Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects
dc.contributor.author | Seong, Eunju | |
dc.contributor.author | Insolera, Ryan | |
dc.contributor.author | Dulovic, Marija | |
dc.contributor.author | Kamsteeg, Erik‐jan | |
dc.contributor.author | Trinh, Joanne | |
dc.contributor.author | Brüggemann, Norbert | |
dc.contributor.author | Sandford, Erin | |
dc.contributor.author | Li, Sheng | |
dc.contributor.author | Ozel, Ayse Bilge | |
dc.contributor.author | Li, Jun Z. | |
dc.contributor.author | Jewett, Tamison | |
dc.contributor.author | Kievit, Anneke J. A. | |
dc.contributor.author | Münchau, Alexander | |
dc.contributor.author | Shakkottai, Vikram | |
dc.contributor.author | Klein, Christine | |
dc.contributor.author | Collins, Catherine A. | |
dc.contributor.author | Lohmann, Katja | |
dc.contributor.author | Warrenburg, Bart P. | |
dc.contributor.author | Burmeister, Margit | |
dc.date.accessioned | 2018-08-13T18:50:56Z | |
dc.date.available | 2019-08-01T19:53:23Z | en |
dc.date.issued | 2018-06 | |
dc.identifier.citation | Seong, Eunju; Insolera, Ryan; Dulovic, Marija; Kamsteeg, Erik‐jan ; Trinh, Joanne; Brüggemann, Norbert ; Sandford, Erin; Li, Sheng; Ozel, Ayse Bilge; Li, Jun Z.; Jewett, Tamison; Kievit, Anneke J. A.; Münchau, Alexander ; Shakkottai, Vikram; Klein, Christine; Collins, Catherine A.; Lohmann, Katja; Warrenburg, Bart P.; Burmeister, Margit (2018). "Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects." Annals of Neurology 83(6): 1075-1088. | |
dc.identifier.issn | 0364-5134 | |
dc.identifier.issn | 1531-8249 | |
dc.identifier.uri | https://hdl.handle.net/2027.42/145306 | |
dc.publisher | Wiley Periodicals, Inc. | |
dc.title | Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects | |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | |
dc.subject.hlbsecondlevel | Psychiatry | |
dc.subject.hlbtoplevel | Health Sciences | |
dc.description.peerreviewed | Peer Reviewed | |
dc.description.bitstreamurl | https://deepblue.lib.umich.edu/bitstream/2027.42/145306/1/ana25220_am.pdf | |
dc.description.bitstreamurl | https://deepblue.lib.umich.edu/bitstream/2027.42/145306/2/ana25220.pdf | |
dc.identifier.doi | 10.1002/ana.25220 | |
dc.identifier.source | Annals of Neurology | |
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dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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