Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 141 Records) |
| Query Trace: Disease and HTT[original query] |
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| Tracing the mutated HTT and haplotype of the African ancestor who spread Huntington disease into the Middle East. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jul . Squitieri Ferdinando, Mazza Tommaso, Maffi Sabrina, De Luca Alessandro, AlSalmi Qasem, AlHarasi Salma, Collins Jennifer A, Kay Chris, Baine-Savanhu Fiona, Landwhermeyer Bernard G, Sabatini Umberto, Hayden Michael |
| Huntingtin gene CAG repeat size affects autism risk: Family-based and case-control association study. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2020 7 183 (6): 341-351. Piras Ignazio Stefano, Picinelli Chiara, Iennaco Raffaele, Baccarin Marco, Castronovo Paola, Tomaiuolo Pasquale, Cucinotta Francesca, Ricciardello Arianna, Turriziani Laura, Nanetti Lorenzo, Mariotti Caterina, Gellera Cinzia, Lintas Carla, Sacco Roberto, Zuccato Chiara, Cattaneo Elena, Persico Antonio |
| Genotyping single nucleotide polymorphisms for allele-selective therapy in Huntington disease. Neurology. Genetics 2020 6 6 (3): e430. Claassen Daniel O, Corey-Bloom Jody, Dorsey E Ray, Edmondson Mary, Kostyk Sandra K, LeDoux Mark S, Reilmann Ralf, Rosas H Diana, Walker Francis, Wheelock Vicki, Svrzikapa Nenad, Longo Kenneth A, Goyal Jaya, Hung Serena, Panzara Michael |
| Live births following preimplantation genetic testing for dynamic mutation diseases by karyomapping: a report of three cases. Journal of assisted reproduction and genetics 2020 3 37 (3): 539-548. Shi Dayuan, Xu Jiawei, Niu Wenbin, Liu Yidong, Shi Hao, Yao Guidong, Shi Senlin, Li Gang, Song Wenyan, Jin Haixia, Sun Ying |
| 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 |
| The role of genetics in neurodegenerative dementia: a large cohort study in South China. NPJ genomic medicine 2021 8 6 (1): 69. Jiao Bin, Liu Hui, Guo Lina, Xiao Xuewen, Liao Xinxin, Zhou Yafang, Weng Ling, Zhou Lu, Wang Xin, Jiang Yaling, Yang Qijie, Zhu Yuan, Zhou Lin, Zhang Weiwei, Wang Junling, Yan Xinxiang, Li Jinchen, Tang Beisha, Shen |
| Accelerated expansion of pathogenic mitochondrial DNA heteroplasmies in Huntington's disease. Proceedings of the National Academy of Sciences of the United States of America 2021 7 118 (30): . Wang Yiqin, Guo Xiaoxian, Ye Kaixiong, Orth Michael, Gu Zhenglo |
| Population genetic variation of SLC6A4 gene, associated with neurophysiological development. Journal of genetics 2021 3 100 . Hande Shyamala H, Krishna Swathy M, Sahote Komalroop Kaur, Dev Nirosha, Erl Ting Pei, Ramakrishna Kovindraam, Ravidhran Renuka, Das Ranaj |
| A Novel Triplet-Primed PCR Assay to Detect the Full Range of Trinucleotide CAG Repeats in the Huntingtin Gene (HTT). International journal of molecular sciences 2021 2 22 (4): . De Luca Alessandro, Morella Annunziata, Consoli Federica, Fanelli Sergio, Thibert Julie R, Statt Sarah, Latham Gary J, Squitieri Ferdinan |
| Developmental malformations in Huntington disease: neuropathologic evidence of focal neuronal migration defects in a subset of adult brains. Acta neuropathologica 2021 1 141 (3): 399-413. Hickman R A, Faust P L, Rosenblum M K, Marder K, Mehler M F, Vonsattel J |
| Huntington's disease age at motor onset is modified by the tandem hexamer repeat in TCERG1. NPJ genomic medicine 2022 9 7 (1): 53. Lobanov Sergey V, McAllister Branduff, McDade-Kumar Mia, Landwehrmeyer G Bernhard, Orth Michael, Rosser Anne E, , Paulsen Jane S, , Lee Jong-Min, MacDonald Marcy E, Gusella James F, Long Jeffrey D, Ryten Mina, Williams Nigel M, Holmans Peter, Massey Thomas H, Jones Lesl |
| Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease. Human molecular genetics 2022 9 . Ruiz de Sabando Ainara, Urrutia Lafuente Edurne, Galbete Arkaitz, Ciosi Marc, García Amigot Fermín, García Solaesa Virginia, , Monckton Darren G, Ramos-Arroyo Maria |
| Clinical and Molecular Findings of Intermediate Allele Carriers in the HTT Gene from the Mexican Mestizo Population. Neuro-degenerative diseases 2022 Aug . Ramírez-García Miguel Ángel, Dávila-Ortiz de Montellano David José, Martínez-Ruano Leticia, Ochoa-Morales Adriana, Romero-Hidalgo Sandra, Zenteno Juan Carlos, Yescas-Gómez Pet |
