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

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

dc.contributor.author	Reichbauer, Jennifer
dc.contributor.author	Hengel, Holger
dc.contributor.author	Atasu, Burcu
dc.contributor.author	Lindig, Tobias
dc.contributor.author	Sturm, Marc
dc.contributor.author	Bauer, Peter
dc.contributor.author	Lohmann, Ebba
dc.contributor.author	Söhn, Anne
dc.contributor.author	Rattay, Tim Wilfried
dc.contributor.author	Synofzik, Matthis
dc.contributor.author	Schöls, Ludger
dc.contributor.author	Schüle-Freyer, Rebecca
dc.date.accessioned	2017-08-30T12:25:20Z
dc.date.available	2017-08-30T12:25:20Z
dc.date.issued	2017
dc.identifier.issn	1460-2156
dc.identifier.uri	http://hdl.handle.net/10900/77643
dc.language.iso	en	en
dc.publisher	Oxford Univ Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1093/brain/awx095	de_DE
dc.rights	info:eu-repo/semantics/closedAccess
dc.subject.ddc	610	de_DE
dc.subject.ddc	570	de_DE
dc.title	Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia	de_DE
dc.type	Article	de_DE
utue.quellen.id	20170815222223_00622
utue.publikation.seiten	1561-1578	de_DE
utue.personen.roh	Minnerop, Martina
utue.personen.roh	Kurzwelly, Delia
utue.personen.roh	Wagner, Holger
utue.personen.roh	Soehn, Anne S.
utue.personen.roh	Reichbauer, Jennifer
utue.personen.roh	Tao, Feifei
utue.personen.roh	Rattay, Tim W.
utue.personen.roh	Peitz, Michael
utue.personen.roh	Rehbach, Kristina
utue.personen.roh	Giorgetti, Alejandro
utue.personen.roh	Pyle, Angela
utue.personen.roh	Thiele, Holger
utue.personen.roh	Altmueller, Janine
utue.personen.roh	Timmann, Dagmar
utue.personen.roh	Karaca, Ilker
utue.personen.roh	Lennarz, Martina
utue.personen.roh	Baets, Jonathan
utue.personen.roh	Hengel, Holger
utue.personen.roh	Synofzik, Matthis
utue.personen.roh	Atasu, Burcu
utue.personen.roh	Feely, Shawna
utue.personen.roh	Kennerson, Marina
utue.personen.roh	Stendel, Claudia
utue.personen.roh	Lindig, Tobias
utue.personen.roh	Gonzalez, Michael A.
utue.personen.roh	Stirnberg, Ruediger
utue.personen.roh	Sturm, Marc
utue.personen.roh	Roeske, Sandra
utue.personen.roh	Jung, Johanna
utue.personen.roh	Bauer, Peter
utue.personen.roh	Lohmann, Ebba
utue.personen.roh	Herms, Stefan
utue.personen.roh	Heilmann-Heimbach, Stefanie
utue.personen.roh	Nicholson, Garth
utue.personen.roh	Mahanjah, Muhammad
utue.personen.roh	Sharkia, Rajech
utue.personen.roh	Carloni, Paolo
utue.personen.roh	Bruestle, Oliver
utue.personen.roh	Klopstock, Thomas
utue.personen.roh	Mathews, Katherine D.
utue.personen.roh	Shy, Michael E.
utue.personen.roh	de Jonghe, Peter
utue.personen.roh	Chinnery, Patrick F.
utue.personen.roh	Horvath, Rita
utue.personen.roh	Kohlhase, Juergen
utue.personen.roh	Schmitt, Ina
utue.personen.roh	Wolf, Michael
utue.personen.roh	Greschus, Susanne
utue.personen.roh	Amunts, Katrin
utue.personen.roh	Maier, Wolfgang
utue.personen.roh	Schoels, Ludger
utue.personen.roh	Nuernberg, Peter
utue.personen.roh	Zuchner, Stephan
utue.personen.roh	Klockgether, Thomas
utue.personen.roh	Ramirez, Alfredo
utue.personen.roh	Schuele, Rebecca
dcterms.isPartOf.ZSTitelID	Brain	de_DE
dcterms.isPartOf.ZS-Volume	140	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE