Human Genome Epidemiology Literature Finder
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Records 1 - 29 (of 29 Records) |
| Query Trace: Disease and ATXN1[original query] |
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| Follow-up study of susceptibility loci for Alzheimer's disease and onset age identified by genome-wide association. Journal of Alzheimer's disease : JAD 2010 19 (4): 1169-75. Bettens Karolien, Brouwers Nathalie, Van Miegroet Helen, Gil Ana, Engelborghs Sebastiaan, De Deyn Peter P, Vandenberghe Rik, Van Broeckhoven Christine, Sleegers Krist |
| Loss of function of ATXN1 increases amyloid beta-protein levels by potentiating beta-secretase processing of beta-amyloid precursor protein. The Journal of biological chemistry 2010 1 285 (12): 8515-26. Zhang Can, Browne Andrew, Child Daniel, Divito Jason R, Stevenson Jesse A, Tanzi Rudolph |
Genome-wide association study of a quantitative disordered gambling trait.
Addiction biology 2013 May 18 (3): 511-22. Lind Penelope A, Zhu Gu, Montgomery Grant W, Madden Pamela A F, Heath Andrew C, Martin Nicholas G, Slutske Wendy |
| Analysis of copy number variation in Alzheimer's disease: the NIALOAD/ NCRAD Family Study. Current Alzheimer research 2012 Sep 9 (7): 801-14. Swaminathan Shanker, Shen Li, Kim Sungeun, Inlow Mark, West John D, Faber Kelley M, Foroud Tatiana, Mayeux Richard, Saykin Andrew J, , |
| Evaluation of polyglutamine repeats in autosomal dominant Parkinson's disease. Neurobiology of aging 2014 Jul 35 (7): 1779.e17-21. Yamashita Chikara, Tomiyama Hiroyuki, Funayama Manabu, Inamizu Saeko, Ando Maya, Li Yuanzhe, Yoshino Hiroyo, Araki Takehisa, Ichikawa Tadashi, Ehara Yoshiro, Ishikawa Kinya, Mizusawa Hidehiro, Hattori Nobuta |
| Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
Neurobiology of aging 2014 Jul 35 (7): 1778.e9-1778.e23. Xie Tong, Deng Libin, Mei Puming, Zhou Yiyi, Wang Bo, Zhang Jie, Lin Jiari, Wei Yi, Zhang Xiong, Xu Rens |
| Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyte development and differentiation.
Nature genetics 2017 Jan 49 (1): 125-130. Chu Audrey Y, Deng Xuan, Fisher Virginia A, Drong Alexander, Zhang Yang, Feitosa Mary F, Liu Ching-Ti, Weeks Olivia, Choh Audrey C, Duan Qing, Dyer Thomas D, Eicher John D, Guo Xiuqing, Heard-Costa Nancy L, Kacprowski Tim, Kent Jack W, Lange Leslie A, Liu Xinggang, Lohman Kurt, Lu Lingyi, Mahajan Anubha, O'Connell Jeffrey R, Parihar Ankita, Peralta Juan M, Smith Albert V, Zhang Yi, Homuth Georg, Kissebah Ahmed H, Kullberg Joel, Laqua René, Launer Lenore J, Nauck Matthias, Olivier Michael, Peyser Patricia A, Terry James G, Wojczynski Mary K, Yao Jie, Bielak Lawrence F, Blangero John, Borecki Ingrid B, Bowden Donald W, Carr John Jeffrey, Czerwinski Stefan A, Ding Jingzhong, Friedrich Nele, Gudnason Vilmunder, Harris Tamara B, Ingelsson Erik, Johnson Andrew D, Kardia Sharon L R, Langefeld Carl D, Lind Lars, Liu Yongmei, Mitchell Braxton D, Morris Andrew P, Mosley Thomas H, Rotter Jerome I, Shuldiner Alan R, Towne Bradford, Völzke Henry, Wallaschofski Henri, Wilson James G, Allison Matthew, Lindgren Cecilia M, Goessling Wolfram, Cupples L Adrienne, Steinhauser Matthew L, Fox Caroline |
| Large normal-range TBP and ATXN7 CAG repeat lengths are associated with increased lifetime risk of depression. Translational psychiatry 2017 Jun 7 (6): e1143. Gardiner S L, van Belzen M J, Boogaard M W, van Roon-Mom W M C, Rozing M P, van Hemert A M, Smit J H, Beekman A T F, van Grootheest G, Schoevers R A, Oude Voshaar R C, Comijs H C, Penninx B W J H, van der Mast R C, Roos R A C, Aziz N |
