Results 101 to 110 of about 10,792 (169)

Reply to: Double trouble progressive external ophthalmoplegia and Huntington's disease

Molecular Genetics and Metabolism Reports, 2016
Massimiliano Filosto, Filippo M. Santorelli   +1 more
doaj   +1 more source

Trinucleotide Repeat Expansion in the Transcription Factor 4 (TCF4) Gene Leads to Widespread mRNA Splicing Changes in Fuchs' Endothelial Corneal Dystrophy. [PDF]

Invest Ophthalmol Vis Sci, 2017
Wieben ED, Aleff RA, Tang X, Butz ML, Kalari KR, Highsmith EW, Jen J, Vasmatzis G, Patel SV, Maguire LJ, Baratz KH, Fautsch MP.   +11 more
europepmc   +1 more source

DNA base excision repair: a mechanism of trinucleotide repeat expansion. [PDF]

Trends Biochem Sci, 2012
Liu Y, Wilson SH.
europepmc   +1 more source

AP endonuclease 1 prevents trinucleotide repeat expansion via a novel mechanism during base excision repair. [PDF]

Nucleic Acids Res, 2015
Beaver JM, Lai Y, Xu M, Casin AH, Laverde EE, Liu Y.   +5 more
europepmc   +1 more source

Double trouble progressive external ophthalmoplegia and Huntington's disease

Molecular Genetics and Metabolism Reports, 2016
Josef Finsterer, Sinda Zarrouk-Mahjoub
doaj   +1 more source

MutSβ promotes trinucleotide repeat expansion by recruiting DNA polymerase β to nascent (CAG)n or (CTG)n hairpins for error-prone DNA synthesis. [PDF]

Cell Res, 2016
Guo J, Gu L, Leffak M, Li GM.
europepmc   +1 more source

Tissue-level heterogeneity in FECD: Descemet's membrane phenotypes and association with TCF4 CTG18.1 expansion^†. [PDF]

J Pathol
Maeno S, Oie Y, Kai C, Nishida K.
europepmc   +1 more source

CGG, CAG, and GAA: Genome-wide comparison of the disease linked trinucleotide short tandem repeats. [PDF]

BMC Genomics
Annear DJ, Vandeweyer G, Kooy RF.
europepmc   +1 more source

Subclinical peripheral nerve demyelination without overt symptoms in a family with neuronal intranuclear inclusion disease harboring biallelic repeat expansions. [PDF]

BMC Neurol
Zhang H, Zhao T, Zheng H, Duan S, Liu C, Zhang Y, Li Q, Liu H, Luo H, Xu Y.   +9 more
europepmc   +1 more source

Childhood-Onset Huntington's Disease-Like Presentation of SCA17 with Intermediate Repeats, A Case Report. [PDF]

Cerebellum
Berns M, Jensen K, Speltz L, Almeida LB.
europepmc   +1 more source