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C9ORF72 hexanucleotide repeat expansion in ALS patients from the Central European Russia population.
Abramycheva, Natalya Y; Lysogorskaia, Elena V; Stepanova, Maria S; Zakharova, Maria N; Kovrazhkina, Elena A; Razinskaya, Olga D; Smirnov, Andrey P; Maltsev, Andrey V; Ustyugov, Alexey A; Kukharsky, Michail S; Khritankova, Inna V; Bachurin, Sergey O; Cooper-Knock, Johnathan; Buchman, Vladimir L; Illarioshkin, Sergey N; Skvortsova, Veronika I; Ninkina, Natalia.
Afiliação
  • Abramycheva NY; Department of Neurogenetics, Research Center of Neurology, Moscow, Russian Federation.
  • Lysogorskaia EV; Department of Neurogenetics, Research Center of Neurology, Moscow, Russian Federation.
  • Stepanova MS; Department of Neurogenetics, Research Center of Neurology, Moscow, Russian Federation.
  • Zakharova MN; Department of Neurogenetics, Research Center of Neurology, Moscow, Russian Federation.
  • Kovrazhkina EA; Department of Neurology and Neurosurgery, Pirogov Russian National Research Medical University, Moscow, Russian Federation.
  • Razinskaya OD; Department of Neurology and Neurosurgery, Pirogov Russian National Research Medical University, Moscow, Russian Federation.
  • Smirnov AP; Department of Neurology and Neurosurgery, Pirogov Russian National Research Medical University, Moscow, Russian Federation.
  • Maltsev AV; Laboratory of Genetic Modeling of Neurodegenerative Processes, Institute of Physiologically Active Compounds Russian Academy of Sciences, Moscow Region, Russian Federation.
  • Ustyugov AA; Laboratory of Genetic Modeling of Neurodegenerative Processes, Institute of Physiologically Active Compounds Russian Academy of Sciences, Moscow Region, Russian Federation; School of Biosciences, Cardiff University, Cardiff, UK.
  • Kukharsky MS; Laboratory of Genetic Modeling of Neurodegenerative Processes, Institute of Physiologically Active Compounds Russian Academy of Sciences, Moscow Region, Russian Federation.
  • Khritankova IV; Laboratory of Genetic Modeling of Neurodegenerative Processes, Institute of Physiologically Active Compounds Russian Academy of Sciences, Moscow Region, Russian Federation.
  • Bachurin SO; Laboratory of Genetic Modeling of Neurodegenerative Processes, Institute of Physiologically Active Compounds Russian Academy of Sciences, Moscow Region, Russian Federation.
  • Cooper-Knock J; Department of Neuroscience, Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.
  • Buchman VL; School of Biosciences, Cardiff University, Cardiff, UK.
  • Illarioshkin SN; Department of Neurogenetics, Research Center of Neurology, Moscow, Russian Federation.
  • Skvortsova VI; Department of Neurology and Neurosurgery, Pirogov Russian National Research Medical University, Moscow, Russian Federation.
  • Ninkina N; Laboratory of Genetic Modeling of Neurodegenerative Processes, Institute of Physiologically Active Compounds Russian Academy of Sciences, Moscow Region, Russian Federation; School of Biosciences, Cardiff University, Cardiff, UK. Electronic address: ninkinan@cf.ac.uk.
Neurobiol Aging ; 36(10): 2908.e5-9, 2015 Oct.
Article em En | MEDLINE | ID: mdl-26254955
Cohorts of amyotrophic lateral sclerosis (ALS) patients and control individuals of Caucasian origin from the Central European Russia (Moscow city and region) were analyzed for the presence of hexanucleotide repeat GGGGCC expansion within the first intron of the C9ORF72 gene. The presence of a large (>40) repeat expansion was found in 15% of familial ALS cases (3 of 20 unrelated familial cases) and 2.5% of sporadic ALS cases (6 of 238) but in none of control cases. These results suggest that the frequency of C9ORF72 hexanucleotide repeats expansions in the Central European Russian ALS patients is significantly lower than in Western European or Northern American ALS patients of Caucasian origin but higher than in Asian ALS patients.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas / Expansão das Repetições de DNA / Esclerose Lateral Amiotrófica Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Humans País/Região como assunto: Asia / Europa Idioma: En Revista: Neurobiol Aging Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas / Expansão das Repetições de DNA / Esclerose Lateral Amiotrófica Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Humans País/Região como assunto: Asia / Europa Idioma: En Revista: Neurobiol Aging Ano de publicação: 2015 Tipo de documento: Article