Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing

OBJECTIVE: Our study investigated the presence of regional differences in hexanucleotide repeat number in postmortem brain tissues of 2 patients with X-linked dystonia-parkinsonism (XDP), a combined dystonia-parkinsonism syndrome modified by a (CCCTCT)(n) repeat within the causal SINE-VNTR-Alu retro...

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Vydáno v:Neurol Genet
Hlavní autoři: Reyes, Charles Jourdan, Laabs, Björn-Hergen, Schaake, Susen, Lüth, Theresa, Ardicoglu, Raphaela, Rakovic, Aleksandar, Grütz, Karen, Alvarez-Fischer, Daniel, Jamora, Roland Dominic, Rosales, Raymond L., Weyers, Imke, König, Inke R., Brüggemann, Norbert, Klein, Christine, Dobricic, Valerija, Westenberger, Ana, Trinh, Joanne
Médium: Artigo
Jazyk:Inglês
Vydáno: Wolters Kluwer 2021
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8265576/
https://ncbi.nlm.nih.gov/pubmed/34250228
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000608
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