| Neurological phenotypes in spinocerebellar ataxia type 2: Role of mitochondrial polymorphism A10398G and other risk factors. Parkinsonism & related disorders 2017 Jun . Monte Thais Lampert, Pereira Fernanda Santos, Reckziegel Estela da Rosa, Augustin Marina Coutinho, Locks-Coelho Lucas Dorídio, Santos Amanda Senna P, Pedroso José Luiz, Barsottini Orlando, Vargas Fernando Regla, Saraiva-Pereira Maria-Luiza, Jardim Laura Bannach, |
| A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. Brain : a journal of neurology 2017 Jun 140 (6): 1579-1594. Coutelier Marie, Coarelli Giulia, Monin Marie-Lorraine, Konop Juliette, Davoine Claire-Sophie, Tesson Christelle, Valter Rémi, Anheim Mathieu, Behin Anthony, Castelnovo Giovanni, Charles Perrine, David Albert, Ewenczyk Claire, Fradin Mélanie, Goizet Cyril, Hannequin Didier, Labauge Pierre, Riant Florence, Sarda Pierre, Sznajer Yves, Tison François, Ullmann Urielle, Van Maldergem Lionel, Mochel Fanny, Brice Alexis, Stevanin Giovanni, Durr Alexandra, |
| ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis. Neurobiology of aging 2018 04 64 157.e1-157.e5. Lattante Serena, Pomponi Maria Grazia, Conte Amelia, Marangi Giuseppe, Bisogni Giulia, Patanella Agata Katia, Meleo Emiliana, Lunetta Christian, Riva Nilo, Mosca Lorena, Carrera Paola, Bee Marco, Zollino Marcella, Sabatelli Mar |
| Repeat length variations in polyglutamine disease-associated genes affect body mass index. International journal of obesity (2005) 2018 Aug . Gardiner Sarah L, de Mutsert Renée, Trompet Stella, Boogaard Merel W, van Dijk Ko Willems, Jukema P J Wouter, Slagboom P Eline, Roos Raymund A C, Pijl Hanno, Rosendaal Frits R, Aziz N Ahm |
| Analysis of (CAG) expansion in ATXN1, ATXN2 and ATXN3 in Chinese patients with multiple system atrophy. Scientific reports 2018 Mar 8 (1): 3889. Zhou X, Wang C, Ding D, Chen Z, Peng Y, Peng H, Hou X, Wang P, Hou X, Ye W, Li T, Yang H, Qiu R, Xia K, Sequeiros J, Tang B, Jiang |
| Repeat length variations in ATXN1 and AR modify disease expression in Alzheimer's disease. Neurobiology of aging 2018 Sep . Gardiner Sarah L, Harder Aster V E, Campman Yvonne J M, Trompet Stella, Gussekloo Jacobijn, van Belzen Martine J, Boogaard Merel W, Roos Raymund A C, Jansen Iris E, Pijnenburg Yolande A L, Scheltens Philip, van der Flier Wiesje M, Aziz N Ahm |
| 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 |
| Role for ATXN1, ATXN2, and HTT intermediate repeats in frontotemporal dementia and Alzheimer's disease. Neurobiology of aging 2019 Nov . Rosas Irene, Martínez Carmen, Clarimón Jordi, Lleó Alberto, Illán-Gala Ignacio, Dols-Icardo Oriol, Borroni Barbara, Almeida Maria Rosário, van der Zee Julie, Van Broeckhoven Christine, Bruni Amalia C, Anfossi Maria, Bernardi Livia, Maletta Raffaele, Serpente María, Galimberti Daniela, Scarpini Elio, Rossi Giacomina, Caroppo Paola, Benussi Luisa, Ghidoni Roberta, Binetti Giuliano, Nacmias Benedetta, Sorbi Sandro, Piaceri Irene, Bagnoli Silvia, Antonell Anna, Sánchez-Valle Raquel, De la Casa-Fages Beatriz, Grandas Francisco, Diez-Fairen Mónica, Pastor Pau, Ferrari Raffaele, Álvarez Victoria, Menéndez-González Manu |
| UTteR control through miRs: fine-tuning ATXN1 levels to prevent ataxia. Genes & development 2020 9 34 (17-18): 1107-1109. Xie Mingyi, Swanson Maurice |
| CAG repeats???34 in Ataxin-1 gene are associated with amyotrophic lateral sclerosis in a Brazilian cohort. Journal of the neurological sciences 2020 4 414 116842. Gonçalves João Pedro Nunes, de Andrade Helen Maia Tavares, Cintra Vívian Pedigone, Bonadia Luciana Cardoso, Leoni Tauana Bernardes, de Albuquerque Milena, Martins Melina Pazian, de Borba Fabrício Castro, Couteiro Rafael Esteves Duarte, de Oliveira Daniel Sabino, Claudino Rinaldo, Gonçalves Marcos Vinicius Magno, Dourado Mario Emilio, de Souza Leonardo Cruz, Teixeira Antônio Lúcio, de Godoy Rousseff Prado Laura, Tumas Vitor, Oliveira Acary Souza Bulle, Nucci Anamarli, Lopes-Cendes Iscia, Marques Wilson, França Marcondes |
