language={eng},
  issn={0364-5134},
  volume={79},
  number={4},
  journal={Annals of neurology},
}
@article{UBHD-69052278,
  author={Sch{\"u}le-Freyer, Rebecca and Wiethoff, Sarah and Martus, Peter and Karle, Kathrin Nora and Otto, Susanne and Klebe, Stephan and Klimpe, Sven and Gallenm{\"u}ller, Constanze and Kurzwelly, Delia and Henkel, Dorothea and Rimmele, Florian D. and Stolze, Henning Wolfgang and Kohl, Zacharias and Kassubek, Jan Rainer and Klockgether, Thomas and Vielhaber, Stefan and Kamm, Christoph and Klopstock, Thomas and Bauer, Peter and Z{\"u}chner, Stephan and Liepelt-Scarfone, Inga and Sch{\"o}ls, Ludger},
  title={Hereditary spastic paraplegia},
  subtitle={Clinicogenetic lessons from 608 patients},
  year={2016},
  pages={646-658},
  language={eng},
  issn={1531-8249},
  volume={79},
  number={4},
  journal={Annals of neurology},
  doi={10.1002/ana.24611},
}
@book{UBHD-69052319,
  author={Sch{\"u}le-Freyer, Rebecca},
  organization={Eberhard Karls Universit{\"a}t T{\"u}bingen},
  title={Klinik, Genetik und Pathophysiologie Heredit{\"a}rer Spastischer Spinalparalysen},
  address={T{\"u}bingen},
  year={2017},
  pages={111 Seiten},
  language={ger},
  note={Enth{\"a}lt Sonderabdrucke},
  school={Habilitationsschrift,  Eberhard Karls Universit{\"a}t T{\"u}bingen,  2017},
}
@article{UBHD-68242680,
  author={Sch{\"u}le-Freyer, Rebecca and Dictus, Christine and Campos, Benito and Wan, Feng and Ahmadi, Rezvan and Centner, Franz-Simon and Grabe, Niels and Lorenzo Bermejo, Justo and Unterberg, Andreas and Herold-Mende, Christel},
  title={Potential canonical wnt pathway activation in high-grade astrocytomas},
  year={2012},
  pages={1-11},
  language={eng},
  issn={1537-744X},
  number={Artikel-ID 697313},
  note={Gesehen am 13.04.2018},
  journal={The ScientificWorld journal},
  doi={10.1100/2012/697313},
}
@book{UBHD-66672513,
  author={Sch{\"u}le-Freyer, Rebecca},
  title={Wnt-Aktivierung in Glioblastomen},
  year={2009},
  pages={69 S.},
  language={ger},
  school={Heidelberg, Univ., Diss., 2009},
  library={UB [Signatur: 2009 U 314]},
}
@article{UBHD-69052350,
  author={Trasch{\"u}tz, Andreas and Reich, Selina and Adarmes, Astrid D. and Anheim, Mathieu and Ashrafi, Mahmoud Reza and Baets, Jonathan and Basak, A. Nazli and Bertini, Enrico and Brais, Bernard and Gagnon, Cynthia and Gburek-Augustat, Janina and Hanagasi, Hasmet A. and Heinzmann, Anna Constanze and Horvath, Rita and Jonghe, Peter de and Kamm, Christoph and Klivenyi, Peter and Klopstock, Thomas and Minnerop, Martina and M{\"u}nchau, Alexander and Renaud, Mathilde and Roxburgh, Richard H. and Santorelli, Filippo M. and Schirinzi, Tommaso and Sival, Deborah A. and Timmann-Braun, Dagmar and Vielhaber, Stefan and Wallner, Michael and Warrenburg, Bart Petrus Christoffel van de and Zanni, Ginevra and Z{\"u}chner, Stephan and Klockgether, Thomas and Sch{\"u}le-Freyer, Rebecca and Sch{\"o}ls, Ludger and Synofzik, Matthis},
  title={The ARCA Registry},
  subtitle={a collaborative global platform for advancing trial readiness in autosomal recessive cerebellar ataxias},
  year={2021},
  pages={1-10},
  language={eng},
  issn={1664-2295},
  volume={12},
  number={Artikel-ID 677551},
  journal={Frontiers in neurology},
  doi={10.3389/fneur.2021.677551},
}
@article{UBHD-69344812,
  author={Tunca, Ceren and İşlek Camadan, Eyl{\"u}l Ece and Smolina, Natalia and Palvadeau, Robin J. and {\"O}ztop Çakmak, {\"O}zg{\"u}r and Vural, Atay and Trasch{\"u}tz, Andreas and Santorelli, Filippo M. and Brais, Bernard and Sch{\"u}le-Freyer, Rebecca and Synofzik, Matthis and Başak, A. Nazlı},
  title={Sacsin levels in PBMCs},
  subtitle={a diagnostic assay for SACS variants in peripheral blood cells : a PROSPAX study},
  year={2024},
  pages={2291-2297},
  language={eng},
  issn={1531-8257},
  volume={39},
  number={12},
  note={Gesehen am 14.05.2025},
  journal={Movement disorders},
  doi={10.1002/mds.30012},
}
@article{UBHD-68935249,
  author={Wilke, Carlo and Mengel, David and Sch{\"o}ls, Ludger and Hengel, Holger and Rakowicz, Maria and Klockgether, Thomas and Durr, Alexandra and Filla, Alessandro and Melegh, Bela and Sch{\"u}le-Freyer, Rebecca and Reetz, Kathrin and Jacobi, Heike and Synofzik, Matthis},
  title={Levels of neurofilament light at the preataxic and ataxic stages of spinocerebellar ataxia type 1},
  year={2022},
  pages={e1985-e1996},
  language={eng},
  issn={1526-632X},
  volume={98},
  number={20},
  note={Gesehen am 28.06.2022},
  journal={Neurology},
  doi={10.1212/WNL.0000000000200257},
}
@article{UBHD-69052343,
  author={Zimmermann, Milan Raoul and Schuster, Stefanie and Boesch, Sylvia and Korenke, Christoph and Mohr, Julia and Reichbauer, Jennifer and Kernstock, Christoph and Kotzot, Dieter and Spahlinger, Veronika and Sch{\"u}le-Freyer, Rebecca and Sch{\"o}ls, Ludger},
  title={FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome},
  year={2020},
  pages={6-11},
  language={eng},
  issn={1873-5126},
  volume={74},
  journal={Parkinsonism & related disorders},
  doi={10.1016/j.parkreldis.2020.03.021},
}