Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Ivan Litvinenko"'
Autor:
Maria Judit Molnar, Léna Szabó, Oana Aurelia Vladacenco, Ana Maria Cobzaru, Talya Dor, Amir Dori, Georgios Papadimas, Lenka Juříková, Ivan Litvinenko, Ivailo Tournev, Craig Dixon
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Purpose An increasing number of patients with Duchenne muscular dystrophy (DMD) now have access to improved standard of care and disease modifying treatments, which improve the clinical course of DMD and extend life expectancy beyond 30 year
Externí odkaz:
https://doaj.org/article/c6442b257adc4302b77772db2cd5492e
Autor:
Derek Atkinson, Teodora Chamova, Ayse Candayan, Kristina Kastreva, Ognian Asenov, Ivan Litvinenko, Alejandro Estrada-Cuzcano, Els De Vriendt, Georgi Kukushev, Ivailo Tournev, Albena Jordanova
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 16, p 9047 (2024)
Charcot–Marie–Tooth neuropathy type 4D (CMT4D) is a rare genetic disorder of the peripheral nervous system caused by biallelic mutations in the N-Myc Downstream Regulated 1 gene (NDRG1). Patients present with an early onset demyelinating peripher
Externí odkaz:
https://doaj.org/article/f5493306513e415384662d4c19a0b064
Autor:
Inna Morgunova, Petr Semenov, Anna Kursheva, Ivan Litvinenko, Sergey Malyshev, Sergey Bukin, Oleg Khlystov, Olga Pavlova, Tamara Zemskaya, Alexey A. Krylov
Publikováno v:
Geosciences, Vol 12, Iss 2, p 72 (2022)
This paper performs a detailed study of a wide set of organic-geochemical proxies in 15 sediment cores collected from the main basins of Lake Baikal (the northern, the central and the southern) where processes of focused fluid discharge were detected
Externí odkaz:
https://doaj.org/article/1abc5f110338457eadaf5d7b27ab8dd9
Autor:
Valentina Peycheva, Neviana Ivanova, Kunka Kamenarova, Irina Tsekova, Iliyana Aleksandrova, Veneta Bozhinova, Maria Bozhidarova, Ivan Litvinenko, Dimitrina Hristova, Vanyo Mitev, Radka Kaneva, Albena Jordanova
Publikováno v:
Biotechnology & Biotechnological Equipment, Vol 31, Iss 1, Pp 138-142 (2017)
Mutations in KCNQ2 are associated with a range of electroclinical syndromes with dominant inheritance that are differentiated by the age at onset of the seizures and are associated with good prognosis. These are benign familial neonatal seizures (BFN
Externí odkaz:
https://doaj.org/article/b4cbd5b19ca04e79bec8aa2f5c805ca1
Autor:
Tamara Dangouloff, Eva Vrščaj, Laurent Servais, Damjan Osredkar, Thierry Adoukonou, Omid Aryani, Nina Barisic, Fahad Bashiri, Laila Bastaki, Afaf Benitto, Tawfeg Ben Omran, Guenther Bernert, Enrico Bertini, Patricia Borde, Peter Born, Rose-Mary Boustani, Nina Butoianu, Claudia Castiglioni, Feriha Catibusic, Sophelia Chan, Yin Hsiu Chien, Kyproula Christodoulou, Donniphat Dejsuphong, Michelle Farrar, Duma Filip, Nathalie Goemans, Kokou Guinhouya, Jana Haberlova, Kinga Hadzsiev, Kristine Hovhannesyan, Pirjo Isohanni, Nelica Ivanovic Radovic, David Jacquier, Alusine Jalloh, Maria Jedrzejowska, Gwen Kandawasvika, Celestin Kaputu, Nfwama Kawatu, Kristin Kernohan, Jan Kirschner, Barbara Klink, Sherry Kodsy, Ange-Eric Kouame-Assouan, Ruzica Kravljanac, Madara Kreile, Ivan Litvinenko, Hugh McMillan, Sandra Mesa, Inaam Mohamed, Liljana Muaremoska Kanzoska, Yoram Nevo, Seraphin Nguefack, Kafula Nkole, Gina O'Grady, Declan O'Rourke, Maryam Oskoui, Flavia Piazzon, Dimitri Poddighe, Audrone Prasauskiene, Juan Prieto, Magnhild Rasmussen, Santara Razafindrasata, Narayan Saha, Kayoko Saito, Foksouna Sakadi, Modibo Sangare, Mary Schroth, Leanid Shalkevich, Andriy Shatillo, Renu Suthar, Lena Szabo, Nana Tatishvili, Meriem Tazir, Eduardo Tizzano, Haluk Topaloglu, Mar Tulinius, Ludo van der Pol, Gabriel Vazquez, Dimitry Vlodavets, Jithangi Wanigasinghe, Jo Wilmshurst, Hui Xiong, Dimitrios Zafeiriou, Eleni Zamba
Publikováno v:
Neuromuscular Disorders. 31:574-582
Spinal muscular atrophy (SMA) is a rare and devastating disease. New disease-modifying treatments have recently been approved and early treatment has been related to a better outcome. In this context, several newborn screening (NBS) programs have bee
Autor:
Anna Kursheva, E. Golikova, Inna Morgunova, Arina L. Maltseva, G. Batova, Ivan Litvinenko, Paul E. Renaud, Vera Petrova
Publikováno v:
30th International Meeting on Organic Geochemistry (IMOG 2021).
Summary The complex study of the organic matter (OM) and HC molecular markers in sediments and soils of the Arctic littoral is an important step to the environment protection. The study of polycyclic aromatic HCs (PAHs) is of particular interest due
Autor:
Vera Petrova, Alexey Krylov, Inna Morgunova, Ivan Litvinenko, P. Semenov, Oleg Khlystov, S. Malyshev, Anna Kursheva
Publikováno v:
30th International Meeting on Organic Geochemistry (IMOG 2021).
Summary The main idea of this study was to identify the background and anomaly distribution of hydrocarbon molecular markers in sediments of the lake Baikal and to define organic matter sources and specificity of its formation under the diagenetic an
Publikováno v:
30th International Meeting on Organic Geochemistry (IMOG 2021).
Summary The main idea was to investigate the composition of hydrocarbon (HC) molecular markers, as indicators of the origin of sedimentary material. The object of the study is bottom sediments collected from latitudinal transects stretching along the
Autor:
Arina L. Maltseva, Ivan Litvinenko, Inna Morgunova, Elena Golikova, Vera Petrova, Anna Kursheva
Publikováno v:
Goldschmidt2021 abstracts.
Autor:
Albena Jordanova, Vanyo Mitev, Maria Bojidarova, Valentina Peycheva, Elena Rodopska, E Simeonov, N Ivanova, Petia Dimova, Dimitar Stamatov, Iliana Pacheva, Daniela Deneva, Margarita V. Panova, Veneta Bojinova, D. Hristova, Ivan Litvinenko, Iliyana Aleksandrova, Elena Slavkova, Kunka Kamenarova, Radka Kaneva, Ivan Ivanov, Genoveva Tacheva
Publikováno v:
Turkish journal of pediatrics
Background. Dravet syndrome (DS) is the most severe form of Generalized Epilepsy with Febrile Seizures plus (GEFS+) syndrome with a clear genetic component in 85% of the cases. It is characterized by fever-provoked seizure onset around six months of