HuGE Literature Finder
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Records 1-100
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Association Between Toll-Like Receptor 4 (TLR4) and Triggering Receptor Expressed on Myeloid Cells 2 (TREM2) Genetic Variants and Clinical Progression of Huntington's Disease.
Movement disorders : official journal of the Movement Disorder Society 2019 Nov . Vuono Romina, Kouli Antonina, Legault Emilie M, Chagnon Lauriane, Allinson Kieren S, La Spada Alberto, , Biunno Ida, Barker Roger A, Drouin-Ouellet Janel |
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Variation in DNA Repair System Gene as an Additional Modifier of Age at Onset in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease.
Neuromolecular medicine 2019 Oct . Mergener Rafaella, Furtado Gabriel Vasata, de Mattos Eduardo Preusser, Leotti Vanessa Bielefeldt, Jardim Laura Bannach, Saraiva-Pereira Maria Lui |
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Haplotype analysis encompassing HTT gene in Chinese patients with Huntington's disease.
European journal of neurology 2019 Aug . Li Xiao-Yan, Li Hong-Lei, Dong Yi, Gao Bin, Cheng Hong-Rong, Ni Wang, Gan Shi-Rui, Liu Zhi-Jun, Burgunder Jean-Marc, Wu Zhi-Yi |
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Rare homozygosity in amyotrophic lateral sclerosis suggests the contribution of recessive variants to disease genetics.
Journal of the neurological sciences 2019 May 402 62-68. Goldstein Orly, Kedmi Merav, Gana-Weisz Mali, Twito Shir, Nefussy Beatrice, Vainer Batel, Fainmesser Yaara, Abraham Alon, Nayshool Omri, Orr-Urtreger Avi, Drory Vivian |
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Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.
International journal of molecular sciences 2019 Mar 20 (6): . Giau Vo Van, Senanarong Vorapun, Bagyinszky Eva, An Seong Soo A, Kim SangY |
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Effect of Apolipoprotein E Genotypes on Huntington's Disease Phenotypes in a Han Chinese Population.
Neuroscience bulletin 2019 Mar . Li Xiao-Yan, Zhang Yan-Bin, Xu Miao, Cheng Hong-Rong, Dong Yi, Ni Wang, Li Hong-Lei, Wu Zhi-Yi |
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HTT gene intermediate alleles in neurodegeneration: evidence for association with Alzheimer's disease.
Neurobiology of aging 2019 04 76 215.e9-215.e14. Menéndez-González Manuel, Clarimón Jordi, Rosas-Allende Irene, Blázquez Marta, San Martín Esther Suárez, García-Fernández Ciara, Lleó Alberto, Dols-Icardo Oriol, Illán-Gala Ignacio, Morís Germán, Ribacoba Renée, Álvarez Victoria, Martínez Carm |
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High and Low Levels of an NTRK2-Driven Genetic Profile Affect Motor- and Cognition-Associated Frontal Gray Matter in Prodromal Huntington's Disease.
Brain sciences 2018 Jun 8 (7): . Ciarochi Jennifer A, Liu Jingyu, Calhoun Vince, Johnson Hans, Misiura Maria, Bockholt H Jeremy, Espinoza Flor A, Caprihan Arvind, Plis Sergey, Turner Jessica A, Paulsen Jane S, |
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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 |
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A Genetic Study of Psychosis in Huntington's Disease: Evidence for the Involvement of Glutamate Signaling Pathways.
Journal of Huntington's disease 2018 7 (1): 51-59. Tsuang Debby W, Greenwood Tiffany A, Jayadev Suman, Davis Marie, Shutes-David Andrew, Bird Thomas |
Population-specific genetic modification of Huntington's disease in Venezuela.
PLoS genetics 2018 05 14 (5): e1007274. Chao Michael J, Kim Kyung-Hee, Shin Jun Wan, Lucente Diane, Wheeler Vanessa C, Li Hong, Roach Jared C, Hood Leroy, Wexler Nancy S, Jardim Laura B, Holmans Peter, Jones Lesley, Orth Michael, Kwak Seung, MacDonald Marcy E, Gusella James F, Lee Jong-M |
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The Effect of Predictive Testing in Adult-Onset Neurodegenerative Diseases on Social and Personal Life.
Journal of genetic counseling 2018 08 27 (4): 947-954. Cohn-Hokke Petra E, van Swieten John C, Pijnenburg Yolande A L, Tibben Aad, Meijers-Heijboer Hanne, Kievit Anne |
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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 |
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Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study.
