Analysis of primary diagnostics of hereditary motor and sensory neuropathies in the Republic of Bashkortostan by E. V. Saifullina, R. V. Magzhanov, I. M. Khidiiatova, E. K. Khusnutdinova

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Leukoencephalopathy with vanishing white matter caused by <i>EIF2B5</i> gene mutations: a case report by E. V. Saifullina, E. V. Gaysina, R. V. Magzhanov, A. A. Yalaev, I. O. Nagornov

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A clinical case of adult onset Niemann–Pick disease type C by E. V. Saifullina, R. V. Magzhanov, A. K. Mardanova, T. Yu. Proshlyakova, E. Yu. Zakharova, S. A. Klyushnikov, S. N. Illarioshkin

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Glutaric aciduria type 1 in children. Clinical presentation of 46 cases in Russian families by S. V. Mikhailova, E. V. Saifullina, P. V. Baranova, V. P.   Vorontsova, D.  I.   Gribov, M.   V. Zhivihina, A. N.   Slatetskaya, R.  V.   Magzhanov, V. A.  Samokhvalov, M.  N.  Virtseva, L.     P. Borscheva, E.  E.  Koh, M.   V.  Novikova, A. V.   Abrukova, E.     Yu. Belyashova, N.    Yu. Gerasimenko, L.     V. Guseva, Zh.     V. Yukhimenko, N.     V. Nikitina, T.  I.   Belyaeva, T.   A.  Shkurko, N.   A.  Pichkur, V.     S. Kakaulina, N.   L. Pechatnikova, N .  A. Polyakova, S.    A. Korostelev, D.    V. Pyankov, I.   V. Kanivets, N.   A.  Demina, E.     Yu. Pyrkova, G.     V. Baidakova, M.    V. Kurkina, E.   Yu.  Zakharova

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