160 related articles for article (PubMed ID: 32741964)
1. Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range.
Findlay Black H; Wright GEB; Collins JA; Caron N; Kay C; Xia Q; Arning L; Bijlsma EK; Squitieri F; Nguyen HP; Hayden MR
Genet Med; 2020 Dec; 22(12):2108-2113. PubMed ID: 32741964
[TBL] [Abstract][Full Text] [Related]
2. Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease.
Wright GEB; Collins JA; Kay C; McDonald C; Dolzhenko E; Xia Q; Bečanović K; Drögemöller BI; Semaka A; Nguyen CM; Trost B; Richards F; Bijlsma EK; Squitieri F; Ross CJD; Scherer SW; Eberle MA; Yuen RKC; Hayden MR
Am J Hum Genet; 2019 Jun; 104(6):1116-1126. PubMed ID: 31104771
[TBL] [Abstract][Full Text] [Related]
3. Loss of CAA interruption and intergenerational CAG instability in Chinese patients with Huntington's disease.
Bao YF; Li XY; Dong Y; Wu ZY
J Mol Med (Berl); 2023 Jul; 101(7):869-876. PubMed ID: 37231148
[TBL] [Abstract][Full Text] [Related]
4. The length of uninterrupted CAG repeats in stem regions of repeat disease associated hairpins determines the amount of short CAG oligonucleotides that are toxic to cells through RNA interference.
Murmann AE; Patel M; Jeong SY; Bartom ET; Jennifer Morton A; Peter ME
Cell Death Dis; 2022 Dec; 13(12):1078. PubMed ID: 36585400
[TBL] [Abstract][Full Text] [Related]
5. A Study of Triplet-Primed PCR for Identification of CAG Repeat Expansion in the HTT Gene in a Cohort of 503 Indian Cases with Huntington's Disease Symptoms.
Chheda P; Chanekar M; Salunkhe Y; Dama T; Pais A; Pande S; Bendre R; Shah N
Mol Diagn Ther; 2018 Jun; 22(3):353-359. PubMed ID: 29619771
[TBL] [Abstract][Full Text] [Related]
6. A Novel Triplet-Primed PCR Assay to Detect the Full Range of Trinucleotide CAG Repeats in the Huntingtin Gene (
De Luca A; Morella A; Consoli F; Fanelli S; Thibert JR; Statt S; Latham GJ; Squitieri F
Int J Mol Sci; 2021 Feb; 22(4):. PubMed ID: 33567536
[TBL] [Abstract][Full Text] [Related]
7. Interrupting sequence variants and age of onset in Huntington's disease: clinical implications and emerging therapies.
Wright GEB; Black HF; Collins JA; Gall-Duncan T; Caron NS; Pearson CE; Hayden MR
Lancet Neurol; 2020 Nov; 19(11):930-939. PubMed ID: 33098802
[TBL] [Abstract][Full Text] [Related]
8. Age of Onset of Huntington's Disease in Carriers of Reduced Penetrance Alleles.
McDonnell EI; Wang Y; Goldman J; Marder K
Mov Disord; 2021 Dec; 36(12):2958-2961. PubMed ID: 34536046
[TBL] [Abstract][Full Text] [Related]
9. Missing the pathological expansion in Huntington disease: de novo c.51C>G variant on the expanded allele causing intrafamilial allele dropout.
Magri S; Nanetti L; Mongelli A; Rizzo E; Taroni F; Mariotti C; Gellera C
Am J Med Genet A; 2021 Feb; 185(2):397-400. PubMed ID: 33247537
[TBL] [Abstract][Full Text] [Related]
10. Biallelic mutations in huntington disease: A new case with just one affected parent, review of the literature and terminology.