The Lancet. Neurology 2017 Jun . Moss Davina J Hensman, Pardiñas Antonio F, Langbehn Douglas, Lo Kitty, Leavitt Blair R, Roos Raymund, Durr Alexandra, Mead Simon, , , Holmans Peter, Jones Lesley, Tabrizi Sarah |
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Genome-wide network-based pathway analysis of CSF t-tau/A?1-42 ratio in the ADNI cohort.
BMC genomics 2017 May 18 (1): 421. Cong Wang, Meng Xianglian, Li Jin, Zhang Qiushi, Chen Feng, Liu Wenjie, Wang Ying, Cheng Sipu, Yao Xiaohui, Yan Jingwen, Kim Sungeun, Saykin Andrew J, Liang Hong, Shen Li, |
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Study of the Huntington's disease IT-15 gene in different ethnic groups in Ecuador.
Clinical genetics 2017 Apr . Paz-Y-Miño César, Salazar Carolina, García-Cárdenas Jennyfer M, Cabrera-Andrade Alejandro, López-Cortés Andrés, Pavón-Realpe Víctor H, Eras Estefanía, Rodriguez P Carla, Domínguez Enríquez Juan P, Cusco Cuzco Cristian D, Navarrete Socasi Diana C, Leone Paola |
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Identification of Risk Pathways and Functional Modules for Coronary Artery Disease Based on Genome-wide SNP Data.
Genomics, proteomics & bioinformatics 2016 Dec . Zhao Xiang, Luan Yi-Zhao, Zuo Xiaoyu, Chen Ye-Da, Qin Jiheng, Jin Lv, Tan Yiqing, Lin Meihua, Zhang Naizun, Liang Yan, Rao Shao- |
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The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington's Disease Patients.
Molecular neurobiology 2016 Dec . Tell-Marti Gemma, Puig-Butille Joan Anton, Gimenez-Xavier Pol, Segu-Roig Ariadna, Potrony Miriam, Badenas Celia, Alvarez Victoria, Millán José M, Trujillo-Tiebas María José, Ramos-Arroyo María A, Milà Montserrat, Puig Susa |
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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 |
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Genetic variation associated with the occurrence and progression of neurological disorders.
Neurotoxicology 2016 Oct . Little Julian, Barakat-Haddad Caroline, Martino Rosemary, Pringsheim Tamara, Tremlett Helen, McKay Kyla A, van Lieshout Pascal, Walsh Stephanie J, Gomes James, Krewski Dani |
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Personality traits in Huntington's disease: An exploratory study of gene expansion carriers and non-carriers.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2016 Oct . Larsen Ida Unmack, Mortensen Erik Lykke, Vinther-Jensen Tua, Nielsen Jørgen Erik, Knudsen Gitte Moos, Vogel Asm |
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Genome-wide association study of pathological gambling.
European psychiatry : the journal of the Association of European Psychiatrists 2016 Aug 36 38-46. Lang M, Leménager T, Streit F, Fauth-Bühler M, Frank J, Juraeva D, Witt S H, Degenhardt F, Hofmann A, Heilmann-Heimbach S, Kiefer F, Brors B, Grabe H-J, John U, Bischof A, Bischof G, Völker U, Homuth G, Beutel M, Lind P A, Medland S E, Slutske W S, Martin N G, Völzke H, Nöthen M M, Meyer C, Rumpf H-J, Wurst F M, Rietschel M, Mann K |
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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, |
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Cerebrospinal fluid total tau concentration predicts clinical phenotype in Huntington's disease.
Journal of neurochemistry 2016 Jun . Rodrigues Filipe Brogueira, Byrne Lauren, McColgan Peter, Robertson Nicola, Tabrizi Sarah J, Leavitt Blair R, Zetterberg Henrik, Wild Edward |
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Globus pallidus degeneration and clinico-pathological features of Huntington's disease.
Annals of neurology 2016 Jun . Singh-Bains Malvindar K, Tippett Lynette J, Hogg Virginia M, Synek Beth J, Roxburgh Richard H, Waldvogel Henry J, Faull Richard L |
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Huntington disease reduced penetrance alleles occur at high frequency in the general population.
Neurology 2016 Jun . Kay Chris, Collins Jennifer A, Miedzybrodzka Zosia, Madore Steven J, Gordon Erynn S, Gerry Norman, Davidson Mark, Slama Ramy A, Hayden Michael |
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DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.
