HuGE Literature Finder
Records 1-30
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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 |
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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 |
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Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations.
Neurogenetics 2019 Mar . Naruse Hiroya, Matsukawa Takashi, Ishiura Hiroyuki, Mitsui Jun, Takahashi Yuji, Takano Hiroki, Goto Jun, Toda Tatsushi, Tsuji Sho |
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ATXN2 intermediate repeat expansions influence the clinical phenotype in frontotemporal dementia.
Neurobiology of aging 2019 01 73 231.e7-231.e9. Rubino Elisa, Mancini Cecilia, Boschi Silvia, Ferrero Patrizia, Ferrone Marina, Bianca Stefano, Zucca Milena, Orsi Laura, Pinessi Lorenzo, Govone Flora, Vacca Alessandro, Gai Annalisa, Giordana Maria Teresa, Brusco Alfredo, Rainero Innocen |
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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 |
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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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Targeted next-generation sequencing reveals novel and rare variants in Indian patients with amyotrophic lateral sclerosis.
Neurobiology of aging 2018 May . Narain Priyam, Pandey Ashutosh, Gupta Shruti, Gomes James, Bhatia Rohit, Vivekanandan Perum |
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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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Investigating CCNF mutations in a Taiwanese cohort with amyotrophic lateral sclerosis.
Neurobiology of aging 2017 Oct . Tsai Pei-Chien, Liao Yi-Chu, Chen Po-Lin, Guo Yuh-Cherng, Chen Ying-Hao, Jih Kang-Yang, Lin Kon-Ping, Soong Bing-Wen, Tsai Ching-Paio, Lee Yi-Chu |
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The evolving genetic risk for sporadic ALS.
Neurology 2017 Jul 89 (3): 226-233. Gibson Summer B, Downie Jonathan M, Tsetsou Spyridoula, Feusier Julie E, Figueroa Karla P, Bromberg Mark B, Jorde Lynn B, Pulst Stefan |
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Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers.
Neurobiology of aging 2015 Dec . Dekker Annelot M, Seelen Meinie, van Doormaal Perry T C, van Rheenen Wouter, Bothof Reinoud J P, van Riessen Tim, Brands William J, van der Kooi Anneke J, de Visser Marianne, Voermans Nicol C, Pasterkamp R Jeroen, Veldink Jan H, van den Berg Leonard H, van Es Michael |
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Genetic studies of Russian patients with amyotrophic lateral sclerosis.
Amyotrophic lateral sclerosis & frontotemporal degeneration 2015 Nov 1-7. Lysogorskaia Elena V, Abramycheva Nataliya Yu, Zakharova Mariya N, Stepanova Mariya S, Moroz Anna A, Rossokhin Alexey V, Illarioshkin Sergey |
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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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Mutational analysis of MATR3 in Taiwanese patients with amyotrophic lateral sclerosis.
Neurobiology of aging 2015 May 36 (5): 2005.e1-4. Lin Kon-Ping, Tsai Pei-Chien, Liao Yi-Chu, Chen Wei-Ting, Tsai Ching-Piao, Soong Bing-Wen, Lee Yi-Chu |
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Intermediate-length polyglutamine in ATXN2 is a possible risk factor among Eastern Chinese patients with amyotrophic lateral sclerosis.
Neurobiology of aging 2015 Mar 36 (3): 1603.e11-4. Lu Hai-Peng, Gan Shi-Rui, Chen Sheng, Li Hong-Fu, Liu Zhi-Jun, Ni Wang, Wang Ning, Wu Zhi-Yi |
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Amyotrophic lateral sclerosis risk for spinocerebellar ataxia type 2 ATXN2 CAG repeat alleles: a meta-analysis.
JAMA neurology 2014 Dec 71 (12): 1529-34. Neuenschwander Annalese G, Thai Khanh K, Figueroa Karla P, Pulst Stefan |
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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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Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers.
Neurobiology of aging 2014 Oct 35 (10): 2421.e13-7. van Blitterswijk Marka, Mullen Bianca, Heckman Michael G, Baker Matthew C, DeJesus-Hernandez Mariely, Brown Patricia H, Murray Melissa E, Hsiung Ging-Yuek R, Stewart Heather, Karydas Anna M, Finger Elizabeth, Kertesz Andrew, Bigio Eileen H, Weintraub Sandra, Mesulam Marsel, Hatanpaa Kimmo J, White Charles L, Neumann Manuela, Strong Michael J, Beach Thomas G, Wszolek Zbigniew K, Lippa Carol, Caselli Richard, Petrucelli Leonard, Josephs Keith A, Parisi Joseph E, Knopman David S, Petersen Ronald C, Mackenzie Ian R, Seeley William W, Grinberg Lea T, Miller Bruce L, Boylan Kevin B, Graff-Radford Neill R, Boeve Bradley F, Dickson Dennis W, Rademakers Ro |
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Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis.
