Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 445 Records) |
| Query Trace: Disease and HD[original query] |
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| 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 |
| Top Alzheimer's disease risk allele frequencies differ in HABS-HD Mexican- versus Non-Hispanic White Americans. Alzheimer's & dementia (Amsterdam, Netherlands) 2023 12 15 (4): e12518. Mohammad Housini, Zhengyang Zhou, John Gutierrez, Sumedha Rao, Rodwan Jomaa, Kumudu Subasinghe, Danielle Marie Reid, Talisa Silzer, Nicole Phillips, Sid O'Bryant, Robert Clinton Barber, |
| 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 |
| HLA allele-calling using multi-ancestry whole-exome sequencing from the UK Biobank identifies 129 novel associations in 11 autoimmune diseases. Communications biology 2023 11 6 (1): 1113. Guillaume Butler-Laporte, Joseph Farjoun, Tomoko Nakanishi, Tianyuan Lu, Erik Abner, Yiheng Chen, Michael Hultström, Andres Metspalu, Lili Milani, Reedik Mägi, Mari Nelis, Georgi Hudjashov, , Satoshi Yoshiji, Yann Ilboudo, Kevin Y H Liang, Chen-Yang Su, Julian D S Willet, Tõnu Esko, Sirui Zhou, Vincenzo Forgetta, Daniel Taliun, J Brent Richar |
| 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 |
| A - 50 Examining NfL as a Moderator for APOE Status and Cognitive Dispersion. Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists 2023 10 . Nanako A Hawley, Melissa A Myers, Jasmin H Pizer, Vasilios C Ikonomou, Bailey Wagaman, Ivan Campbell, Sid O'Bryant, Benjamin D Hi |
| Clinical impact of the TPSAB1 genotype in mast cell diseases: A REMA study in a cohort of 959 individuals. Allergy 2023 10 . David González-de-Olano, Paula Navarro-Navarro, Javier I Muñoz-González, Laura Sánchez-Muñoz, Ana Henriques, Ana de-Andrés-Martín, Dolores Peralta-Arjonilla, Andrea Mayado, María Jara-Acevedo, Andrés C García-Montero, Alberto Orfao, Iván Álvarez-Two |
| Inflammation and Vitamin D Receptor Polymorphism: Impact on All-Cause and Cardiovascular Mortality in Mexican Women on Dialysis. Biomedicines 2024 9 12 (9): . Marcela Avila, Carmen Mora, Ma Del Carmen Prado-Uribe, Alfonso Cueto-Manzano, Abdul Rashid Qureshi, Bengt Lindholm, Alma Sofía Bernal Amador, Ramón Paniag |
| Nerve growth factor gene polymorphisms may be associated with heroin dependence in women but do not mediate specific personality traits. European archives of psychiatry and clinical neuroscience 2024 9 . Shin-Chang Kuo, Chun-Long Lin, Chang-Chih Tsou, Yi-Wei Yeh, Bao-Zhu Yang, Chun-Yen Chen, Chih-Yun Huang, San-Yuan Hua |
| 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 |
| Protein-truncating and rare missense variants in ATM and CHEK2 and associations with cancer in UK Biobank whole-exome sequence data. Journal of medical genetics 2024 8 . Toqir K Mukhtar, Naomi Wilcox, Joe Dennis, Xin Yang, Marc Naven, Nasim Mavaddat, John R B Perry, Eugene Gardner, Douglas F East |
| Effect of DNA methylation at the CTLA4 gene on the clinical status of autoimmune thyroid diseases. Clinical immunology (Orlando, Fla.) 2024 8 267 110338. Hiroki Ohtani, Naoya Inoue, Yoshinori Iwatani, Yuri Takeno, Yuya Arakawa, Yoh Hidaka, Mikio Watana |
| 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 |
| Neurochemical changes in the progression of Huntington's disease: A meta-analysis of in vivoH-MRS studies. Neurobiology of disease 2024 6 199 106574. Yinghua Jing, Imis Dogan, Kathrin Reetz, Sandro Romanzet |
| APOE ?4 carrier status modifies plasma p-tau181 concentrations in cognitively healthy super-seniors. Alzheimer's & dementia : the journal of the Alzheimer's Association 2024 5 . Jennifer G Cooper, Mohammad Ghodsi, Sophie Stukas, Stephen Leach, Angela Brooks-Wilson, Cheryl L Wellingt |