Annals of neurology 2016 Apr . Bettencourt Conceição, Moss Davina Hensman, Flower Michael, Wiethoff Sarah, Brice Alexis, Goizet Cyril, Stevanin Giovanni, Koutsis Georgios, Karadima Georgia, Panas Marios, Yescas-Gómez Petra, García-Velázquez Lizbeth Esmeralda, Alonso-Vilatela María Elisa, Lima Manuela, Raposo Mafalda, Traynor Bryan, Sweeney Mary, Wood Nicholas, Giunti Paola, , Durr Alexandra, Holmans Peter, Houlden Henry, Tabrizi Sarah J, Jones Lesl |
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A GABBR2 gene variant modifies pathophysiology in Huntington's disease.
Neuroscience letters 2016 Mar 620 8-13. Philpott April L, Fitzgerald Paul B, Bailey Neil W, Churchyard Andrew, Georgiou-Karistianis Nellie, Cummins Tarrant D |
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CAG repeat size in Huntingtin alleles is associated with cancer prognosis.
European journal of human genetics : EJHG 2016 Mar . Thion Morgane Sonia, Tézenas du Montcel Sophie, Golmard Jean-Louis, Vacher Sophie, Barjhoux Laure, Sornin Valérie, Cazeneuve Cécile, Bièche Ivan, Sinilnikova Olga, Stoppa-Lyonnet Dominique, Durr Alexandra, Humbert Sandri |
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Allele-specific reduction of the mutant huntingtin allele using transcription activator-like effectors in human Huntington's disease fibroblasts.
Cell transplantation 2016 Feb . Fink Kyle D, Deng Peter, Gutierrez Josh, Anderson Joseph S, Torrest Audrey, Komarla Anvita, Kalomoiris Stefanos, Cary Whitney, Anderson Johnathon D, Gruenloh William, Duffy Alexandra, Tempkin Teresa, Wheelock Vicki, Segal David J, Nolta Jan |
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Genomic Instability Associated with p53 Knockdown in the Generation of Huntington's Disease Human Induced Pluripotent Stem Cells.
PloS one 2016 11 (3): e0150372. Tidball Andrew M, Neely M Diana, Chamberlin Reed, Aboud Asad A, Kumar Kevin K, Han Bingying, Bryan Miles R, Aschner Michael, Ess Kevin C, Bowman Aaron |
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The global prevalence of Huntington's disease: a systematic review and discussion.
Neurodegenerative disease management 2016 08 6 (4): 331-43. Baig Sheharyar Sajjad, Strong Mark, Quarrell Oliver |
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Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials.
JAMA neurology 2015 Nov 1-9. , Biglan Kevin Michael, Shoulson Ira, Kieburtz Karl, Oakes David, Kayson Elise, Shinaman M Aileen, Zhao Hongwei, Romer Megan, Young Anne, Hersch Steven, Penney Jack, Marder Karen, Paulsen Jane, Quaid Kimberly, Siemers Eric, Tanner Caroline, Mallonee William, Suter Greg, Dubinsky Richard, Gray Carolyn, Nance Martha, Bundlie Scott, Radtke Dawn, Kostyk Sandra, Baic Corrine, Caress James, Walker Francis, Hunt Victoria, O'Neill Christine, Chouinard Sylvain, Factor Stewart, Greenamyre Timothy, Wood-Siverio Cathy, Corey-Bloom Jody, Song David, Peavy Guerry, Moskowitz Carol, Wesson Melissa, Samii Ali, Bird Thomas, Lipe Hillary, Blindauer Karen, Marshall Frederick, Zimmerman Carol, Goldstein Jody, Rosas Diana, Novak Peter, Caviness John, Adler Charles, Duffy Amy, Wheelock Vicki, Tempkin Teresa, Richman David, Seeberger Lauren, Albin Roger, Chou Kelvin L, Racette Brad, Perlmutter Joel S, Perlman Susan, Bordelon Yvette, Martin Wayne, Wieler Marguerite, Leavitt Blair, Raymond Lynn, Decolongon Joji, Clarke Lorne, Jankovic Joseph, Hunter Christine, Hauser Robert A, Sanchez-Ramos Juan, Furtado Sarah, Suchowersky Oksana, Klimek Mary Lou, Guttman Mark, Sethna Rustom, Feigin Andrew, Cox Marie, Shannon Barbara, Percy Alan, Dure Leon, Harrison Madaline, Johnson William, Higgins Donald, Molho Eric, Nickerson Constance, Evans Sharon, Hobson Douglas, Singer Carlos, Galvez-Jimenez Nestor, Shannon Kathleen, Comella Cynthia, Ross Christopher, Saint-Hilaire Marie H, Testa Claudia, Rosenblatt Adam, Hogarth Penelope, Weiner William, Como Peter, Kumar Rajeev, Cotto Candace, Stout Julie, Brocht Alicia, Watts Arthur, Eberly Shirley, Weaver Christine, Foroud Tatiana, Gusella James, MacDonald Marcy, Myers Richard, Fahn Stanley, Shults Cliffo |
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Expression of RNAs Coding for Metal Transporters in Blood of Patients with Huntington's Disease.
