Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 104 Records) |
| Query Trace: Huntington disease[original query] |
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| 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 |
| Investigation on modulation of DNA repair pathways in Chinese MJD patients. Neurobiology of aging 2018 Jun . Wang Chunrong, Chen Zhao, Peng Huirong, Peng Yun, Zhou Xin, Yang Huihua, Wang Puzhi, Li Tianjiao, Hou Xiaocan, Qiu Rong, Xia Kun, Sequeiros Jorge, Tang Beisha, Jiang Ho |
| A study of Huntington disease-like syndromes in black South African patients reveals a single SCA2 mutation and a unique distribution of normal alleles across five repeat loci. Journal of the neurological sciences 2018 Jul 390 200-204. Baine Fiona K, Peerbhai Nabeelah, Krause Aman |
| Multiple system atrophy and CAG repeat length: A genetic screening of polyglutamine disease genes in Italian patients. Neuroscience letters 2018 5 678 37-42. Mongelli Alessia, Sarro Lidia, Rizzo Elena, Nanetti Lorenzo, Meucci Nicoletta, Pezzoli Gianni, Goldwurm Stefano, Taroni Franco, Mariotti Caterina, Gellera Cinz |
| Association Between Body Mass Index and Disease Severity in Chinese Spinocerebellar Ataxia Type 3 Patients. Cerebellum (London, England) 2018 2 17 (4): 494-498. Yang Jin-Shan, Chen Ping-Ping, Lin Min-Ting, Qian Mei-Zhen, Lin Hui-Xia, Chen Xiao-Ping, Shang Xian-Jin, Wang Dan-Ni, Chen Yu-Chao, Jiang Bin, Chen Yi-Jun, Wang Ning, Chen Wan-Jin, Gan Shi-R |
| The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2018 Feb . Kay Chris, Collins Jennifer A, Wright Galen E B, Baine Fiona, Miedzybrodzka Zosia, Aminkeng Folefac, Semaka Alicia J, McDonald Cassandra, Davidson Mark, Madore Steven J, Gordon Erynn S, Gerry Norman P, Cornejo-Olivas Mario, Squitieri Ferdinando, Tishkoff Sarah, Greenberg Jacquie L, Krause Amanda, Hayden Michael |
| 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 |
| Molecular analysis and prevalence of Huntington disease in northwestern Iran. Turkish journal of medical sciences 2018 1 47 (6): 1880-1884. Shekari Khaniani Mahmoud, Aob Parisa, Ranjouri Mohammadreza, Mansoori Derakhsan Si |
| 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 |
| Dynamic functional network connectivity in Huntington's disease and its associations with motor and cognitive measures. Human brain mapping 2019 1 40 (6): 1955-1968. Espinoza Flor A, Liu Jingyu, Ciarochi Jennifer, Turner Jessica A, Vergara Victor M, Caprihan Arvind, Misiura Maria, Johnson Hans J, Long Jeffrey D, Bockholt Jeremy H, Paulsen Jane S, Calhoun Vince |
| Screening for the C9ORF72 expansion in Greek Huntington Disease phenocopies and controls and meta-analysis of current data. Tremor and other hyperkinetic movements (New York, N.Y.) 2020 8 10 5. Rikos Dimitrios, Marogianni Chrysoula, Provatas Antonios, Bourinaris Thomas, Arnaoutoglou Marianthi, Stathis Pantelis, Patrinos George P, Dardiotis Efthimios, Hadjigeorgiou George M, Xiromerisiou Georg |
| 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 |
| Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects. American journal of human genetics 2020 6 107 (1): 96-110. Kim Kyung-Hee, Hong Eun Pyo, Shin Jun Wan, Chao Michael J, Loupe Jacob, Gillis Tammy, Mysore Jayalakshmi S, Holmans Peter, Jones Lesley, Orth Michael, Monckton Darren G, Long Jeffrey D, Kwak Seung, Lee Ramee, Gusella James F, MacDonald Marcy E, Lee Jong-M |
| 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 |
| Effect of Body Weight on Age at Onset in Huntington Disease: A Mendelian Randomization Study. Neurology. Genetics 2021 7 7 (4): e603. van der Burg Jorien M M, Weydt Patrick, Landwehrmeyer Georg Bernhard, Aziz N Ahm |
| Late-onset Huntington disease: An Italian cohort. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2021 3 86 58-63. Volpi Eleonora, Terenzi Federica, Bagnoli Silvia, Latorraca Stefania, Nacmias Benedetta, Sorbi Sandro, Piacentini Silvia, Ferrari Camil |
| Plasma neurofilament light chain predicts cerebellar atrophy and clinical progression in spinocerebellar ataxia. Neurobiology of disease 2021 2 153 105311. Coarelli Giulia, Darios Frederic, Petit Emilien, Dorgham Karim, Adanyeguh Isaac, Petit Elodie, Brice Alexis, Mochel Fanny, Durr Alexand |
| 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 |
| Expanding the spectrum of C9ORF72-related neurodegenerative disorders in the Greek population. Journal of the neurological sciences 2022 10 442 120450. Kartanou Chrisoula, Kontogeorgiou Zoi, Rentzos Michail, Potagas Constantin, Aristeidou Stavroula, Kapaki Elisabeth, Paraskevas George P, Constantinides Vasilios C, Stefanis Leonidas, Papageorgiou Sokratis G, Houlden Henry, Panas Marios, Koutsis Georgios, Karadima Georg |
| 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 |
| Spinocerebellar ataxia type 10 and Huntington disease-like 2 in Venezuela: Further evidence of two different ancestral founder effects. Annals of human genetics 2024 8 . Irene Paradisi, Sergio Arias, Vassiliki Ikono |
- Page last reviewed:Feb 1, 2024
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