Erratum: Hypomorphic mutations in Polr3a are a frequent cause of sporadic and recessive spastic ataxia (Brain (2017) 140 (1561-1578) DOI: 10.1093/brain/awx095);Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

Brain

Volumn 140, Issue 6, 2017, Pages 1561-1578

  Minnerop, Martina ^a,b   Kurzwelly, Delia ^b,c   Wagner, Holger ^b   Soehn, Anne S ^d   Reichbauer, Jennifer ^c,e   Tao, Feifei ^f   Rattay, Tim W ^c,e   Peitz, Michael ^c,g   Rehbach, Kristina ^c,g   Giorgetti, Alejandro ^a,h   Pyle, Angela ⁱ   Thiele, Holger ^j   Altmüller, Janine ^j,k   Timmann, Dagmar ^l   Karaca, Ilker ^b   Lennarz, Martina ^b   Baets, Jonathan ^m,n,o   Hengel, Holger ^c,e   Synofzik, Matthis ^c,e   Atasu, Burcu ^c,e   Feely, Shawna ^p   Kennerson, Marina ^q,r,s   Stendel, Claudia ^c,t   Lindig, Tobias ^u   Gonzalez, Michael A ^f   Stirnberg, Rudiger ^c   Sturm, Marc ^d   Roeske, Sandra ^c   Jung, Johanna ^c   Bauer, Peter ^d   Lohmann, Ebba ^c,n,v   Herms, Stefan ^b,w   Heilmann Heimbach, Stefanie ^b   Nicholson, Garth ^q,r,s   Mahanjah, Muhammad ^x,y   Sharkia, Rajech ^z,aa   Carloni, Paolo ^a   Brüstle, Oliver ^c,g   Klopstock, Thomas ^c,t,ab   Mathews, Katherine D ^p   Shy, Michael E ^p   De Jonghe, Peter ^m,n,o   Chinnery, Patrick F ^i,ac   Horvath, Rita ⁱ   Kohlhase, Jürgen ^ad   Schmitt, Ina ^b   Wolf, Michael ^b   Greschus, Susanne ^b   Amunts, Katrin ^a,ae   Maier, Wolfgang ^b,c   Schöls, Ludger ^c,e   Nürnberg, Peter ^j,af   Zuchner, Stephan ^f   Klockgether, Thomas ^b,c   Ramirez, Alfredo ^b,af   Schüle, Rebecca ^c,e,f   more..

^a FORSCHUNGSZENTRUM JÜLICH   (Germany)

^b UNIVERSITY OF BONN   (Germany)

^c GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^d UNIVERSITY OF TÜBINGEN   (Germany)

^e UNIVERSITY OF TÜBINGEN   (Germany)

^f UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^g Life and Brain Center   (Germany)

^h UNIVERSITY OF VERONA   (Italy)

ⁱ NEWCASTLE UNIVERSITY   (United Kingdom)

^j UNIVERSITY OF COLOGNE   (Germany)

^k UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^l UNIVERSITY OF DUISBURG ESSEN   (Germany)

^m DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

ⁿ ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^o UNIVERSITY OF ANTWERP   (Belgium)

^p UNIVERSITY OF IOWA   (United States)

^q ANZAC RESEARCH INSTITUTE   (Australia)

^r Department of Microbiology and Infectious Diseases   (Australia)

^s UNIVERSITY OF SYDNEY   (Australia)

^t LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^u UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^v ISTANBUL UNIVERSITY   (Turkey)

^w UNIVERSITY HOSPITAL BASEL   (Switzerland)

^x HILLEL YAFFE MEDICAL CENTER   (Israel)

^y TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^z Triangle Research and Development Center   (Israel)

^aa BEIT BERL COLLEGE   (Israel)

^ab Germany 3 Munich Cluster for Systems Neurology   (Germany)

^ac UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^ad UNIVERSITY OF FREIBURG   (Germany)

^ae HEINRICH HEINE UNIVERSITY   (Germany)

^af UNIVERSITY OF COLOGNE   (Germany)

more..

Author keywords

Cerebellar ataxia; Hereditary spastic paraplegia; Leukodystrophy; POLR3A; Spastic ataxia

Indexed keywords

GENOMIC DNA; DNA DIRECTED RNA POLYMERASE III; POLR3A PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CEREBELLAR ATAXIA; CHILD; CLINICAL ARTICLE; DEMYELINATION; FEMALE; GENE; GENE MUTATION; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; HUMAN CELL; LEUKODYSTROPHY; LINKAGE ANALYSIS; MALE; MIDDLE AGED; MOLECULAR PATHOLOGY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPE; POLR3A GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SPLICING; SANGER SEQUENCING; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SUPERIOR CEREBELLAR PEDUNCLE; TREMOR; WHOLE EXOME SEQUENCING; YOUNG ADULT; AGED; CELL CULTURE TECHNIQUE; DIAGNOSTIC IMAGING; EXON; GENETIC ASSOCIATION STUDY; GENETICS; INDUCED PLURIPOTENT STEM CELL; INTELLECTUAL IMPAIRMENT; INTRON; MUTATION; OPTIC NERVE ATROPHY; PATHOPHYSIOLOGY; PEDIGREE; SPASTICITY; SPINOCEREBELLAR DEGENERATION;

AGED; CELL CULTURE TECHNIQUES; EXONS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INDUCED PLURIPOTENT STEM CELLS; INTELLECTUAL DISABILITY; INTRONS; MALE; MIDDLE AGED; MUSCLE SPASTICITY; MUTATION; OPTIC ATROPHY; PEDIGREE; PHENOTYPE; RNA POLYMERASE III; SPASTIC PARAPLEGIA, HEREDITARY; SPINOCEREBELLAR ATAXIAS;

EID: 85021954603     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awx329     Document Type: Erratum

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