Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 186 Records) |
Query Trace: Huntington's disease[original query] |
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Cognitive and Affective Empathy in Huntington's Disease. Journal of Huntington's disease 2021 9 10 (3): 323-334. Puig-Davi Arnau, Martinez-Horta Saul, Sampedro Frederic, Horta-Barba Andrea, Perez-Perez Jesus, Campolongo Antonia, Izquierdo-Barrionuevo Cristina, Pagonabarraga Javier, Gomez-Anson Beatriz, Kulisevsky Jai |
The prevalence of pain in Huntington's disease in a large worldwide cohort. Parkinsonism & related disorders 2021 7 89 73-78. Sprenger Gregory P, Roos Raymund A C, van Zwet Erik, Reijntjes Robert H, Achterberg Wilco P, de Bot Susanne |
Mild Cognitive Impairment as an Early Landmark in Huntington's Disease. Frontiers in neurology 2021 12 678652. Zhang Ying, Zhou Junyi, Gehl Carissa R, Long Jeffrey D, Johnson Hans, Magnotta Vincent A, Sewell Daniel, Shannon Kathleen, Paulsen Jane |
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 |
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism. Nature communications 2021 5 12 (1): 3216. Laabs Björn-Hergen, Klein Christine, Pozojevic Jelena, Domingo Aloysius, Brüggemann Norbert, Grütz Karen, Rosales Raymond L, Jamora Roland Dominic, Saranza Gerard, Diesta Cid Czarina E, Wittig Michael, Schaake Susen, Dulovic-Mahlow Marija, Quismundo Jana, Otto Pia, Acuna Patrick, Go Criscely, Sharma Nutan, Multhaupt-Buell Trisha, Müller Ulrich, Hanssen Henrike, Kilpert Fabian, Franke Andre, Rolfs Arndt, Bauer Peter, Dobri?i? Valerija, Lohmann Katja, Ozelius Laurie J, Kaiser Frank J, König Inke R, Westenberger A |
Another Perspective on Huntington's Disease: Disease Burden in Family Members and Pre-Manifest HD When Compared to Genotype-Negative Participants from ENROLL-HD. Brain sciences 2021 12 11 (12): . Achenbach Jannis, Saft Carst |
Arithmetic Word-Problem Solving as Cognitive Marker of Progression in Pre-Manifest and Manifest Huntington's Disease. Journal of Huntington's disease 2021 10 10 (4): 459-468. Horta-Barba Andrea, Martinez-Horta Saul, Perez-Perez Jesús, Sampedro Frederic, de Lucia Natascia, De Michele Giuseppe, Salvatore Elena, Kehrer Stefanie, Priller Josef, Migliore Simone, Squitieri Ferdinando, Castaldo Anna, Mariotti Caterina, Mañanes Veronica, Lopez-Sendon Jose Luis, Rodriguez Noelia, Martinez-Descals Asunción, Júlio Filipa, Janurio Cristina, Delussi Marianna, de Tommaso Marina, Noguera Sandra, Ruiz-Idiago Jesus, Sitek Emilia J, Wallner Renata, Nuzzi Angela, Pagonabarraga Javier, Kulisevsky Jaime, |
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 |
Bioinformatics Analysis Based on TCGA: MUC16 Mutation Correlates with Clinical Outcome in Gastric Cancer. Disease markers 2022 2022 6734105. Huang Liang, Zheng Shuang, Fu Junhui, Zhang Meng, Ge Xiaogang, Mu Ni |
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 |
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 |
Polymorphisms in the oxytocin receptor and their association with apathy and impaired social cognition in Huntington's disease. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022 Jun . Saiz-Rodríguez Miriam, Gil-Polo Cecilia, Diez-Fairen Mónica, Martinez-Horta Saul-Indra, Sampedro Santalo Frederic, Calvo Sara, Alonso-García Esther, Riñones-Mena Esther, Aguado Laura, Mariscal Natividad, Muñoz-Siscart Ignacio, Piñeiro Dolores, Rivadeneyra Jessica, Cubo Esth |
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 |