Uhlmann WR; Peñaherrera MS; Robinson WP; Milunsky JM; Nicholson JM; Albin RL
Am J Med Genet A; 2015 May; 167A(5):1152-60. PubMed ID: 25736541
[TBL] [Abstract][Full Text] [Related]
11. Enhanced Detection and Sizing of the HTT CAG Repeat Expansion in Huntington Disease Using an Improved Triplet-Primed PCR Assay.
Zhao M; Lee CG; Law HY; Chong SS
Neurodegener Dis; 2016; 16(5-6):348-51. PubMed ID: 27207688
[TBL] [Abstract][Full Text] [Related]
12. A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes.
Ciosi M; Maxwell A; Cumming SA; Hensman Moss DJ; Alshammari AM; Flower MD; Durr A; Leavitt BR; Roos RAC; ; ; Holmans P; Jones L; Langbehn DR; Kwak S; Tabrizi SJ; Monckton DG
EBioMedicine; 2019 Oct; 48():568-580. PubMed ID: 31607598
[TBL] [Abstract][Full Text] [Related]
13. Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.
Mariani LL; Tesson C; Charles P; Cazeneuve C; Hahn V; Youssov K; Freeman L; Grabli D; Roze E; Noël S; Peuvion JN; Bachoud-Levi AC; Brice A; Stevanin G; Durr A
JAMA Neurol; 2016 Sep; 73(9):1105-14. PubMed ID: 27400454
[TBL] [Abstract][Full Text] [Related]
14. Incidence of Huntington disease in a northeastern Spanish region: a 13-year retrospective study at tertiary care centre.
Sienes Bailo P; Lahoz R; Sánchez Marín JP; Izquierdo Álvarez S
BMC Med Genet; 2020 Nov; 21(1):233. PubMed ID: 33228555
[TBL] [Abstract][Full Text] [Related]
15. Huntingtin gene CAG repeat size affects autism risk: Family-based and case-control association study.
Piras IS; Picinelli C; Iennaco R; Baccarin M; Castronovo P; Tomaiuolo P; Cucinotta F; Ricciardello A; Turriziani L; Nanetti L; Mariotti C; Gellera C; Lintas C; Sacco R; Zuccato C; Cattaneo E; Persico AM
Am J Med Genet B Neuropsychiatr Genet; 2020 Sep; 183(6):341-351. PubMed ID: 32652810
[TBL] [Abstract][Full Text] [Related]
16. Epidemiology of Huntington disease.
Kay C; Hayden MR; Leavitt BR
Handb Clin Neurol; 2017; 144():31-46. PubMed ID: 28947124
[TBL] [Abstract][Full Text] [Related]
17. Molecular analysis and prevalence of Huntington disease in northwestern Iran.
Shekari Khaniani M; Aob P; Ranjouri M; Mansoori Derakhsan S
Turk J Med Sci; 2017 Dec; 47(6):1880-1884. PubMed ID: 29306253
[TBL] [Abstract][Full Text] [Related]
18. Approaches to Sequence the HTT CAG Repeat Expansion and Quantify Repeat Length Variation.
Ciosi M; Cumming SA; Chatzi A; Larson E; Tottey W; Lomeikaite V; Hamilton G; Wheeler VC; Pinto RM; Kwak S; Morton AJ; Monckton DG
J Huntingtons Dis; 2021; 10(1):53-74. PubMed ID: 33579864
[TBL] [Abstract][Full Text] [Related]
19. CAG repeat size in Huntingtin alleles is associated with cancer prognosis.
Thion MS; Tézenas du Montcel S; Golmard JL; Vacher S; Barjhoux L; Sornin V; Cazeneuve C; Bièche I; Sinilnikova O; Stoppa-Lyonnet D; Durr A; Humbert S
Eur J Hum Genet; 2016 Aug; 24(9):1310-5. PubMed ID: 26980106
[TBL] [Abstract][Full Text] [Related]
20. Risk factors for the onset and progression of Huntington disease.
Chao TK; Hu J; Pringsheim T
Neurotoxicology; 2017 Jul; 61():79-99. PubMed ID: 28111121
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
