Human Genome Epidemiology Literature Finder
|
Records 1 - 30 (of 35 Records) |
| Query Trace: Huntington Disease and HTT[original query] |
|---|
| PGC-1alpha downstream transcription factors NRF-1 and TFAM are genetic modifiers of Huntington disease. Molecular neurodegeneration 2011 6 (1): 32. Taherzadeh-Fard Elahe, Saft Carsten, Akkad Denis A, Wieczorek Stefan, Haghikia Aiden, Chan Andrew, Epplen Jörg T, Arning Laris |
| Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. American journal of human genetics 2012 Mar 90 (3): 434-44. Lee Jong-Min, Gillis Tammy, Mysore Jayalakshmi Srinidhi, Ramos Eliana Marisa, Myers Richard H, Hayden Michael R, Morrison Patrick J, Nance Martha, Ross Christopher A, Margolis Russell L, Squitieri Ferdinando, Griguoli Annamaria, Di Donato Stefano, Gomez-Tortosa Estrella, Ayuso Carmen, Suchowersky Oksana, Trent Ronald J, McCusker Elizabeth, Novelletto Andrea, Frontali Marina, Jones Randi, Ashizawa Tetsuo, Frank Samuel, Saint-Hilaire Marie-Helene, Hersch Steven M, Rosas Herminia D, Lucente Diane, Harrison Madaline B, Zanko Andrea, Abramson Ruth K, Marder Karen, Sequeiros Jorge, MacDonald Marcy E, Gusella James |
| High frequency of intermediate alleles on Huntington disease-associated haplotypes in British Columbia's general population. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2013 Dec 162B (8): 864-71. Semaka Alicia, Kay Chris, Doty Crystal N, Collins Jennifer A, Tam Natalie, Hayden Michael |
| The impact of single-nucleotide polymorphisms (SNPs) in OGG1 and XPC on the age at onset of Huntington disease. Mutation research 2013 Aug 755 (2): 115-9. Berger Frédérique, Vaslin Laurence, Belin Lisa, Asselain Bernard, Forlani Sylvie, Humbert Sandrine, Durr Alexandra, Hall Jan |
| CNR1 variation is associated with the age at onset in Huntington disease. European journal of medical genetics 2013 Aug 56 (8): 416-9. Kloster Eugen, Saft Carsten, Epplen Jörg T, Arning Laris |
| Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes. European journal of human genetics : EJHG 2013 Oct 21 (10): 1120-7. Baine Fiona K, Kay Chris, Ketelaar Maria E, Collins Jennifer A, Semaka Alicia, Doty Crystal N, Krause Amanda, Greenberg L Jacquie, Hayden Michael |
| Clinical and genetic features of Huntington disease in Sri Lanka. BMC neurology 2013 Dec 13 (1): 1. Sumathipala DS, Jayasekara RW, Dissanayake VH |
| Association of age at onset in Huntington disease with functional promoter variations in NPY and NPY2R. Journal of molecular medicine (Berlin, Germany) 2014 Feb 92 (2): 177-84. Kloster Eugen, Saft Carsten, Akkad Denis A, Epplen Jörg T, Arning Laris |
| C9orf72 expansion as a possible genetic cause of Huntington disease phenocopy syndrome. Journal of neurology 2014 Oct 261 (10): 1917-21. Kosti? Vladimir S, Dobri?i? Valerija, Stankovi? Iva, Rali? Vesna, Stefanova El |
| Sequence-Level Analysis of the Major European Huntington Disease Haplotype. American journal of human genetics 2015 Sep 97 (3): 435-44. Lee Jong-Min, Kim Kyung-Hee, Shin Aram, Chao Michael J, Abu Elneel Kawther, Gillis Tammy, Mysore Jayalakshmi Srinidhi, Kaye Julia A, Zahed Hengameh, Kratter Ian H, Daub Aaron C, Finkbeiner Steven, Li Hong, Roach Jared C, Goodman Nathan, Hood Leroy, Myers Richard H, MacDonald Marcy E, Gusella James |
| Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2015 Oct 168 (7): 573-85. Krause Amanda, Mitchell Claire, Essop Fahmida, Tager Susan, Temlett James, Stevanin Giovanni, Ross Christopher, Rudnicki Dobrila, Margolis Russe |
| Clinical manifestations of intermediate allele carriers in Huntington disease. Neurology 2016 Jul . Cubo Esther, Ramos-Arroyo María A, Martinez-Horta Saul, Martínez-Descalls Asunción, Calvo Sara, Gil-Polo Cecilia, |