Neurochemical research 2015 Oct . Szeliga Monika, Ró?ycka Aleksandra, J?drak Paulina, Bara?ska Sylwia, Janik Piotr, Jamrozik Zygmunt, Albrecht J |
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Factor analysis of the hospital anxiety and depression scale among a Huntington's disease population.
Movement disorders : official journal of the Movement Disorder Society 2015 Oct . Dale Maria, Maltby John, Martucci Rossana, Shimozaki Steve, |
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Huntington's disease biomarker progression profile identified by transcriptome sequencing in peripheral blood.
European journal of human genetics : EJHG 2015 Oct 23 (10): 1349-56. Mastrokolias Anastasios, Ariyurek Yavuz, Goeman Jelle J, van Duijn Erik, Roos Raymund Ac, van der Mast Roos C, van Ommen GertJan B, den Dunnen Johan T, 't Hoen Peter Ac, van Roon-Mom Willeke |
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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 |
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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 |
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The Genetic Modifiers of Motor OnsetAge (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington's Disease.
Journal of Huntington's disease 2015 Sep 4 (3): 279-84. Correia Kevin, Harold Denise, Kim Kyung-Hee, Holmans Peter, Jones Lesley, Orth Michael, Myers Richard H, Kwak Seung, Wheeler Vanessa C, MacDonald Marcy E, Gusella James F, Lee Jong-M |
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Usage of mitochondrial D-loop variation to predict risk for Huntington disease.
Mitochondrial DNA 2015 Aug 26 (4): 579-82. Mousavizadeh Kazem, Rajabi Peyman, Alaee Mahsa, Dadgar Sepideh, Houshmand Masso |
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The role of tau in the pathological process and clinical expression of Huntington's disease.
Brain : a journal of neurology 2015 Jul 138 (Pt 7): 1907-18. Vuono Romina, Winder-Rhodes Sophie, de Silva Rohan, Cisbani Giulia, Drouin-Ouellet Janelle, , Spillantini Maria G, Cicchetti Francesca, Barker Roger |
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Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder.
Bipolar disorders 2015 Jun 17 (4): 403-8. Ramos Eliana Marisa, Gillis Tammy, Mysore Jayalakshmi S, Lee Jong-Min, Alonso Isabel, Gusella James F, Smoller Jordan W, Sklar Pamela, MacDonald Marcy E, Perlis Roy |
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Psychiatric and cognitive symptoms in Huntington's disease are modified by polymorphisms in catecholamine regulating enzyme genes.
Clinical genetics 2015 Jun . Vinther-Jensen T, Nielsen T T, Budtz-Jørgensen E, Larsen I U, Hansen M M, Hasholt L, Hjermind L E, Nielsen J E, Nørremølle |
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Molecular characterization of genes modifying the age at onset in Huntington's Disease in Uruguayan patients.
The International journal of neuroscience 2015 May 1-17. Vital Marcelo, Bidegain Estela, Raggio Victor, Esperon Patric |
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Prevalent polymorphism in thyroid hormone-activating enzyme leaves a genetic fingerprint that underlies associated clinical syndromes.
The Journal of clinical endocrinology and metabolism 2015 Mar 100 (3): 920-33. McAninch Elizabeth A, Jo Sungro, Preite Nailliw Z, Farkas Erzsébet, Mohácsik Petra, Fekete Csaba, Egri Péter, Gereben Balázs, Li Yan, Deng Youping, Patti Mary-Elizabeth, Zevenbergen Chantal, Peeters Robin P, Mash Deborah C, Bianco Antonio |
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Factors influencing the clinical expression of intermediate CAG repeat length mutations of the Huntington's disease gene.
