HuGE Literature Finder
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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 |
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 |
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 |
Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent. Journal of human genetics 2015 Nov . Paradisi Irene, Ikonomu Vassiliki, Arias Serg |
Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study. BMC neurology 2015 15 (1): 166. Choubtum Lulin, Witoonpanich Pirada, Hanchaiphiboolkul Suchat, Bhidayasiri Roongroj, Jitkritsadakul Onanong, Pongpakdee Sunsanee, Wetchaphanphesat Suppachok, Boonkongchuen Pairoj, Pulkes Teerato |
Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. Brain : a journal of neurology 2003 Jul 126 (Pt 7): 1599-603. Stevanin Giovanni, Fujigasaki Hiroto, Lebre Anne-Sophie, Camuzat Agnes, Jeannequin Cecile, Dode Catherine, Takahashi Junko, San Chankranira, Bellance Robert, Brice Alexis, Durr Alexand |
Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene. Neurologia i neurochirurgia polska 0 42 (3): 203-9. Su?ek-Piatkowska Anna, Krysa Wioletta, Zdzienicka Elzbieta, Szirkowiec Walentyna, Hoffman-Zacharska Dorota, Rajkiewicz Marta, Fidzia?ska Elzbieta, Kowalska Grazyna, Zaremba Jac |
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