Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 37 Records) |
Query Trace: ATXN1[original query] |
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Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. Brain : a journal of neurology 2014 Sep 137 (Pt 9): 2444-55. Tezenas du Montcel Sophie, Durr Alexandra, Bauer Peter, Figueroa Karla P, Ichikawa Yaeko, Brussino Alessandro, Forlani Sylvie, Rakowicz Maria, Schöls Ludger, Mariotti Caterina, van de Warrenburg Bart P C, Orsi Laura, Giunti Paola, Filla Alessandro, Szymanski Sandra, Klockgether Thomas, Berciano José, Pandolfo Massimo, Boesch Sylvia, Melegh Bela, Timmann Dagmar, Mandich Paola, Camuzat Agnès, , , Goto Jun, Ashizawa Tetsuo, Cazeneuve Cécile, Tsuji Shoji, Pulst Stefan-M, Brusco Alfredo, Riess Olaf, Brice Alexis, Stevanin Giovan |
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 |
Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent. Journal of human genetics 2015 Nov . Paradisi Irene, Ikonomu Vassiliki, Arias Serg |
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 |
Genetic polymorphisms and their association with the prevalence and severity of chronic postsurgical pain: a systematic review. British journal of anaesthesia 2016 Dec 117 (6): 708-719. Hoofwijk D M N, van Reij R R I, Rutten B P, Kenis G, Buhre W F, Joosten E |
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 |
Integrating genome-wide association study with regulatory SNP annotation information identified candidate genes and pathways for schizophrenia. Aging 2019 6 11 (11): 3704-3715. Liang Xiao, Wang Sen, Liu Li, Du Yanan, Cheng Bolun, Wen Yan, Zhao Yan, Ding Miao, Cheng Shiqiang, Ma Mei, Zhang Lu, Qi Xin, Li Ping, Guo Xiong, Zhang Fe |
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 |
(CAG) loci as genetic modifiers of age at onset in patients with spinocerebellar ataxia type 1 from mainland China. European journal of neurology 2019 Mar . Wang P, Chen Z, Peng Y, Cao L, Li X, Wang C, Yang H, Peng H, Shi Y, Zhou X, Li T, Feng L, Wu C, Qiu R, Xia K, Tang B, Jiang |
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 |
The mutational landscape of early- and typical-onset oral tongue squamous cell carcinoma. Cancer 2020 11 127 (4): 544-553. Campbell Benjamin R, Chen Zhishan, Faden Daniel L, Agrawal Nishant, Li Ryan J, Hanna Glenn J, Iyer N Gopalakrishna, Boot Arnoud, Rozen Steven G, Vettore Andre L, Panda Binay, Krishnan Neeraja M, Pickering Curtis R, Myers Jeffrey N, Guo Xingyi, Lang Kuhs Krystle |
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 |
Molecular epidemiology of hereditary ataxia in Finland. BMC neurology 2021 10 21 (1): 382. Lipponen Joonas, Helisalmi Seppo, Raivo Joose, Siitonen Ari, Doi Hiroshi, Rusanen Harri, Lehtilahti Maria, Ryytty Mervi, Laakso Markku, Tanaka Fumiaki, Majamaa Kari, Kytövuori Lau |
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 |
Acute central nervous system toxicity during treatment of pediatric acute lymphoblastic leukemia: phenotypes, risk factors and genotypes. Haematologica 2022 3 107 (10): 2318-2328. Anastasopoulou Stavroula, Nielsen Rikke Linnemann, Als-Nielsen Bodil, Banerjee Joanna, Eriksson Mats A, Helenius Marianne, Heyman Mats M, Johannsdottir Inga Maria, Jonsson Olafur Gisli, MacGregor Stuart, Mateos Marion K, Mayoh Chelsea, Mikkel Sirje, Myrberg Ida Hed, Niinimäki Riitta, Schmiegelow Kjeld, Taskinen Mervi, Vaitkeviciene Goda, Warnqvist Anna, Wolthers Benjamin, Harila-Saari Arja, Ranta Susan |
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 |
Genetic variability in sporadic amyotrophic lateral sclerosis. Brain : a journal of neurology 2023 4 . Van Daele Sien Hilde, Moisse Matthieu, van Vugt Joke J F A, Zwamborn Ramona A J, van der Spek Rick, van Rheenen Wouter, Van Eijk Kristel, Kenna Kevin, Corcia Philippe, Vourc'h Patrick, Couratier Philippe, Hardiman Orla, McLaughin Russell, Gotkine Marc, Drory Vivian, Ticozzi Nicola, Silani Vincenzo, Ratti Antonia, de Carvalho Mamede, Mora Pardina Jesús S, Povedano Monica, Andersen Peter M, Weber Markus, Ba?ak Nazli A, Shaw Chris, Shaw Pamela J, Morrison Karen E, Landers John E, Glass Jonathan D, van Es Michael, van den Berg Leonard H, Al-Chalabi Ammar, Veldink Jan, Van Damme Phil |
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- Page last updated:Mar 18, 2024
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