Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

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Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

Author: Minnerop, Martina; Kurzwelly, Delia; Wagner, Holger; Soehn, Anne S.; Reichbauer, Jennifer; Tao, Feifei; Rattay, Tim W.; Peitz, Michael; Rehbach, Kristina; Giorgetti, Alejandro; Pyle, Angela; Thiele, Holger; Altmueller, Janine; Timmann, Dagmar; Karaca, Ilker; Lennarz, Martina; Baets, Jonathan; Hengel, Holger; Synofzik, Matthis; Atasu, Burcu; Feely, Shawna; Kennerson, Marina; Stendel, Claudia; Lindig, Tobias; Gonzalez, Michael A.; Stirnberg, Ruediger; Sturm, Marc; Roeske, Sandra; Jung, Johanna; Bauer, Peter; Lohmann, Ebba; Herms, Stefan; Heilmann-Heimbach, Stefanie; Nicholson, Garth; Mahanjah, Muhammad; Sharkia, Rajech; Carloni, Paolo; Bruestle, Oliver; Klopstock, Thomas; Mathews, Katherine D.; Shy, Michael E.; de Jonghe, Peter; Chinnery, Patrick F.; Horvath, Rita; Kohlhase, Juergen; Schmitt, Ina; Wolf, Michael; Greschus, Susanne; Amunts, Katrin; Maier, Wolfgang; Schoels, Ludger; Nuernberg, Peter; Zuchner, Stephan; Klockgether, Thomas; Ramirez, Alfredo; Schuele, Rebecca
Tübinger Autor(en):
Reichbauer, Jennifer
Hengel, Holger
Atasu, Burcu
Lindig, Tobias
Sturm, Marc
Bauer, Peter
Lohmann, Ebba
Söhn, Anne
Rattay, Tim Wilfried
Synofzik, Matthis Benjamin
Schöls, Ludger
Schüle-Freyer, Rebecca
Published in: Brain (2017), Bd. 140, S. 1561-1578
Verlagsangabe: Oxford Univ Press
Language: English
Full text: http://dx.doi.org/10.1093/brain/awx095
ISSN: 1460-2156
DDC Classifikation: 610 - Medicine and health
570 - Life sciences; biology
Dokumentart: Artikel
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