Human Genome Epidemiology Literature Finder
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Records 1 - 17 (of 17 Records) |
| Query Trace: Ataxia and ATXN1[original query] |
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| Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. Neurologia i neurochirurgia polska 0 42 (6): 497-504. Rajkiewicz Marta, Su?ek-Piatkowska Anna, Krysa Wioletta, Zdzienicka Elzbieta, Szirkowiec Walentyna, Zaremba Jac |
| 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 |
| 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 |
| Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent. Journal of human genetics 2015 Nov . Paradisi Irene, Ikonomu Vassiliki, Arias Serg |
| 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, |
| 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 |
| (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 |
| 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 |
| 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 |
| 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 |
| 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 |
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