Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Natalia Vladimirovna Baryshnikova"'
Autor:
Anastasiya Aleksandrovna Kozina, Guria Kurbanovna Kanaeva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Ilinskaya, Anna Alexandrovna Kim, Anastasia Vladimirovna Erofeeva, Nadezhda Andreevna Pogodina, Jamilya Payzutdinova Gadzhiyeva, Ekaterina Ivanovna Surkova, Valery Vladimirovich Ilinsky
Publikováno v:
Journal of International Medical Research, Vol 51 (2023)
Joubert syndrome (JS) is a recessive disorder that is characterized by midbrain-hindbrain malformation and shows the “molar tooth sign” on magnetic resonance imaging. Mutations in 40 genes, including Abelson helper integration site 1 ( AHI1 ), in
Externí odkaz:
https://doaj.org/article/cb3fbf99cefa4d37beaa01d6e0d4d25b
Autor:
Anastasiya Aleksandrovna Kozina, Natalia Vladimirovna Baryshnikova, Anna Yurievna Ilinskaya, Anna Alexandrovna Kim, Nikolay Alekseevich Plotnikov, Nadezhda Andreevna Pogodina, Ekaterina Ivanovna Surkova, Peter Alekseevich Shatalov, Valery Vladimirovich Ilinsky
Publikováno v:
Journal of International Medical Research, Vol 50 (2022)
Charcot–Marie–Tooth disease (CMT) is a genetically heterogeneous group of peripheral neuropathies most of which are associated with mutations in four genes including peripheral myelin protein-22 ( PMP22) , myelin protein zero ( MPZ ), gap junctio
Externí odkaz:
https://doaj.org/article/811cc3bc9dd0483f85523d089e326669
Autor:
Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Inessa Dmitrievna Fedonyuk, Alexey Aleksandrovich Kholin, Elena Stepanovna Il’ina, Anna Yurievna Krasnenko, Ivan Fedorovich Stetsenko, Nikolay Alekseevich Plotnikov, Olesia Igorevna Klimchuk, Ekaterina Ivanovna Surkova, Valery Vladimirovich Ilinsky
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)
Abstract Background Epilepsy with intellectual disability limited to females (Epileptic encephalopathy, early infantile, 9; EIEE9) is a rare early infantile epileptic encephalopathy characterized by an unusual X-linked inheritance: females with heter
Externí odkaz:
https://doaj.org/article/e0501934cf2640a1bfa785a5bdafcdc1
Autor:
Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Krasnenko, Kirill Yurievich Tsukanov, Olesya Igorevna Klimchuk, Olga Borisovna Kondakova, Anna Nikolaevna Larionova, Tatyana Timofeevna Batysheva, Ekaterina Ivanovna Surkova, Peter Alekseevich Shatalov, Valery Vladimirovich Ilinsky
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-6 (2018)
Abstract Background Neuronal ceroid lipofuscinoses (NCLs) are the most common autosomal recessive neurodegenerative disorders in children. Clinical manifestations include progressive cognitive decline, motor impairment, ataxia, visual loss, seizures
Externí odkaz:
https://doaj.org/article/0f53728ecd88490ca4c75bf9817ac9bf
Autor:
Anastasiya Aleksandrovna Kozina, Natalia Vladimirovna Baryshnikova, Anna Yurievna Ilinskaya, Anna Alexandrovna Kim, Nikolay Alekseevich Plotnikov, Nadezhda Andreevna Pogodina, Ekaterina Ivanovna Surkova, Peter Alekseevich Shatalov, Valery Vladimirovich Ilinsky
Publikováno v:
Journal of International Medical Research. 50:030006052211397
Charcot–Marie–Tooth disease (CMT) is a genetically heterogeneous group of peripheral neuropathies most of which are associated with mutations in four genes including peripheral myelin protein-22 ( PMP22), myelin protein zero ( MPZ), gap junction
Autor:
P. A. Shatalov, V V Ilinsky, S. B. Artemieva, T. I. Baranich, A. Yu. Krasnenko, A. G. Kupriyanova, Natalia Vladimirovna Baryshnikova, Vladimir Sukhorukov, Anastasiya Aleksandrovna Kozina
Publikováno v:
TARGETED ONCOTHERAPY. :15-21
Congenital core myopathies are a clinically and genetically heterogenous group of congenital myopathies that share a specific histopathological feature: areas of reduced oxidative activity in muscle fibers. The relationship between clinical, genetic
Autor:
I. D. Fedonyuk, I. F. Stetsenko, V V Ilinsky, E. I. Surkova, Elena Grigorievna Okuneva, A. A. Kholin, Nikolay Plotnikov, Olesia Igorevna Klimchuk, Natalia Vladimirovna Baryshnikova, Anna Krasnenko, Anastasiya Aleksandrovna Kozina, E S Il'ina
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)
Background Epilepsy with intellectual disability limited to females (Epileptic encephalopathy, early infantile, 9; EIEE9) is a rare early infantile epileptic encephalopathy characterized by an unusual X-linked inheritance: females with heterozygous m
Autor:
I. F. Stetsenko, Olesia Igorevna Klimchuk, P. A. Shatalov, E.A. Nikolaeva, Yaroslav V. Popov, Anna Krasnenko, E. I. Surkova, V V Ilinsky, Natalia Vladimirovna Baryshnikova, Alexander Rakitko, Olga Borisovna Kondakova, Elena Grigorievna Okuneva, Svetlana V. Mikhailova, Inessa D. Fedoniuk, Nikolay Plotnikov, Anastasiya Aleksandrovna Kozina
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Background Neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative disorders characterized by an accumulation of lipofuscin in the body's tissues. NCLs are associated with variable age of onset and progressive symptoms including seizur
Autor:
O. I. Klimchuk, E. I. Surkova, V V Ilinsky, P. A. Shatalov, Anna Yu. Krasnenko, Tatiana A. Trofimova, Varvara A. Obuhova, Natalia Vladimirovna Baryshnikova, Elena Grigorievna Okuneva, Anastasiya Aleksandrovna Kozina, Kirill Yu. Tsukanov
Publikováno v:
BMC Nephrology
BMC Nephrology, Vol 20, Iss 1, Pp 1-7 (2019)
BMC Nephrology, Vol 20, Iss 1, Pp 1-7 (2019)
Background Liddle syndrome is a monogenic disease with autosomal dominant inheritance. Basic characteristics of this disease are hypertension, reduced concentration of aldosterone and renin activity, as well as increased excretion of potassium leadin
Autor:
Elena Grigorievna Okuneva, V V Ilinsky, A. Yu. Krasnenko, Natalia Vladimirovna Baryshnikova, K. Yu. Tsukanov, Anastasiya Aleksandrovna Kozina, O. I. Klimchuk, E. I. Surkova
Publikováno v:
BMC Dermatology
BMC Dermatology, Vol 19, Iss 1, Pp 1-5 (2019)
BMC Dermatology, Vol 19, Iss 1, Pp 1-5 (2019)
Background Cutis laxa (CL) is a rare connective tissue disorder characterized by loose, redundant, inelastic and wrinkled skin. Patients develop a prematurely aged appearance. Inheritance can be autosomal dominant or autosomal recessive. The X-linked