Journal of neurology 2015 Feb 262 (2): 277-84. Panegyres Peter K, Shu Chen-Chun, Chen Huei-Yang, Paulsen Jane |
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C9ORF72 hexanucleotide repeat expansions are a frequent cause of Huntington disease phenocopies in the Greek population.
Neurobiology of aging 2015 Jan 36 (1): 547.e13-6. Koutsis Georgios, Karadima Georgia, Kartanou Chrisoula, Kladi Athina, Panas Mari |
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A Study of a Geographical Cluster of Huntington's Disease in a Brazilian Town of Zona da Mata, Minas Gerais State.
European neurology 2015 74 (1-2): 62-8. Agostinho Luciana de Andrade, da Silva Iane Dos Santos, Maia Lorena Agostini, Azevedo Mariana de Almeida, Faria Távia Muniz Ribeiro de Oliveira, Apolinario Thays Andrade, Pereira Simão Pedro, Reis Rafael de Lima, Dos Santos Suely Rodrigues, Paiva Carmen Lúcia Ant |
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The Genetic Link between Parkinson's Disease and the Kynurenine Pathway Is Still Missing.
Parkinson's disease 2015 2015 474135. Török Nóra, Török Rita, Szolnoki Zoltán, Somogyvári Ferenc, Klivényi Péter, Vécsei Lász |
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C9ORF72 repeat expansion is not a significant cause of late onset cerebellar ataxia syndrome.
Journal of the neurological sciences 2014 Dec 347 (1-2): 322-4. Hsiao Cheng-Tsung, Tsai Pei-Chien, Liao Yi-Chu, Lee Yi-Chung, Soong Bing-W |
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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 |
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Alpha-theta border EEG abnormalities in preclinical Huntington's disease.
Journal of the neurological sciences 2014 Sep 344 (1-2): 114-20. Ponomareva Natalya, Klyushnikov Sergey, Abramycheva Natalya, Malina Daria, Scheglova Nadejda, Fokin Vitaly, Ivanova-Smolenskaia Irina, Illarioshkin Serg |
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Acute-phase proteins in relation to neuropsychiatric symptoms and use of psychotropic medication in Huntington's disease.
European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology 2014 Aug 24 (8): 1248-56. Bouwens J A, Hubers A A M, van Duijn E, Cobbaert C M, Roos R A C, van der Mast R C, Giltay E |
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Copy-number variation of the neuronal glucose transporter gene SLC2A3 and age of onset in Huntington's disease.
Human molecular genetics 2014 Jun 23 (12): 3129-37. Vittori Angelica, Breda Carlo, Repici Mariaelena, Orth Michael, Roos Raymund A C, Outeiro Tiago F, Giorgini Flaviano, Hollox Edward J, |
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Huntingtin gene CAG repeat numbers in Chinese patients with Huntington's disease and controls.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2014 Apr 21 (4): 637-42. Jiang H, Sun Y M, Hao Y, Yan Y P, Chen K, Xin S H, Tang Y P, Li X H, Jun T, Chen Y Y, Liu Z J, Wang C R, Li H, Pei Z, Shang H F, Zhang B R, Gu W H, Wu Z Y, Tang B S, Burgunder J-M, |
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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 |
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C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies.
Neurology 2014 Jan 82 (4): 292-9. Hensman Moss Davina J, Poulter Mark, Beck Jon, Hehir Jason, Polke James M, Campbell Tracy, Adamson Garry, Mudanohwo Ese, McColgan Peter, Haworth Andrea, Wild Edward J, Sweeney Mary G, Houlden Henry, Mead Simon, Tabrizi Sarah |
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Preliminary investigation of the influence of CREB1 gene polymorphisms on cognitive dysfunction in Chinese patients with major depression.
The International journal of neuroscience 2014 Jan 124 (1): 22-9. Guo Junhui, Liu Zhongchun, Dai Hong, Zhu Zhixian, Wang Huiling, Yang Can, Xiao Ling, Huang Yonglan, Wang Gaoh |
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A single nucleotide polymorphism in the coding region of PGC-1? is a male-specific modifier of Huntington disease age-at-onset in a large European cohort.
BMC neurology 2014 14 1. Weydt Patrick, Soyal Selma M, Landwehrmeyer G Bernhard, Patsch Wolfgang, |
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Modulation at age of onset in tunisian huntington disease patients: implication of new modifier genes.
