Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Ekaterina R, Lozier"'
Autor:
Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Hao Fan, Yasser Sabr, Cheen Fei Chin, Emer O'Connor, Henry Houlden, Saima Riazuddin, Hessa S. Alsaif, David L. Silver, Elena L. Dadali, Yalda Jamshidi, Artem Borovikov, Galina Baydakova, F. A. Konovalov, Reza Maroofian, Fowzan S. Alkuraya, Mehran Beiraghi Toosi, M. Chiara Manzini, Mariasavina Severino, Federico Zara, Alvin Kuk, Abdullah Alfaifi, Ekaterina R. Lozier, Farah Ashrafzadeh, Marcello Scala, Geok Lin Chua, Mohammad Doosti, Sheikh Riazuddin
Publikováno v:
Eur J Hum Genet
Web of Science
Web of Science
Major Facilitator Superfamily Domain containing 2a (MFSD2A) is an essential endothelial lipid transporter at the blood-brain barrier. Biallelic variants affecting function in MFSD2A cause autosomal recessive primary microcephaly 15 (MCPH15, OMIM# 616
Autor:
Ekaterina R. Lozier, O. A. Shchagina, Nika V. Petrova, Andrey V. Marakhonov, Elena L. Dadali, Galina E Rudenskaya, Irina A Akimova, F. A. Konovalov
Publikováno v:
Journal of Pediatric Genetics. :058-062
Ataxia with oculomotor apraxia type 4 (AOA4) is a rare autosomal recessive, PNKP-related disorder delineated in 2015 in Portugal. We diagnosed AOA4 by next generation sequencing (NGS) followed by Sanger's sequencing in three boys from two unrelated B
Autor:
Laurent Guibaud, Kristin Lindstrom, F. Tran Mau-Them, Alice Masurel, John M. Graham, Yannis Duffourd, Renske Oegema, A. A. Sharkov, Markus Zweier, M. J. van den Boogaard, Thibaud Jouan, Ekaterina R. Lozier, Agnes Chen, M. T. Cho, Sergey Korostelev, Laurence Faivre, Henry J. Lin, F. A. Konovalov, Anaïs Begemann, Patricia I. Dickson, Jennifer Friedman, K.L.I. van Gassen, Boris Keren, Laurence Duplomb, C. Thauvin-Robinet, Moin Vera, