HuGE Literature Finder
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Records 1-20
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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 |
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Analysis of (CAG) n 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 |
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Neurochemical abnormalities in premanifest and early spinocerebellar ataxias.
Annals of neurology 2018 Mar . Joers James M, Deelchand Dinesh K, Lyu Tianmeng, Emir Uzay E, Hutter Diane, Gomez Christopher M, Bushara Khalaf O, Eberly Lynn E, Öz Gül |
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Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent.
Journal of human genetics 2015 Nov . Paradisi Irene, Ikonomu Vassiliki, Arias Serg |
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Peripheral Neuropathy in Spinocerebellar Ataxia Type 1, 2, 3, and 6.
Cerebellum (London, England) 2015 Jun . Linnemann Christoph, Tezenas du Montcel Sophie, Rakowicz Maryla, Schmitz-Hübsch Tanja, Szymanski Sandra, Berciano Jose, van de Warrenburg Bart P, Pedersen Karine, Depondt Chantal, Rola Rafal, Klockgether Thomas, García Antonio, Mutlu Gurkan, Schöls Ludg |
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Executive deficit in spinocerebellar ataxia type 2 is related to expanded CAG repeats: evidence from antisaccadic eye movements.
Brain and cognition 2014 Nov 91 28-34. Rodríguez-Labrada Roberto, Velázquez-Pérez Luis, Aguilera-Rodríguez Raúl, Seifried-Oberschmidt Carola, Peña-Acosta Arnoy, Canales-Ochoa Nalia, Medrano-Montero Jacqueline, Estupiñan-Rodríguez Annelié, Vázquez-Mojena Yaimeé, González-Zaldivar Yanetza, Laffita Mesa Jose |
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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 |
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Association analysis of a functional variant in ATXN2 with schizophrenia.
Neuroscience letters 2014 Mar 562 24-7. Zhang Fuquan, Wang Guoqiang, Shugart Yin Yao, Xu Yong, Liu Chenxing, Wang Lifang, Lu Tianlan, Yan Hao, Ruan Yanyan, Cheng Zaohuo, Tian Lin, Jin Chunhui, Yuan Janmin, Wang Zhiqiang, Zhu Wei, Cao Leiming, Liu Yansong, Yue Weihua, Zhang D |
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ATXN2 CAG repeat expansions increase the risk for Chinese patients with amyotrophic lateral sclerosis.
Neurobiology of aging 2013 Sep 34 (9): 2236.e5-8. Liu Xiaolu, Lu Ming, Tang Lu, Zhang Nan, Chui Dehua, Fan Dongshe |
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Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data.
Lancet neurology 2013 May . Jacobi H, Reetz K, du Montcel ST, Bauer P, Mariotti C, Nanetti L, Rakowicz M, Sulek A, Durr A, Charles P, Filla A, Antenora A, Schöls L, Schicks J, Infante J, Kang JS, Timmann D, Fabio RD, Masciullo M, Baliko L, Bela M, Boesch S, Bürk K, Peltz A, Schulz JB, Dufaure-Garé I, Klockgether T |
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
Nature genetics 2012 Dec . Köttgen A, Albrecht E, Teumer A, Vitart V, Krumsiek J, Hundertmark C, Pistis G, Ruggiero D, O'Seaghdha CM, Haller T, Yang Q, Tanaka T, Johnson AD, Kutalik Z, Smith AV, Shi J, Struchalin M, Middelberg RP, Brown MJ, Gaffo AL, Pirastu N, Li G, Hayward C, Zemunik T, Huffman J, Yengo L, Zhao JH, Demirkan A, Feitosa MF, Liu X, Malerba G, Lopez LM, van der Harst P, Li X, Kleber ME, Hicks AA, Nolte IM, Johansson A, Murgia F, Wild SH, Bakker SJ, Peden JF, Dehghan A, Steri M, Tenesa A, Lagou V, Salo P, Mangino M, Rose LM, Lehtimäki T, Woodward OM, Okada Y, Tin A, Müller C, Oldmeadow C, Putku M, Czamara D, Kraft P, Frogheri L, Thun GA, Grotevendt A, Gislason GK, Harris TB, Launer LJ, McArdle P, Shuldiner AR, Boerwinkle E, Coresh J, Schmidt H, Schallert M, Martin NG, Montgomery GW, Kubo M, Nakamura Y, Tanaka T, Munroe PB, Samani NJ, Jacobs DR, Liu K, D'Adamo P, Ulivi S, Rotter JI, Psaty BM, Vollenweider P, Waeber G, Campbell S, Devuyst O, Navarro P, Kolcic I, Hastie N, Balkau B, Froguel P, Esko T, Salumets A, Khaw KT, Langenberg C, Wareham NJ, Isaacs A, Kraja A, Zhang Q, Wild PS, Scott RJ, Holliday EG, Org E, Viigimaa M, Bandinelli S, Metter JE, Lupo A, Trabetti