Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis
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| Veröffentlicht in: | Brain (London, England : 1878) England : 1878), 2019-04, Vol.142 (4), p.e12-e12 |
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| container_issue | 4 |
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| container_title | Brain (London, England : 1878) |
| container_volume | 142 |
| creator | Rydning, Siri L Koht, Jeanette Sheng, Ying Sowa, Piotr Hjorthaug, Hanne S Wedding, Iselin M Erichsen, Anne Kjersti Hovden, Inger Anette Backe, Paul H Tallaksen, Chantal M E Vigeland, Magnus D Selmer, Kaja K |
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| doi_str_mv | 10.1093/brain/awz041 |
| format | Article |
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Koht, Jeanette ; Sheng, Ying ; Sowa, Piotr ; Hjorthaug, Hanne S ; Wedding, Iselin M ; Erichsen, Anne Kjersti ; Hovden, Inger Anette ; Backe, Paul H ; Tallaksen, Chantal M E ; Vigeland, Magnus D ; Selmer, Kaja K</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c482t-f29df59eae483bea0eae15b8e40ce3f2536abe8c75a92718c4d0f5a28d7669f83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Humans</topic><topic>Intellectual Disability</topic><topic>Letters to the Editor</topic><topic>Muscle Spasticity</topic><topic>Mutation</topic><topic>Optic Atrophy</topic><topic>Paraparesis, Spastic</topic><topic>RNA Polymerase III - genetics</topic><topic>Spinocerebellar Ataxias</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Rydning, Siri L</creatorcontrib><creatorcontrib>Koht, Jeanette</creatorcontrib><creatorcontrib>Sheng, Ying</creatorcontrib><creatorcontrib>Sowa, Piotr</creatorcontrib><creatorcontrib>Hjorthaug, Hanne S</creatorcontrib><creatorcontrib>Wedding, Iselin M</creatorcontrib><creatorcontrib>Erichsen, Anne Kjersti</creatorcontrib><creatorcontrib>Hovden, Inger Anette</creatorcontrib><creatorcontrib>Backe, Paul H</creatorcontrib><creatorcontrib>Tallaksen, Chantal M E</creatorcontrib><creatorcontrib>Vigeland, Magnus D</creatorcontrib><creatorcontrib>Selmer, Kaja K</creatorcontrib><collection>Oxford Journals Open Access Collection</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Brain (London, England : 1878)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Rydning, Siri L</au><au>Koht, Jeanette</au><au>Sheng, Ying</au><au>Sowa, Piotr</au><au>Hjorthaug, Hanne S</au><au>Wedding, Iselin M</au><au>Erichsen, Anne Kjersti</au><au>Hovden, Inger Anette</au><au>Backe, Paul H</au><au>Tallaksen, Chantal M E</au><au>Vigeland, Magnus D</au><au>Selmer, Kaja K</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis</atitle><jtitle>Brain (London, England : 1878)</jtitle><addtitle>Brain</addtitle><date>2019-04-01</date><risdate>2019</risdate><volume>142</volume><issue>4</issue><spage>e12</spage><epage>e12</epage><pages>e12-e12</pages><issn>0006-8950</issn><eissn>1460-2156</eissn><cop>England</cop><pub>Oxford University Press</pub><pmid>30847471</pmid><doi>10.1093/brain/awz041</doi><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0006-8950 |
| ispartof | Brain (London, England : 1878), 2019-04, Vol.142 (4), p.e12-e12 |
| issn | 0006-8950 1460-2156 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6439323 |
| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Oxford University Press Journals All Titles (1996-Current); Alma/SFX Local Collection |
| subjects | Humans Intellectual Disability Letters to the Editor Muscle Spasticity Mutation Optic Atrophy Paraparesis, Spastic RNA Polymerase III - genetics Spinocerebellar Ataxias |
| title | Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis |
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