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Difference between revisions of "RU Moscow Itkis YS"

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{{MiPNetLab
{{O2k-Network Lab
|institution=Lab. Metab. Disorders
|institution=Lab. Metab. Disorders



Revision as of 15:39, 9 February 2015

                



RU Moscow Itkis YS

Oroboros O2k-Network

O2k-Network
O2k-Network Lab Lab. Metab. Disorders

Research Centre for Medical Genetics

RAMS

Address Moskvorechie 1,
City Moscow
State/Prov
Country Russia
Weblink
Contact Itkis Yulia S
Team Krylova Tatiana, Tsygankova Polina
Team previous
Status O2k 2012-
Oroboros Events IOC93, IOC80, IOC72, IOC60
Topics PDH-deficiency, Alpers syndrome, Leigh syndrome, mitochondrial DNA depletion syndromes


O2k-Publications

 PublishedReference
Itkis 2019 Mitochondrion2019Itkis Y, Krylova T, Pechatnikova NL, De Grassi A, Tabakov VY, Pierri CL, Aleshin V, Boyko A, Bunik VI, Zakharova EY (2019) A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent. Mitochondrion 47:10-17.
Krylova 2019 Mitochondrion2019Krylova TD, Sheremet NL, Tabakov VY, Lyamzaev KG, Itkis YS, Tsygankova PG, Andreeva NA, Shmelkova MS, Nevinitsyna TA, Kadyshev VV, Zakharova EY (2019) Three rare pathogenic mtDNA substitutions in LHON patients with low heteroplasmy. Mitochondrion 50:139-144.
Krylova 2017 Biomed Khim2017Krylova TD, Tsygankova PG, Itkis YS, Sheremet NL, Nevinitsyna TA, Mikhaylova SV, Zakharova EY (2017) High resolution respirometry in diagnostic of mitochondrial disorders caused by mitochondrial complex I deficiency. Biomed Khim 63:327-33.
Sheremet 2016 Biochemistry (Moscow)2016Sheremet NL, Nevinitsyna TA, Zhorzholadze NV, Ronzina IA, Itkis YS, Krylova TD, Tsygankova PG, Malakhova VA, Zakharova EY, Tokarchuk AV, Panteleeva AA, Karger EM, Lyamzaev KG, Avetisov SE (2016) Previously unclassified mutation of mtDNA m.3472T>C: evidence of pathogenicity in Leber’s hereditary optic neuropathy. Biochemistry (Moscow) BM16-078.

O2k-Abstracts

 PublishedReference
Krylova 2017 MiPschool Obergurgl2017
KrylovaT.jpg
High-resolution respirometry in diagnostic of mitochondrial complex I deficiency.
Itkis 2010 Abstract IOC602010Itkis YS (2010) Respirometry application in Leigh disease diagnostic and treatment. MiPNet15.10.