E, Sorice R, Döring A, Lattka E, Strauch K, Theis F, Waldenberger M, Wichmann HE, Davies G, Gow AJ, Bruinenberg M, Stolk RP, Kooner JS, Zhang W, Winkelmann BR, Boehm BO, Lucae S, Penninx BW, Smit JH, Curhan G, Mudgal P, Plenge RM, Portas L, Persico I, Kirin M, Wilson JF, Leach IM, van Gilst WH, Goel A, Ongen H, Hofman A, Rivadeneira F, Uitterlinden AG, Imboden M, von Eckardstein A, Cucca F, Nagaraja R, Piras MG, Nauck M, Schurmann C, Budde K, Ernst F, Farrington SM, Theodoratou E, Prokopenko I, Stumvoll M, Jula A, Perola M, Salomaa V, Shin SY, Spector TD, Sala C, Ridker PM, Kähönen M, Viikari J, Hengstenberg C, Nelson CP, Meschia JF, Nalls MA, Sharma P, Singleton AB, Kamatani N, Zeller T, Burnier M, Attia J, Laan M, Klopp N, Hillege HL, Kloiber S, Choi H, Pirastu M, Tore S, Probst-Hensch NM, Völzke H, Gudnason V, Parsa A, Schmidt R, Whitfield JB, Fornage M, Gasparini P, Siscovick DS, Polašek O, Campbell H, Rudan I, Bouatia-Naji N, Metspalu A, Loos RJ, van Duijn CM, Borecki IB, Ferrucci L, Gambaro G, Deary IJ, Wolffenbuttel BH, Chambers JC, März W, Pramstaller PP, Snieder H, Gyllensten U, Wright AF, Navis G, Watkins H, Witteman JC, Sanna S, Schipf S, Dunlop MG, Tönjes A, Ripatti S, Soranzo N, Toniolo D, Chasman DI, Raitakari O, Kao WH, Ciullo M, Fox CS, Caulfield M, Bochud M, Gieger C |
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ATXN-2 CAG repeat expansions are interrupted in ALS patients.
Human genetics 2011 Oct 130 (4): 575-80. Corrado Lucia, Mazzini Letizia, Oggioni Gaia Donata, Luciano Bernadetta, Godi Michela, Brusco Alfredo, D'Alfonso Sand |
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Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis.
Archives of neurology 2011 Jun 68 (6): 739-42. Daoud Hussein, Belzil Véronique, Martins Sandra, Sabbagh Mike, Provencher Pierre, Lacomblez Lucette, Meininger Vincent, Camu William, Dupré Nicolas, Dion Patrick A, Rouleau Guy |
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Spinocerebellar ataxias: microsatellite and allele frequency in unaffected and affected individuals.
Arquivos de neuro-psiquiatria 2009 Dec 67 (4): 1124-32. Freund Aline Andrade, Scola Rosana Hermínia, Teive Hélio A G, Arndt Raquel Cristina, da Costa-Ribeiro Magda Clara Vieira, Alle Lupe Furtado, Werneck Lineu Ces |
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Molecular analysis of CAG repeats at five different spinocerebellar ataxia loci: correlation and alternative explanations for disease pathogenesis.
Molecules and cells 2007 Dec 24 (3): 338-42. Alluri Ravindra Varma, Komandur Sreelatha, Wagheray Avinash, Chaudhuri Jaydip Ray, Sitajayalakshmi , Meena Angmuthu Kanikannan, Jabeen Afshan, Chawda Kamalesh, Subhash Kaul, Krishnaveni Alladi, Hasan Qurratula |
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Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.
Archives of neurology 2004 May 61 (5): 727-33. Brusco Alfredo, Gellera Cinzia, Cagnoli Claudia, Saluto Alessandro, Castucci Alessia, Michielotto Chiara, Fetoni Vincenza, Mariotti Caterina, Migone Nicola, Di Donato Stefano, Taroni Fran |
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Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease.
Clinical genetics 2004 Mar 65 (3): 209-14. Wu Y R, Lin H Y, Chen C M, Gwinn-Hardy K, Ro L S, Wang Y C, Li S H, Hwang J C, Fang K, Hsieh-Li H M, Li M L, Tung L C, Su M T, Lu K T, Lee-Chen G |
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SCA2 and SCA3 mutations in young-onset dopa-responsive parkinsonism.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2003 Sep 10 (5): 597. Svetel M, Djarmati A, Dragasevi? N, Savi? D, Culjkovi? B, Romac S, Kosti? V |
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Molecular analysis of Spinocerebellar ataxias in Koreans: frequencies and reference ranges of SCA1, SCA2, SCA3, SCA6, and SCA7.
Molecules and cells 2001 Dec 12 (3): 336-41. Kim J Y, Park S S, Joo S I, Kim J M, Jeon B |
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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 |
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- Page last updated:Dec 12, 2019
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