Results 151 to 160 of about 40,467 (259)

Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus [PDF]

, 2002
BACKGROUND: Ten neurodegenerative disorders characterized by spinocerebellar ataxia (SCA) are known to be caused by trinucleotide repeat (TNR) expansions.
Alonso, I, Barbot, C, Barros, J, Coelho, J, Ferreirinha, F, Ferro, A, Guimarães, L, Januário, C, Mendonça, P, Miranda, C, Moreira, MC, Pinto-Basto, J, Poirier, J, Silveira, I, Tuna, A, Vale, J   +15 more
core  

Dissecting the roles of EIF4G homologs reveals DAP5 as a modifier of CGG repeat-associated toxicity in a Drosophila model of FXTAS

Neurobiology of Disease, 2023
Neurodegeneration in Fragile X-associated tremor/ataxia syndrome (FXTAS) is caused by a CGG trinucleotide repeat expansion in the 5′ UTR of FMR1. Expanded CGG repeat RNAs form stable secondary structures, which in turn support repeat-associated non-AUG ...
Indranil Malik, Yi-Ju Tseng, Clare M. Wieland, Katelyn M. Green, Kristina Zheng, Katyanne Calleja, Peter K. Todd   +6 more
doaj  

DNA Methylation Leads to DNA Repair Gene Down-Regulation and Trinucleotide Repeat Expansion in Patient-Derived Huntington Disease Cells [PDF]

, 2016
Peter A. Mollica, John A. Reid, Roy C. Ogle, Patrick C. Sachs, Robert D. Bruno   +4 more
openalex   +1 more source

Study of trinucleotide CAG-repeats expansion in androgen receptor gene among patients with suspected Kennedy’s syndrome

, 2023
B. I. Tretiak, M. Tyrkus, Kh. Ya. Bakum, D. V. Zastavna, Hayane Akopyan   +4 more
openalex   +2 more sources

The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician [PDF]

, 2013
A growing number of progressive heredodegenerative conditions mimic the presentation of Huntington's disease (HD). Differentiating among these HD-like syndromes is necessary when a patient with a combination of movement disorders, cognitive decline ...
Bhatia, KP, Martino, D, Stamelou, M
core  

Generation of Spinocerebellar Ataxia Type 2 induced pluripotent stem cell lines, CHOPi002-A and CHOPi003-A, from patients with abnormal CAG repeats in the coding region of the ATXN2 gene

Stem Cell Research, 2019
Spinocerebellar Ataxia Type 2 (SCA2) is an autosomal dominant disease characterized by progressive degeneration of the cerebellum, brain stem, and spinal cord.
Jean Ann Maguire, Alyssa L. Gagne, Pedro Gonzalez-Alegre, Beverly L. Davidson, Vikram Shakkottai, Paul Gadue, Deborah L. French   +6 more
doaj  

A Case Report of Myotonic Dystrophy Type 1 Presenting as Acute Respiratory Failure

罕见病研究
Myotonic dystrophy type 1 (DM1) is a multisystem trinucleotide repeat expansion disorder usually referred to the department of neurology with complaints of progressive muscle weakness and myotonia.
WANG Yiqi, LIN Jie, XI Jianying, LUO Sushan, ZHENG Yanmei, ZHAO Chongbo   +5 more
doaj   +1 more source

A pedigree of spinocerebellar ataxia type 2

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
DOI: 10.3969/j.issn.1672-6731.2019.03 ...
Yan-xin LI, Li SONG, Zhan-yun LÜ, Quan-quan WANG, Yan-lei HAO   +4 more
doaj  

Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease [PDF]

, 2023
Joel Wallenius, Efthymia Kafantari, Emma Jhaveri, Sorina Gorcenco, Adam Ameur, Christin Karremo, Sigurd Dobloug, Kristina Karrman, Tom de Koning, Andreea Ilinca, Maria Landqvist Waldö, Andreas Arvidsson, Staffan Persson, Elisabet Englund, Hans Ehrencrona, Andreas Puschmann   +15 more
openalex   +1 more source

Trinucleotide (GAA)n repeat expansion in two families with Friedreich's ataxia with retained reflexes [PDF]

, 1997
Mark Kellett, Nicholas Fletcher, Nicholas Wood, T P Enevoldson   +3 more
openalex   +1 more source