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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Sep 27, 2023. (Total: 221476Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Spinocerebellar Ataxias and CACNA1A[original query]
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
Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent.
Journal of human genetics 2015 Nov .
Paradisi Irene, Ikonomu Vassiliki, Arias Serg
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,
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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