Genetics research international 2014 2014 210418. Hmida-Ben Brahim Dorra, Chourabi Marwa, Ben Amor Sana, Harrabi Imed, Trabelsi Saoussen, Haddaji-Mastouri Marwa, Gribaa Moez, Sassi Sihem, Gahbiche Fatma Ezzahra, Lamouchi Turkia, Mougou-Zereli Soumaya, Ben Ammou Sofiane, Saad A |
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Clinical and genetic features of Huntington disease in Sri Lanka.
BMC neurology 2013 Dec 13 (1): 1. Sumathipala DS, Jayasekara RW, Dissanayake VH |
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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 |
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Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset.
Neurogenetics 2013 Nov 14 (3-4): 173-9. Ramos Eliana Marisa, Latourelle Jeanne C, Gillis Tammy, Mysore Jayalakshmi S, Squitieri Ferdinando, Di Pardo Alba, Di Donato Stefano, Gellera Cinzia, Hayden Michael R, Morrison Patrick J, Nance Martha, Ross Christopher A, Margolis Russell L, 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, Gusella James F, Lee Jong-Min, Alonso Isabel, Sequeiros Jorge, Myers Richard H, Macdonald Marcy |
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Modelling and inference reveal nonlinear length-dependent suppression of somatic instability for small disease associated alleles in myotonic dystrophy type 1 and Huntington disease.
Journal of the Royal Society, Interface / the Royal Society 2013 Nov 10 (88): 20130605. Higham Catherine F, Monckton Darren |
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CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease.
Journal of medical genetics 2013 Oct 50 (10): 696-703. Semaka Alicia, Kay Chris, Doty Crystal, Collins Jennifer A, Bijlsma Emilia K, Richards Fiona, Goldberg Y Paul, Hayden Michael |
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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 |
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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 |
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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 |
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Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS.
Neurology 2013 May 80 (22): 2022-7. Killoran Annie, Biglan Kevin M, Jankovic Joseph, Eberly Shirley, Kayson Elise, Oakes David, Young Anne B, Shoulson I |
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?-Defensin Genomic Copy Number Does Not Influence the Age of Onset in Huntington's Disease.
Journal of Huntington's disease 2013 Mar 2 (1): 107-124. Vittori Angelica, Orth Michael, Roos Raymund A C, Outeiro Tiago F, Giorgini Flaviano, Hollox Edward J, |
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Insulin sensitivity and early-phase insulin secretion in normoglycemic Huntington's disease patients.
Journal of Huntington's disease 2013 2 (4): 501-7. Russo Cinzia V, Salvatore Elena, Saccà Francesco, Tucci Tecla, Rinaldi Carlo, Sorrentino Pierpaolo, Massarelli Marco, Rossi Fabiana, Savastano Silvia, Di Maio Luigi, Filla Alessandro, Colao Annamaria, De Michele Giusep |
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The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients.
PloS one 2013 8 (7): e68951. Metzger Silke, Walter Carolin, Riess Olaf, Roos Raymund A C, Nielsen Jørgen E, Craufurd David, , Nguyen Huu Ph |
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Haplotype analysis of the CAG and CCG repeats in 21 Brazilian families with Huntington's disease.
Journal of human genetics 2012 Dec 57 (12): 796-803. Agostinho Luciana de A, Rocha Catielly F, Medina-Acosta Enrique, Barboza Hazel N, da Silva Antônio F Alves, Pereira Simão P F, da Silva Iane Dos Santos, Paradela Eduardo R, Figueiredo André L dos S, Nogueira Eduardo de M, Alvarenga Regina M P, Hernan Cabello Pedro, dos Santos Suely R, Paiva Carmen L |
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Population stratification may bias analysis of PGC-1? as a modifier of age at Huntington disease motor onset.
Human genetics 2012 Dec 131 (12): 1833-40. Ramos Eliana Marisa, Latourelle Jeanne C, Lee Ji-Hyun, Gillis Tammy, Mysore Jayalakshmi S, Squitieri Ferdinando, Di Pardo Alba, Di Donato Stefano, Hayden Michael R, Morrison Patrick J, Nance Martha, Ross Christopher A, Margolis Russell L, 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, Marder Karen, Gusella James F, Lee Jong-Min, Alonso Isabel, Sequeiros Jorge, Myers Richard H, Macdonald Marcy |
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Age at onset in Huntington's disease: replication study on the association of HAP1.