| Causal relationship between inflammatory cytokines and autoimmune thyroid disease: a bidirectional two-sample Mendelian randomization analysis. Frontiers in immunology 2024 4 15 1334772. Zhiwei Yao, Fengli Guo, Yanlu Tan, Yiyuan Zhang, Yichen Geng, Guang Yang, Song Wa |
| Methylation levels of the IL10 gene in peripheral blood are related to the intractability of Graves' disease. Clinical immunology (Orlando, Fla.) 2024 4 263 110196. Riku Kinoshita, Naoya Inoue, Yoshinori Iwatani, Yusuke Noguchi, Yoh Hidaka, Mikio Watana |
| Cerebrospinal fluid glial fibrillary acidic protein, in contrast to amyloid beta protein, is associated with disease symptoms in Huntington's disease. Journal of the neurological sciences 2024 4 459 122979. Sara Korpela, Jimmy Sundblom, Henrik Zetterberg, Radu Constantinescu, Per Svenningsson, Martin Paucar, Valter Nieme |
| Genetic polymorphisms and clinical parameters associated with renal toxicity in Thai hematologic malignancy patients receiving high dose methotrexate. Scientific reports 2024 4 14 (1): 9695. Palada Pitakkitnukun, Thanakit Pongpitakmetha, Thitima Benjachat Suttichet, Warumphon Sukkummee, Pajaree Chariyavilaskul, Chantana Polprase |
| Impaired reprogramming of the autophagy flux in maturing dendritic cells from crohn disease patients with core autophagy gene-related polymorphisms. Autophagy 2024 4 1-17. Gaëlle Quiniou, Leslie Andromaque, Rémi Duclaux-Loras, Océane Dinet, Ornella Cervantes, Mallorie Verdet, Camille Meunier, Gilles Boschetti, Christophe Viret, Stéphane Nancey, Mathias Faure, Aurore Rozièr |
| 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 |
| Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry. Journal of molecular medicine (Berlin, Germany) 2024 12 . Hui-Qi Qu, Matthew S Delfiner, Chethan Gangireddy, Anjali Vaidya, Kenny Nguyen, Isaac R Whitman, JuFang Wang, Jianliang Song, Michael R Bristow, Charles F McTiernan, Glenn S Gerhard, Hakon Hakonarson, Arthur M Feldm |
| 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 |
| Novel genomic variants influencing methotrexate delayed clearance in pediatric patients with acute lymphoblastic leukemia. Frontiers in pharmacology 2024 11 15 1480657. Jung Yoon Choi, Hoshik Kwon, Hyery Kim, Kyung Taek Hong, Youngeun Ma, Kyung-Nam Koh, Sunmin Yun, Keon Hee Yoo, Sang Hoon Song, Ho Joon Im, Ju Han Kim, Hyoung Jin Ka |
| 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 |
| Extrafollicular CD19CXCR5CD11c double negative 3 (DN3) B cells are significantly associated with disease activity in females with systemic lupus erythematosus. Journal of translational autoimmunity 2024 10 9 100252. Carlo Chizzolini, Jean-Charles Guery, Fanny Noulet, Lyssia Gruaz, Claire Cenac, Loredana Frasca, David Spoerl, Lionel Arlettaz, Alice Horisberger, Camillo Ribi, Stéphanie Hugu |
| Huntington's disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration. Journal of neurology, neurosurgery, and psychiatry 2024 10 . Carolin Anna Maria Koriath, Fernando Guntoro, Penelope Norsworthy, Egor Dolzhenko, Michael Eberle, Davina J Hensman Moss, Michael Flower, Holger Hummerich, Anne Elizabeth Rosser, Sarah J Tabrizi, Simon Mead, Edward J Wi |
| 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 |
| Associations of blood-based biomarkers of neurodegenerative diseases with mortality, cardio- and cerebrovascular events in persons with chronic coronary syndrome. Experimental gerontology 2025 1 200 112684. Valerie Lohner, Laura Perna, Ben Schöttker, Robert Perneczky, Hermann Brenner, Ute Mo |
- Page last reviewed:Feb 1, 2024
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