| Distribution of the CAG Triplet Repeat in ATXN1, ATXN3, and CACNA1A Loci in Peruvian Population. Cerebellum (London, England) 2020 Apr . Gonzales-Sáenz Claudia, Cruz-Rodriguez Carolina, Espinoza-Huertas Keren, Véliz-Otani Diego, Marca Victoria, Ortega Olimpio, Milla-Neyra Karina, Alvarez-Tejada Jorge, Mazzetti Pilar, Cornejo-Olivas Mar |
| 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 |
| Repeats expansions in ATXN2, NOP56, NIPA1 and ATXN1 are not associated with ALS in Africans. IBRO neuroscience reports 2021 6 10 130-135. Nel Melissa, Mavundla Thandeka, Gultig Kayleigh, Botha Gerrit, Mulder Nicola, Benatar Michael, Wuu Joanne, Cooley Anne, Myers Jason, Rampersaud Evadnie, Wu Gang, Heckmann Jeannine |
| Identification of Shared and Asian-Specific Loci for Systemic Lupus Erythematosus and Evidence for Roles of Type III Interferon Signaling and Lysosomal Function in the Disease: A Multi-Ancestral Genome-Wide Association Study.
Arthritis & rheumatology (Hoboken, N.J.) 2021 Nov . Wang Yong-Fei, Wei Wei, Tangtanatakul Pattarin, Zheng Lichuan, Lei Yao, Lin Zhiming, Qian Chengmin, Qin Xiao, Hou Fei, Zhang Xinyu, Shao Li, Satproedprai Nusara, Mahasirimongkol Surakameth, Pisitkun Prapaporn, Song Qin, Lau Yu Lung, Zhang Yan, Hirankarn Nattiya, Yang Wanli |
| Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy. Clinical autonomic research : official journal of the Clinical Autonomic Research Society 2021 Jan . Wernick Anna I, Walton Ronald L, Soto-Beasley Alexandra I, Koga Shunsuke, Heckman Michael G, Valentino Rebecca R, Milanowski Lukasz M, Hoffman-Zacharska Dorota, Koziorowski Dariusz, Hassan Anhar, Uitti Ryan J, Cheshire William P, Singer Wolfgang, Wszolek Zbigniew K, Dickson Dennis W, Low Phillip A, Ross Owen |
| Amyotrophic lateral sclerosis and cerebellum. Scientific reports 2022 Jul 12 (1): 12586. Kabiljo Renata, Iacoangeli Alfredo, Al-Chalabi Ammar, Rosenzweig Iva |
| Re-analysis of the Hungarian amyotrophic lateral sclerosis population and evaluation of novel ALS genetic risk variants. Neurobiology of aging 2022 Aug 116 1-11. Nagy Zsófia Flóra, Pál Margit, Salamon András, Kafui Esi Zodanu Gloria, Füstös Dalma, Klivényi Péter, Széll Már |
| The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia. Frontiers in neurology 2023 9 14 1239725. Amokelani C Mahungu, Elizabeth Steyn, Niki Floudiotis, Lindsay A Wilson, Jana Vandrovcova, Mary M Reilly, Christopher J Record, Michael Benatar, Gang Wu, Sharika Raga, Jo M Wilmshurst, Kireshnee Naidu, Michael Hanna, Melissa Nel, Jeannine M Heckma |
| Mutation Screening of ATXN1, ATXN2, and ATXN3 in Amyotrophic Lateral Sclerosis. Molecular neurobiology 2024 11 . Tianmi Yang, Qianqian Wei, Dejiang Pang, Yangfan Cheng, Jingxuan Huang, Junyu Lin, Yi Xiao, Qirui Jiang, Shichan Wang, Chunyu Li, Huifang Sha |
| Identification and Copy Number Variant Analysis of Enhancer Regions of Genes Causing Spinocerebellar Ataxia. International journal of molecular sciences 2024 10 25 (20): . Fatemeh Ghorbani, Eddy N de Boer, Michiel R Fokkens, Jelkje de Boer-Bergsma, Corien C Verschuuren-Bemelmans, Elles Wierenga, Hamidreza Kasaei, Daan Noordermeer, Dineke S Verbeek, Helga Westers, Cleo C van Diem |
| 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 |
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