Neurobiology of aging 2014 Oct 35 (10): 2423.e1-6. Soong Bing-Wen, Lin Kon-Ping, Guo Yuh-Cherng, Lin Chou-Ching K, Tsai Pei-Chien, Liao Yi-Chu, Lu Yi-Chun, Wang Shuu-Jiun, Tsai Ching-Piao, Lee Yi-Chu |
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Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders.
Neurology 2014 Sep 83 (11): 990-5. Lattante Serena, Millecamps Stéphanie, Stevanin Giovanni, Rivaud-Péchoux Sophie, Moigneu Carine, Camuzat Agnès, Da Barroca Sandra, Mundwiller Emeline, Couarch Philippe, Salachas François, Hannequin Didier, Meininger Vincent, Pasquier Florence, Seilhean Danielle, Couratier Philippe, Danel-Brunaud Véronique, Bonnet Anne-Marie, Tranchant Christine, LeGuern Eric, Brice Alexis, Le Ber Isabelle, Kabashi Edor, |
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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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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 |
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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 |
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Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease.
Clinical genetics 2013 Mar 83 (3): 279-83. Lindquist S G, Duno M, Batbayli M, Puschmann A, Braendgaard H, Mardosiene S, Svenstrup K, Pinborg L H, Vestergaard K, Hjermind L E, Stokholm J, Andersen B B, Johannsen P, Nielsen J |
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De novo mutations in ataxin-2 gene and ALS risk.
PloS one 2013 8 (8): e70560. Laffita-Mesa José Miguel, Rodríguez Pupo Jorge Michel, Moreno Sera Raciel, Vázquez Mojena Yaimee, Kourí Vivian, Laguna-Salvia Leonides, Martínez-Godales Michael, Valdevila Figueira José A, Bauer Peter O, Rodríguez-Labrada Roberto, González Zaldívar Yanetza, Paucar Martin, Svenningsson Per, Velázquez Pérez Lu |
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Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis.
Neurology 2012 Nov . Conforti FL, Spataro R, Sproviero W, Mazzei R, Cavalcanti F, Condino F, Simone IL, Logroscino G, Patitucci A, Magariello A, Muglia M, Rodolico C, Valentino P, Bono F, Colletti T, Monsurrò MR, Gambardella A, La Bella V |
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ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling.
Neurobiology of aging 2012 Aug 33 (8): 1847.e15-21. Gellera Cinzia, Ticozzi Nicola, Pensato Viviana, Nanetti Lorenzo, Castucci Alessia, Castellotti Barbara, Lauria Giuseppe, Taroni Franco, Silani Vincenzo, Mariotti Cateri |
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Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease.
Neurology 2012 Jul 79 (1): 66-72. Lattante Serena, Conte Amelia, Zollino Marcella, Luigetti Marco, Del Grande Alessandra, Marangi Giuseppe, Romano Angela, Marcaccio Alessandro, Meleo Emiliana, Bisogni Giulia, Rossini Paolo Maria, Sabatelli Mar |
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ATXN2 and its neighbouring gene SH2B3 are associated with increased ALS risk in the Turkish population.
PloS one 2012 7 (8): e42956. Lahut Suna, Ömür Özgür, Uyan Özgün, A??m Zeynep Sena, Özo?uz Aslihan, Parman Ye?im, Deymeer Feza, Oflazer Piraye, Koç Filiz, Özçelik Hilmi, Auburger Georg, Ba?ak A Naz |
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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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Ataxin-2 repeat-length variation and neurodegeneration.
Human molecular genetics 2011 Aug 20 (16): 3207-12. Ross Owen A, Rutherford Nicola J, Baker Matt, Soto-Ortolaza Alexandra I, Carrasquillo Minerva M, DeJesus-Hernandez Mariely, Adamson Jennifer, Li Ma, Volkening Kathryn, Finger Elizabeth, Seeley William W, Hatanpaa Kimmo J, Lomen-Hoerth Catherine, Kertesz Andrew, Bigio Eileen H, Lippa Carol, Woodruff Bryan K, Knopman David S, White Charles L, Van Gerpen Jay A, Meschia James F, Mackenzie Ian R, Boylan Kevin, Boeve Bradley F, Miller Bruce L, Strong Michael J, Uitti Ryan J, Younkin Steven G, Graff-Radford Neill R, Petersen Ronald C, Wszolek Zbigniew K, Dickson Dennis W, Rademakers Ro |
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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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PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats.
PloS one 2011 6 (3): e17951. Yu Zhenming, Zhu Yongqing, Chen-Plotkin Alice S, Clay-Falcone Dana, McCluskey Leo, Elman Lauren, Kalb Robert G, Trojanowski John Q, Lee Virginia M-Y, Van Deerlin Vivianna M, Gitler Aaron D, Bonini Nancy |
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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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Genetic analysis of SCA2, 3 and 17 in idiopathic Parkinson's disease.
Neuroscience letters 2006 Jul 403 (1-2): 11-4. Lim S W, Zhao Y, Chua E, Law H Y, Yuen Y, Pavanni R, Wong M C, Ng I S, Yoon C S, Puong K Y, Lim S H, Tan E |
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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:Mar 30, 2020
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