Parkinsonism & related disorders 2012 Nov 18 (9): 1027-8. Karadima Georgia, Dimovasili Christina, Koutsis Georgios, Vassilopoulos Demetris, Panas Mari |
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TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease.
Biochemical and biophysical research communications 2012 Aug 424 (3): 404-8. Lee Ji-Hyun, Lee Jong-Min, Ramos Eliana Marisa, Gillis Tammy, Mysore Jayalakshmi S, Kishikawa Shotaro, Hadzi Tiffany, Hendricks Audrey E, Hayden Michael R, Morrison Patrick J, Nance Martha, Ross Christopher A, Margolis Russell L, Squitieri Ferdinando, Gellera Cinzia, 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, Landwehrmeyer G Bernhard, , Shoulson Ira, , Myers Richard H, MacDonald Marcy E, Gusella James |
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Chinese patients with Huntington's disease initially presenting with spinocerebellar ataxia.
Clinical genetics 2012 Jul 9999 (999A): 999A. Dong Y, Sun YM, Liu ZJ, Ni W, Shi SS, Wu ZY |
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Association study of cannabinoid receptor 1 (CNR1) gene in tardive dyskinesia.
The pharmacogenomics journal 2012 Jun 12 (3): 260-6. Tiwari A K, Zai C C, Likhodi O, Voineskos A N, Meltzer H Y, Lieberman J A, Potkin S G, Remington G, Müller D J, Kennedy J |
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Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients.
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 2012 May 13 (3): 265-9. Ramos Eliana Marisa, Keagle Pamela, Gillis Tammy, Lowe Patrick, Mysore Jayalakshmi S, Leclerc Ashley Lyn, Ratti Antonia, Ticozzi Nicola, Gellera Cinzia, Gusella James F, Silani Vincenzo, Alonso Isabel, Brown Robert H, MacDonald Marcy E, Landers John |
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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 |
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Clinical and genetic characteristics in patients with Huntington's Disease from Argentina.
Parkinsonism & related disorders 2012 Feb 18 (2): 166-9. Gatto Emilia, Parisi Virginia, Persi Gabriel, Converso Daniela Paola, Etcheverry José Luis, Varela Viviana, Lopez Ariel, Alba Liliana, Fretchel Gusta |
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NMDA receptor genotypes associated with the vulnerability to develop dyskinesia.
Translational psychiatry 2012 Feb 2 . Ivanova SA, Loonen AJ, Pechlivanoglou P, Freidin MB, Al Hadithy AF, Rudikov EV, Zhukova IA, Govorin NV, Sorokina VA, Fedorenko OY, Alifirova VM, Semke AV, Brouwers JR, Wilffert B |
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Potential endpoints for clinical trials in premanifest and early Huntington's disease in the TRACK-HD study: analysis of 24 month observational data.
The Lancet. Neurology 2012 Jan 11 (1): 42-53. Tabrizi Sarah J, Reilmann Ralf, Roos Raymund A C, Durr Alexandra, Leavitt Blair, Owen Gail, Jones Rebecca, Johnson Hans, Craufurd David, Hicks Stephen L, Kennard Christopher, Landwehrmeyer Bernhard, Stout Julie C, Borowsky Beth, Scahill Rachael I, Frost Chris, Langbehn Douglas R, |
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Genetic analysis of polymorphisms in the kalirin gene for association with age-at-onset in European Huntington disease patients.
BMC medical genetics 2012 13 (1): 48. Tsai Yu-Chun, Metzger Silke, Riess Olaf, Soehn Anne S, Nguyen Huu Ph |
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HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia.
European journal of human genetics : EJHG 2011 May 19 (5): 561-6. Warby Simon C, Visscher Henk, Collins Jennifer A, Doty Crystal N, Carter Catherine, Butland Stefanie L, Hayden Anna R, Kanazawa Ichiro, Ross Colin J, Hayden Michael |
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Seven-year clinical follow-up of premanifest carriers of Huntington's disease.
PLoS currents 2011 3 RRN1288. Hart Ellen, Middelkoop Huub, Jurgens Caroline K, Witjes-Ané Marie-Noëlle W, Roos Raymund A |
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The hOGG1 Ser326Cys polymorphism and Huntington's disease.
