Human Genome Epidemiology Literature Finder
Records 1 - 10 (of 10 Records) |
Query Trace: Sclerosis and HTT[original query] |
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Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients. Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 2012 May 13 (3): 265-9. Ramos Eliana Marisa, Keagle Pamela, Gillis Tammy, Lowe Patrick, Mysore Jayalakshmi S, Leclerc Ashley Lyn, Ratti Antonia, Ticozzi Nicola, Gellera Cinzia, Gusella James F, Silani Vincenzo, Alonso Isabel, Brown Robert H, MacDonald Marcy E, Landers John |
Defining neurodegeneration on Guam by targeted genomic sequencing. Annals of neurology 2015 Mar 77 (3): 458-68. Steele John C, Guella Ilaria, Szu-Tu Chelsea, Lin Michelle K, Thompson Christina, Evans Daniel M, Sherman Holly E, Vilariño-Güell Carles, Gwinn Katrina, Morris Huw, Dickson Dennis W, Farrer Matthew |
Rare homozygosity in amyotrophic lateral sclerosis suggests the contribution of recessive variants to disease genetics. Journal of the neurological sciences 2019 May 402 62-68. Goldstein Orly, Kedmi Merav, Gana-Weisz Mali, Twito Shir, Nefussy Beatrice, Vainer Batel, Fainmesser Yaara, Abraham Alon, Nayshool Omri, Orr-Urtreger Avi, Drory Vivian |
Neurofilament Light Chain and Intermediate HTT Alleles as Combined Biomarkers in Italian ALS Patients. Frontiers in neuroscience 2021 9 15 695049. Ingannato Assunta, Bagnoli Silvia, Mazzeo Salvatore, Bessi Valentina, Matà Sabrina, Del Mastio Monica, Lombardi Gemma, Ferrari Camilla, Sorbi Sandro, Nacmias Benedet |
C9orf72 hexanucleotide repeat expansion found in suspected spinobulbar muscular atrophy (SBMA). Neurologia i neurochirurgia polska 2022 6 56 (3): 276-280. Radziwonik Wiktoria, Elert-Dobkowska Ewelina, Tomczuk Filip, Wozniak Aleksandra, Sobanska Anna, Stepniak Iwona, Koziorowski Dariusz, Zaremba Jacek, Su?ek An |
DNA methylation age acceleration is associated with age of onset in Chinese spinocerebellar ataxia type 3 patients. Neurobiology of aging 2022 3 113 1-6. Li Jiahao, Shu Anli, Sun Yimin, Yang Wanli, Tang Xuelin, Pu Hongjiang, Peng Yun, Hu Xiaowen, Qing Ying, Wang Jian, Wan Chunling, Zhou Mingcheng, Zhang Mi |
Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis. Annals of clinical and translational neurology 2022 10 9 (11): 1820-1825. Manini Arianna, Gagliardi Delia, Meneri Megi, Antognozzi Sara, Del Bo Roberto, Scaglione Cesa, Comi Giacomo Pietro, Corti Stefania, Ronchi Dar |
A mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's disease. Clinical genetics 2023 12 . Antonio Canosa, Sara Cabras, Francesca Di Pede, Umberto Manera, Rosario Vasta, Cristina Moglia, Andrea Calvo, Salvatore Gallone, Adriano Ch |
Reduced-penetrance Huntington's disease-causing alleles with 39 CAG trinucleotide repeats could be a genetic factor of amyotrophic lateral sclerosis. Journal of the Chinese Medical Association : JCMA 2023 1 86 (1): 47-51. Jih Kang-Yang, Lai Kuan-Lin, Lin Kon-Ping, Liao Yi-Chu, Lee Yi-Chu |
Small striatal huntingtin inclusions in patients with motor neuron disease with reduced penetrance and intermediate HTT gene expansions. Human molecular genetics 2024 9 . Anna-Karin Roos, Erica Stenvall, Emmy Skelton Kockum, Kornelia Åman Grönlund, Helena Alstermark, Anna Wuolikainen, Peter M Andersen, Angelica Nordin, Karin M E Forsbe |
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