| The targetable A1 Huntington disease haplotype has distinct Amerindian and European origins in Latin America. European journal of human genetics : EJHG 2016 Dec . Kay Chris, Tirado-Hurtado Indira, Cornejo-Olivas Mario, Collins Jennifer A, Wright Galen, Inca-Martinez Miguel, Veliz-Otani Diego, Ketelaar Maria E, Slama Ramy A, Ross Colin J, Mazzetti Pilar, Hayden Michael |
| Body weight is a robust predictor of clinical progression in Huntington disease. Annals of neurology 2017 Aug . van der Burg Jorien M M, Gardiner Sarah L, Ludolph Albert C, Landwehrmeyer G Bernhard, Roos Raymund A C, Aziz N Ahm |
| Huntingtin gene repeat size variations affect risk of lifetime depression. Translational psychiatry 2017 Dec 7 (12): 1277. Gardiner Sarah L, van Belzen Martine J, Boogaard Merel W, van Roon-Mom Willeke M C, Rozing Maarten P, van Hemert Albert M, Smit Johannes H, Beekman Aartjan T F, van Grootheest Gerard, Schoevers Robert A, Oude Voshaar Richard C, Roos Raymund A C, Comijs Hannie C, Penninx Brenda W J H, van der Mast Roos C, Aziz N Ahm |
| Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase. American journal of human genetics 2018 8 103 (3): 349-357. Long Jeffrey D, Lee Jong-Min, Aylward Elizabeth H, Gillis Tammy, Mysore Jayalakshmi Srinidhi, Abu Elneel Kawther, Chao Michael J, Paulsen Jane S, MacDonald Marcy E, Gusella James |
| DNA damage signatures in peripheral blood cells as biomarkers in prodromal huntington disease. Annals of neurology 2019 Feb 85 (2): 296-301. Castaldo Imma, De Rosa Mariarosaria, Romano Antonella, Zuchegna Candida, Squitieri Ferdinando, Mechelli Rosella, Peluso Silvio, Borrelli Cristiana, Del Mondo Angelo, Salvatore Elena, Vescovi Luigi Angelo, Migliore Simone, De Michele Giuseppe, Ristori Giovanni, Romano Silvia, Avvedimento Enrico Vittorio, Porcellini Anton |
| C9orf72 Repeat Expansion Frequency among Patients with Huntington Disease Genetic Testing. Neuro-degenerative diseases 2018 10 18 (5-6): 239-253. Ida Cristiane M, Butz Malinda L, Lundquist Patrick A, Dawson D Bri |
| HTT haplogroups in Finnish patients with Huntington disease. Neurology. Genetics 2019 5 5 (3): e334. Ylönen Susanna, Sipilä Jussi O T, Hietala Marja, Majamaa Ka |
| Prevalence of Carriers of Intermediate and Pathological Polyglutamine Disease-Associated Alleles Among Large Population-Based Cohorts. JAMA neurology 2019 Apr . Gardiner Sarah L, Boogaard Merel W, Trompet Stella, de Mutsert Renée, Rosendaal Frits R, Gussekloo Jacobijn, Jukema J Wouter, Roos Raymund A C, Aziz N Ahm |
| Clinical manifestations of homozygote allele carriers in Huntington disease. Neurology 2019 3 92 (18): e2101-e2108. Cubo Esther, Martinez-Horta Saul-Indra, Santalo Frederic Sampedro, Descalls Asunción Martínez, Calvo Sara, Gil-Polo Cecilia, Muñoz Ignacio, Llano Katia, Mariscal Natividad, Diaz Dolores, Gutierrez Aranzazu, Aguado Laura, Ramos-Arroyo María A, |
| A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes. EBioMedicine 2019 Oct . Ciosi Marc, Maxwell Alastair, Cumming Sarah A, Hensman Moss Davina J, Alshammari Asma M, Flower Michael D, Durr Alexandra, Leavitt Blair R, Roos Raymund A C, , , Holmans Peter, Jones Lesley, Langbehn Douglas R, Kwak Seung, Tabrizi Sarah J, Monckton Darren |
| 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 |
| 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 |
| Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2020 1 41 (6): 1475-1482. Mongelli Alessia, Magri Stefania, Salvatore Elena, Rizzo Elena, De Rosa Anna, Fico Tommasina, Gatti Marta, Gellera Cinzia, Taroni Franco, Mariotti Caterina, Nanetti Loren |
| 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 |
| 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 |
| 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 |
| 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 |
- Page last reviewed:Feb 1, 2024
- Content source: