Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.

Autor: Kozina AA; Institute of Biomedical Chemistry, Moscow, Russia.; Pirogov Russian National Research Medical University, Moscow, Russia., Okuneva EG; Genotek Ltd., Moscow, Russia., Baryshnikova NV; Pirogov Russian National Research Medical University, Moscow, Russia.; Genotek Ltd., Moscow, Russia., Kondakova OB; Scientific and Practical Centre of Pediatric Psychoneurology of Moscow Healthcare Department, Moscow, Russia., Nikolaeva EA; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Moscow, Russia., Fedoniuk ID; Russian Children's Clinical Hospital, Moscow, Russia., Mikhailova SV; Russian Children's Clinical Hospital, Moscow, Russia., Krasnenko AY; Genotek Ltd., Moscow, Russia., Stetsenko IF; Genotek Ltd., Moscow, Russia., Plotnikov NA; Genotek Ltd., Moscow, Russia., Klimchuk OI; Genotek Ltd., Moscow, Russia., Popov YV; Genotek Ltd., Moscow, Russia., Surkova EI; Genotek Ltd., Moscow, Russia., Shatalov PA; Genotek Ltd., Moscow, Russia.; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Moscow, Russia., Rakitko AS; Genotek Ltd., Moscow, Russia.; Faculty of Mechanics and Mathematics, Lomonosov Moscow State University, Moscow, Russia., Ilinsky VV; Institute of Biomedical Chemistry, Moscow, Russia.; Pirogov Russian National Research Medical University, Moscow, Russia.; Genotek Ltd., Moscow, Russia.; Vavilov Institute of General Genetics, Moscow, Russia.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Jul; Vol. 8 (7), pp. e1228. Date of Electronic Publication: 2020 May 15.

[Syndrome Leigh caused by mutations in the SURF1 gene: clinical and molecular-genetic characteristics].

Autor: Tsygankova PG, Mikhaĭlova SV, Zakharova EIu, Pichkur NA, Il'ina ES, Nikolaeva EA, Rudenskaia GE, Dadali EL, Kolpakchi LM, Fedoniuk ID, Matiushchenko GN

Publikováno v: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova [Zh Nevrol Psikhiatr Im S S Korsakova] 2010; Vol. 110 (1), pp. 25-32.

[A case of Canavan-Van Bogaert-Bertrand leukodystrophy].

Autor: Mikhaĭlova SV, Zakharova EIu, Bukina AM, Il'ina ES, Pokrovskaia AIa, Fedoniuk ID, Bembeeva RTs, Petrukhin AS

Publikováno v: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova [Zh Nevrol Psikhiatr Im S S Korsakova] 2004; Vol. 104 (4), pp. 50-4.