Results 131 to 140 of about 17,057 (211)

Base editing of trinucleotide repeats that cause Huntington's disease and Friedreich's ataxia reduces somatic repeat expansions in patient cells and in mice. [PDF]

open access: yesNat Genet
Matuszek Z   +20 more
europepmc   +1 more source

Trinucleotide repeats and neuropsychiatric phenotypes [Elektronisk resurs]

open access: yes, 2001
Genetic studies of affective disorders have yielded several chromosomal regions suggestive for linkage. Linkage analysis was performed in five families with unipolar affective disorder, collected from northern Sweden.
Yuan, Q-P,
core  

Generation of Rhesus Macaque Embryos with Expanded CAG Trinucleotide Repeats in the Huntingtin Gene. [PDF]

open access: yesCells
Ryu J   +8 more
europepmc   +1 more source

Genomic studies of expanded trinucleotide repeats : focus on neuropsychiatric disorders

open access: yes, 1998
In a number of neurological and neuropsychiatric disorders, a worsening of the disease phenotype from one generation to the next has been linked to expanded trinucleotide repeat sequences that increase in size upon transmission.
Kerstin Lindblad (19493515)
core  

Quantitative investigations of FXN transcription and epigenetic modifications, including histone acetylation and methylation, in FRDA human and mouse tissues

open access: yes, 2009
This thesis was submitted for the degree of Master of Philosophy and awarded by Brunel University.Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and, limb ataxia, cardiomayopathy ...
Trabzuni, Daniah M
core  

Homozygous 31 trinucleotide repeats in the SCA2 allele are pathogenic for cerebellar ataxia. [PDF]

open access: yesNeurol Genet, 2018
Tojima M   +6 more
europepmc   +1 more source

Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy. [PDF]

open access: yesPLoS One, 2019
Wieben ED   +12 more
europepmc   +1 more source

p53 Binds Preferentially to Non-B DNA Structures Formed by the Pyrimidine-Rich Strands of GAA·TTC Trinucleotide Repeats Associated with Friedreich's Ataxia. [PDF]

open access: yesMolecules, 2019
Helma R   +11 more
europepmc   +1 more source

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