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Repeat expansions in leukoencephalopathy
dc.contributor.authorPaulson, Henry
dc.date.accessioned2020-01-13T15:05:10Z
dc.date.availableWITHHELD_12_MONTHS
dc.date.available2020-01-13T15:05:10Z
dc.date.issued2019-12
dc.identifier.citationPaulson, Henry (2019). "Repeat expansions in leukoencephalopathy." Annals of Neurology 86(6): 809-811.
dc.identifier.issn0364-5134
dc.identifier.issn1531-8249
dc.identifier.urihttps://hdl.handle.net/2027.42/152577
dc.publisherJohn Wiley & Sons, Inc.
dc.titleRepeat expansions in leukoencephalopathy
dc.typeArticle
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelPsychiatry
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/152577/1/ana25613.pdf
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/152577/2/ana25613_am.pdf
dc.identifier.doi10.1002/ana.25613
dc.identifier.sourceAnnals of Neurology
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dc.identifier.citedreferenceLynch DS, Wade C, Paiva ARB, et al. Practical approach to the diagnosis of adult‐onset leukodystrophies: an updated guide in the genomic era. J Neurol Neurosurg Psychiatry 2019; 90: 543 – 554.
dc.identifier.citedreferenceOkubo M, Doi H, Fukai R, et al. GGC repeat expansion of TCH2NLC in adult patients with leukoencephalopathy. Ann Neurol 2019;00:000–000.
dc.identifier.citedreferenceSone J, Mitsuhashi S, Fujita A, et al. Long‐read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. Nat Genet 2019; 51: 1215 – 1221.
dc.identifier.citedreferenceIshiura H, Shibata S, Yoshimura J, et al. Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. Nat Genet 2019; 51: 1222 – 1232.
dc.identifier.citedreferenceTian Y, Wang JL, Huang W, et al. Expansion of human‐specific GGC repeat in neuronal intranuclear inclusion disease‐related disorders. Am J Hum Genet 2019; 105: 166 – 176.
dc.identifier.citedreferenceDeng J, Gu M, Miao Y, et al. Long‐read sequencing identified repeat expansions in the 5’UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease. J Med Genet 2019; https://doi.org/10.1136/jmedgenet-2019-106268.
dc.identifier.citedreferenceSone J, Mori K, Inagaki T, et al. Clinicopathological features of adult‐onset neuronal intranuclear inclusion disease. Brain 2016; 139 ( pt 12 ): 3170 – 3186.
dc.identifier.citedreferenceDoi K, Monjo T, Hoang PH, et al. Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing. Bioinformatics 2014; 30: 815 – 822.
dc.identifier.citedreferencePaulson H. Repeat expansion diseases. Handb Clin Neurol 2018; 147: 105 – 123.
dc.identifier.citedreferenceKunii M, Doi H, Ishii Y, et al. Genetic analysis of adult leukoencephalopathy patients using a custom‐designed gene panel. Clin Genet 2018; 94: 232 – 238.
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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