Browsing by Author "Bardakov S.N."

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  • Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene 
    Bardakov S.N.; Deev R.V.; Magomedova R.M.; Umakhanova Z.R.; Allamand V.; Gartioux C.; Zulfugarov K.Z.; Akhmedova P.G.; Tsargush V.A.; Titova A.A.; Mavlikeev M.O.; Zorin V.L.; Chernets E.N.; Dalgatov G.D.; Konovalov F.A.; Isaev A.A. (2021)
    A family of five male siblings (three survivors at 48, 53 and 58 years old; two deceased at 8 months old and 2.5 years old) demonstrating significant phenotypic variability ranging from intermediate to the myosclerotic ...
  • Magnetic resonance imaging pattern variability in dysferlinopathy 
    Bardakov S.N.; Tsargush V.A.; Carlier P.G.; Nikitin S.S.; Kurbatov S.A.; Titova A.A.; Umakhanova Z.R.; Akhmedova P.G.; Magomedova R.M.; Zheleznyak I.S.; Emelyantsev A.A.; Berezhnaya E.N.; A Yakovlev I.; Isaev A.A.; Deev R.V. (2021)
    The widespread use of magnetic resonance imaging (MRI) in the diagnosis of myopathies has made it possible to clarify the typical MRI pattern of dysferlinopathy. However, sufficient attention has not been given to the ...

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