| Intermediate and Expanded HTT Alleles and the Risk for ?-Synucleinopathies. Movement disorders : official journal of the Movement Disorder Society 2022 7 37 (9): 1841-1849. Pérez-Oliveira Sergio, Álvarez Ignacio, Rosas Irene, Menendez-González Manuel, Blázquez-Estrada Marta, Aguilar Miquel, Corte Daniela, Buongiorno Mariateresa, Molina-Porcel Laura, Aldecoa Iban, Martí María J, Sánchez-Juan Pascual, Infante Jon, González-Aramburu Isabel, García-González Pablo, Rosende-Roca Maitée, Boada Mercè, Ruiz Agustín, Periñán María Teresa, Macías-García Daniel, Muñoz-Delgado Laura, Gómez-Garre Pilar, Mir Pablo, Clarimón Jordi, Lleo Alberto, Alcolea Daniel, De la Casa-Fages Beatriz, Duarte Israel, Álvarez Victoria, Pastor P |
| 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 |
| Polymorphism of neurodegeneration-related genes associated with Parkinson's disease risk. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022 6 43 (9): 5301-5312. Li Jiaxin, Yi Minhan, Li Binbin, Yin Shujuan, Zhang Ying, Huang Zini, Shu Li, Zhang Yu |
| Intermediate alleles of HTT: A new pathway in longevity. Journal of the neurological sciences 2022 5 438 120274. Ingannato Assunta, Bagnoli Silvia, Bessi Valentina, Ferrari Camilla, Mazzeo Salvatore, Sorbi Sandro, Nacmias Benedet |
| Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset. Nature neuroscience 2022 4 25 (4): 446-457. McAllister Branduff, Donaldson Jasmine, Binda Caroline S, Powell Sophie, Chughtai Uroosa, Edwards Gareth, Stone Joseph, Lobanov Sergey, Elliston Linda, Schuhmacher Laura-Nadine, Rees Elliott, Menzies Georgina, Ciosi Marc, Maxwell Alastair, Chao Michael J, Hong Eun Pyo, Lucente Diane, Wheeler Vanessa, Lee Jong-Min, MacDonald Marcy E, Long Jeffrey D, Aylward Elizabeth H, Landwehrmeyer G Bernhard, Rosser Anne E, , Paulsen Jane S, , Williams Nigel M, Gusella James F, Monckton Darren G, Allen Nicholas D, Holmans Peter, Jones Lesley, Massey Thomas |
| CAG Repeats Within the Non-pathological Range in the HTT Gene Influence Personality Traits in Patients With Subjective Cognitive Decline: A 13-Year Follow-Up Study. Frontiers in psychiatry 2022 4 13 826135. Moschini Valentina, Mazzeo Salvatore, Bagnoli Silvia, Padiglioni Sonia, Emiliani Filippo, Giacomucci Giulia, Morinelli Carmen, Ingannato Assunta, Freni Tommaso, Belloni Laura, Ferrari Camilla, Sorbi Sandro, Nacmias Benedetta, Bessi Valenti |
| 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 |
| The Huntington's Disease Gene in an Italian Cohort of Patients with Bipolar Disorder. Genes 2023 9 14 (9): . Camilla Ferrari, Elena Capacci, Silvia Bagnoli, Assunta Ingannato, Sandro Sorbi, Benedetta Nacmi |
| Relationship between gene-environment interaction and obsessive-compulsive disorder: A systematic review. Journal of psychiatric research 2023 6 164 281-290. Lina Wang, Yu Chen, Miao Wang, Chaoben Zhao, Dongdong Qi |
| 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 |
| Preclinical evaluation of stereopure antisense oligonucleotides for allele-selective lowering of mutant HTT. Molecular therapy. Nucleic acids 2024 7 35 (3): 102246. Naoki Iwamoto, Yuanjing Liu, Maria Frank-Kamenetsky, Abbie Maguire, Wei Chou Tseng, Kristin Taborn, Nayantara Kothari, Ali Akhtar, Keith Bowman, Juili Dilip Shelke, Anthony Lamattina, Xiao Shelley Hu, Hyun Gyung Jang, Pachamuthu Kandasamy, Fangjun Liu, Ken Longo, Richard Looby, Meena, Jake Metterville, Qianli Pan, Erin Purcell-Estabrook, Mamoru Shimizu, Priyanka Shiva Prakasha, Stephany Standley, Hansini Upadhyay, Hailin Yang, Yuan Yin, Anderson Zhao, Christopher Francis, Mike Byrne, Elena Dale, Gregory L Verdine, Chandra Vargee |
| The eye movement and gait variability analysis in Chinese patients with Huntington's disease. Journal of movement disorders 2024 12 . Shu-Xia Qian, Yu-Feng Bao, Xiao-Yan Li, Yi Dong, Zhi-Ying |
| Ascertainment of uninterrupted CAG repeat length and disease-modifying variants in fragment-based genetic testing for Huntington Disease. Genetics in medicine open 2024 12 2 101882. Hailey Findlay Black, Chris Kay, Jessica Dawson, Stephanie Bortnick, Kyla Javier, Qingwen Xia, Cheuk Hin Chau, Tess Leavitt, Larissa Arning, Huu Phuc Nguyen, Michael R Hayd |
| Huntingtin CAG repeat size variations below the Huntington's disease threshold: associations with depression, anxiety and basal ganglia structure. European journal of human genetics : EJHG 2024 11 . Magdalena Vater, Nicolas Rost, Gertrud Eckstein, Susann Sauer, Alina Tontsch, Angelika Erhardt, Susanne Lucae, Tanja Brückl, Thomas Klopstock, Philipp G Sämann, Elisabeth B Bind |
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