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Browsing 8 Zentrale, interfakultäre und fakultätsübergreifende Einrichtungen by Author

Browsing 8 Zentrale, interfakultäre und fakultätsübergreifende Einrichtungen by Author "Deininger, Natalie"

Now showing items 1-4 of 4

Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease

Cordts, Isabell; Semmler, Luisa; Prasuhn, Jannik; Seibt, Annette; Herebian, Diran; Navaratnarajah, Tharsini; Park, Joohyun; Deininger, Natalie; Laugwitz, Lucia; Goericke, Sophia L.; Lingor, Paul; Brueggemann, Norbert; Muenchau, Alexander; Synofzik, Matthis; Timmann, Dagmar; Mayr, Johannes A.; Haack, Tobias B.; Distelmaier, Felix; Deschauer, Marcus (2022)
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

Park, Joohyun; Tucci, Arianna; Cipriani, Valentina; Demidov, German; Rocca, Clarissa; Senderek, Jan; Butryn, Michaela; Velic, Ana; Lam, Tanya; Galanaki, Evangelia; Cali, Elisa; Vestito, Letizia; Maroofian, Reza; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Hahn, Gesa-Astrid; Bartels, Claudius; van Os, Nienke J. H.; Horvath, Rita; Chinnery, Patrick F.; Tiet, May Yung; Hewamadduma, Channa; Hadjivassiliou, Marios; Tofaris, George K.; Wood, Nicholas W.; Hayer, Stefanie N.; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Huu Phuc Nguyen; Krauss, Joachim K.; Blahak, Christian; Strom, Tim M.; Sturm, Marc; van de Warrenburg, Bart; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Timmann, Dagmar; Wolf, Marc E.; Smedley, Damian; Riess, Olaf; Schoels, Ludger; Houlden, Henry; Haack, Tobias B.; Hengel, Holger (2022)
Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis

Zimmermann, Milan; Deininger, Natalie; Willikens, Sophia; Haack, Tobias B.; Grundmann-Hauser, Kathrin; Streubel, Berthold; Schreiber, Melanie; Lerche, Holger; Grimm, Alexander (2021)
The movement disorder spectrum of SCA21 (ATX-TMEM240) : 3 novel families and systematic review of the literature

Traschuetz, Andreas; van Gaalen, Judith; Oosterloo, Mayke; Vreeburg, Maaike; Kamsteeg, Erik-Jan; Deininger, Natalie; Riess, Olaf; Reimold, Matthias; Haack, Tobias; Schoels, Ludger; van de Warrenburg, Bart P.; Synofzik, Matthis (2019)

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