Decreased CSF oxytocin relates to measures of social cognitive impairment in Huntington's disease patients. Parkinsonism & related disorders 2022 5 99 23-29. Hellem Marie N N, Cheong Rachel Y, Tonetto Simone, Vinther-Jensen Tua, Hendel Rebecca K, Larsen Ida U, Nielsen Troels T, Hjermind Lena E, Vogel Asmus, Budtz-Jørgensen Esben, Petersén Åsa, Nielsen Jørgen |
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 |
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 |
Clinical and genetic characteristics of late-onset Huntington's disease in a large European cohort. European journal of neurology 2022 3 29 (7): 1940-1951. Petracca Martina, Di Tella Sonia, Solito Marcella, Zinzi Paola, Lo Monaco Maria Rita, Di Lazzaro Giulia, Calabresi Paolo, Silveri Maria Caterina, Bentivoglio Anna Ri |
Differential Transcriptome Profiling Unveils Novel Deregulated Gene Signatures Involved in Pathogenesis of Alzheimer's Disease. Biomedicines 2022 3 10 (3): . Singh Himanshu Narayan, Swarup Vishnu, Dubey Navneet Kumar, Jha Niraj Kumar, Singh Anjani Kumar, Lo Wen-Cheng, Kumar Sanj |
Smoking, alcohol consumption, and age at onset of Huntington's disease: a Mendelian randomization study. Parkinsonism & related disorders 2022 3 97 34-38. Wang Mengmeng, Liu Dandan, Yang Song, Li Yun, Lian Xueg |
Association between Genetically Proxied Inhibition of HMG-CoA Reductase and Age at Onset of Huntington's Disease. Brain sciences 2022 11 12 (11): . Zhu Yahui, Li Mao, Wang Hongfen, Yang Fei, Wang Jiao, Huang Xushe |
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 |
Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders. Journal of the neurological sciences 2023 6 451 120707. Martin Paucar, José Laffita-Mesa, Valter Niemelä, Helena Malmgren, Inger Nennesmo, Kristina Lagerstedt-Robinson, Magnus Nordenskjöld, Per Svenningss |
Language disorders in patients with striatal lesions: Deciphering the role of the striatum in language performance. Cortex; a journal devoted to the study of the nervous system and behavior 2023 6 166 91-106. Lorna Le Stanc, Katia Youssov, Maria Giavazzi, Agnès Sliwinski, Anne-Catherine Bachoud-Lévi, Charlotte Jacquem |
Proteomic analysis of X-linked dystonia parkinsonism disease striatal neurons reveals altered RNA metabolism and splicing. Neurobiology of disease 2023 12 106367. Kizito-Tshitoko Tshilenge, Joanna Bons, Carlos Galicia Aguirre, Cristian Geronimo-Olvera, Samah Shah, Jacob Rose, Akos A Gerencser, Sally K Mak, Michelle E Ehrlich, D Cristopher Bragg, Birgit Schilling, Lisa M Eller |
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 |
In silico SNP prediction of selected protein orthologues in insect models for Alzheimer's, Parkinson's, and Huntington's diseases. Scientific reports 2023 11 13 (1): 18986. Eshraka A Al-Ayari, Magdi G Shehata, Mohamed El-Hadidi, Mona G Shaal |
Study protocol of the HD-MED study aiming to personalize drug treatment in Huntington's disease: a longitudinal, observational study to assess medication use and efficacy in relation to pharmacogenetics. Therapeutic advances in rare disease 2023 11 4 26330040231204643. Stephanie Feleus, Maaike van der Lee, Jesse J Swen, Raymund A C Roos, Susanne T de B |
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 |
Neurophysiological hallmarks of Huntington's disease progression: an EEG and fMRI connectivity study. Frontiers in aging neuroscience 2024 1 15 1270226. Natalya V Ponomareva, Sergey A Klyushnikov, Natalia Abramycheva, Rodion N Konovalov, Marina Krotenkova, Ekaterina Kolesnikova, Daria Malina, Gusel Urazgildeeva, Elena Kanavets, Andrey Mitrofanov, Vitaly Fokin, Evgeny Rogaev, Sergey N Illarioshk |
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- Page last updated:Mar 25, 2024
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