Toxicology 2010 Dec 278 (2): 199-203. Coppedè Fabio, Migheli Francesca, Ceravolo Roberto, Bregant Elisa, Rocchi Anna, Petrozzi Lucia, Unti Elisa, Lonigro Renata, Siciliano Gabriele, Migliore Luc |
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Evidence for a predisposing background for CAG expansion leading to HTT mutation in a Chinese population.
Journal of the neurological sciences 2010 Nov 298 (1-2): 57-60. Ma Mingyi, Yang Yuan, Shang Huifang, Su Dan, Zhang Hao, Ma Yongxin, Liu Yunqiang, Tao Dachang, Zhang Sizho |
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Systemic energy homeostasis in Huntington's disease patients.
Journal of neurology, neurosurgery, and psychiatry 2010 Nov 81 (11): 1233-7. Aziz N Ahmad, Pijl Hanno, Frölich Marijke, Snel Marieke, Streefland Trea C M, Roelfsema Ferdinand, Roos Raymund A |
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Age at onset in Huntington's disease is modified by the autophagy pathway: implication of the V471A polymorphism in Atg7.
Human genetics 2010 Oct 128 (4): 453-9. Metzger Silke, Saukko Meiju, Van Che Hong, Tong Liang, Puder Yvonne, Riess Olaf, Nguyen Huu Ph |
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Age at onset in Huntington's disease: replication study on the associations of ADORA2A, HAP1 and OGG1.
Neurogenetics 2010 Oct 11 (4): 435-9. Taherzadeh-Fard Elahe, Saft Carsten, Wieczorek Stefan, Epplen Jörg T, Arning Laris |
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Dissociable influences of NR2B-receptor related neural transmission on functions of distinct associative basal ganglia circuits.
NeuroImage 2010 Aug 52 (1): 309-15. Beste Christian, Baune Bernhard T, Domschke Katharina, Falkenstein Michael, Konrad Carst |
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A double blind evaluation of cognitive decline in a Norwegian cohort of asymptomatic carriers of Huntington's disease.
Journal of clinical and experimental neuropsychology 2010 Jul 32 (6): 590-8. van Walsem Marleen R, Sundet Kjetil, Retterstøl Lars, Sundseth Øyvi |
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Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder.
The American journal of psychiatry 2010 May 167 (5): 574-9. Perlis Roy H, Smoller Jordan W, Mysore Jayalakshmi, Sun Mei, Gillis Tammy, Purcell Shaun, Rietschel Marcella, Nöthen Markus M, Witt Stephanie, Maier Wolfgang, Iosifescu Dan V, Sullivan Patrick, Rush A John, Fava Maurizio, Breiter Hans, Macdonald Marcy, Gusella Jam |
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Abnormal motor cortex plasticity in premanifest and very early manifest Huntington disease.
Journal of neurology, neurosurgery, and psychiatry 2010 Mar 81 (3): 267-70. Orth Michael, Schippling Sven, Schneider Susanne A, Bhatia Kailash P, Talelli Penelope, Tabrizi Sarah J, Rothwell John |
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Evaluation of IP-RP-HPLC for length determination of the trinucleotide repeat fragments in Huntington's disease.
Journal of chromatographic science 2010 Jan 48 (1): 55-8. Skrzypczak Marzena, Heinritz Wolfram, Schulz Anna M, Mierzejewski Marek, Froster Ursula |
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Polymorphism of HD and UCHL-1 genes in Huntington's disease.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2009 Nov 16 (11): 1473-7. Xu Er-he, Tang Yi, Li Dan, Jia Jian-pi |
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Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease.
Neurology 2009 Oct 73 (16): 1280-5. Aziz N A, Jurgens C K, Landwehrmeyer G B, , van Roon-Mom W M C, van Ommen G J B, Stijnen T, Roos R A |
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Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset.
Human molecular genetics 2009 Aug 18 (16): 3039-47. Swami Meera, Hendricks Audrey E, Gillis Tammy, Massood Tiffany, Mysore Jayalakshmi, Myers Richard H, Wheeler Vanessa |
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A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease.
Neurobiology of disease 2009 Jul . Dhaenens CM, Burnouf S, Simonin C, Vanbrussel E, Duhamel A, Defebvre L, Duru C, Vuillaume I, Cazeneuve C, Charles P, Maison P, Debruxelles S, Verny C, Gervais H, Azulay JP, Tranchant C, Bachoud-Levi AC, Dürr A, Buée L, Krystkowiak P, Sablonnière B, Blum D |
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