Schüle-Freyer, Rebecca Dr. med.; Prof.Universität HeidelbergHeidelberg
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Co-Autoren (Uni Heidelberg)
Co-Autoren (extern)
- Vielhaber, Stefan (3)
- Züchner, Stephan (3)
- Klebe, Stephan (3)
- Krämer, Ulrike M. (3)
- Marco-Pallarés, Josep (3)
- Cunillera, Toni (3)
- Cucurell, David (3)
- Traschütz, Andreas (3)
- Kassubek, Jan Rainer (2)
- Graessner, Holm (2)
- Kohl, Zacharias (2)
- Aartsma-Rus, Annemieke (2)
- Durr, Alexandra (2)
- Timmann, Dagmar (2)
- Gallenmüller, Constanze (2)
- Schöls, Ludger (2)
- Baets, Jonathan (2)
- Synofzik, Matthis (2)
- Liepelt-Scarfone, Inga (2)
- Nager, Wido (2)
- Santorelli, Filippo M. (2)
- Càmara, Estela (2)
- Brais, Bernard (2)
- Nagel, Maike (2)
- van de Warrenburg, Bart P. (2)
- Jeschonneck, Nicole (2)
- Bender, Benjamin (2)
- Scaravilli, Alessandra (2)
- Santorelli, Filippo Maria (2)
- La Piana, Roberta (2)
- Kessler, Christoph (2)
- Sproß, Joachim (1)
- Düzel, Emrah (1)
- (weitere Einträge vorhanden...)
Neueste Publikationen in heiBIB 
(ingesamt sind 27 Publikationen erfasst)
- Danzi, Matt: The GENESIS database and tools : A decade of discovery in Mendelian genomics / Matt C. Danzi, Eric Powell, Adriana P. Rebelo, Maike F. Dohrn, Danique Beijer, Sarah Fazal, Isaac R.… , 30 September 2024. - 12 S. : Illustrationen
In: Experimental neurology, ISSN 1090-2430. 382(2024) vom: Dez., Artikel-ID 114978, Seite 1-12
DOI: 10.1016/j.expneurol.2024.114978
- Hamdan, Alzahra: Longitudinal analysis of natural history progression of rare and ultra-rare cerebellar ataxias using item response theory / Alzahra Hamdan, Niels Hendrickx, Andrew C. Hooker, Xiaomei Chen, Emmanuelle Comets, Andreas Traschüt… , 15 October 2024. - 13 S. : Illustrationen
In: Clinical pharmacology & therapeutics, ISSN 1532-6535. 116(2024), 6 vom: Dez., Seite 1593-1605
DOI: 10.1002/cpt.3466
- Tunca, Ceren: Sacsin levels in PBMCs : a diagnostic assay for SACS variants in peripheral blood cells : a PROSPAX study / Ceren Tunca, Eylül Ece İşlek Camadan, Natalia Smolina, Robin J. Palvadeau, Özgür Öztop Çakmak, Atay … , [24 September 2024]. - 8 S.
In: Movement disorders, ISSN 1531-8257. 39(2024), 12, Seite 2291-2297
DOI: 10.1002/mds.30012
- Schüle-Freyer, Rebecca: Advancing ASO therapies from development to implementation / Rebecca Schuele, Matthis Synofzik, Holm Graessner & Annemieke Aartsma-Rus, 13 September 2024. - 2 S. : Illustrationen
In: Nature medicine, ISSN 1546-170X. 30(2024), 10, Seite 2725-2726
DOI: 10.1038/s41591-024-03217-x
- Scaravilli, Alessandra: MRI-ARSACS : an imaging index for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) identification based on the multicenter PROSPAX study / Alessandra Scaravilli, Davide Negroni, Claudio Senatore, Lorenzo Ugga, Mirco Cosottini, Ivana Ricca,… , 7 June 2024. - 9 S. : Illustrationen
In: Movement disorders, ISSN 1531-8257. 39(2024), 8 vom: Aug., Seite 1343-1351
DOI: 10.1002/mds.29871
- Ibrahim, Alzhraa A.: Mobile digital gait analysis captures effects of botulinum toxin in hereditary spastic paraplegia / Alzhraa A. Ibrahim, Malte Ollenschläger, Stephan Klebe, Rebecca Schüle, Nicole Jeschonneck, Melanie … , 10 June 2024. - 10 S. : Illustrationen
In: European journal of neurology, ISSN 1468-1331. 31(2024), 8 vom: Aug., Artikel-ID e16367, Seite 1-10
DOI: 10.1111/ene.16367
- Beichert, Lukas David: Digital gait outcomes for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) : discriminative, convergent, and ecological validity in a multicenter study (PROSPAX) / Lukas Beichert, Winfried Ilg, Christoph Kessler, Andreas Traschütz, Selina Reich, Filippo M. Santore… , 7 June 2024. - 12 S. : Illustrationen
In: Movement disorders, ISSN 1531-8257. 39(2024), 9 vom: Sept., Seite 1544-1555
DOI: 10.1002/mds.29876
- Scaravilli, Alessandra: An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia : results from the multi-center PROSPAX study / Alessandra Scaravilli, Ilaria Gabusi, Gaia Mari, Matteo Battocchio, Sara Bosticardo, Simona Schiavi,… , 16 June 2024. - 10 S. : Illustrationen
In: Journal of neurology, ISSN 1432-1459. 271(2024), 8, Seite 5468-5477
DOI: 10.1007/s00415-024-12505-y
- Manibarathi, Kalaivani: An iPSC model for POLR3A-associated spastic ataxia : generation of three unrelated patient cell lines / Kalaivani Manibarathi, Tam Pham, Holger Hengel, Matthis Synofzik, Maike Nagel, Rebecca Schüle, 25 February 2024. - 5 S.
In: Stem cell research, ISSN 1876-7753. 76(2024), Artikel-ID 103363, Seite 103363-1-103363-5
DOI: 10.1016/j.scr.2024.103363
- Graessner, Holm: Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases / Holm Graessner, Carola Reinhard, Tobias Bäumer, Annette Baumgärtner, Knut Brockmann, Norbert Brüggem… , 13 February 2024. - 9 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 19(2024), Artikel-ID 62, Seite 1-9
DOI: 10.1186/s13023-024-03023-1
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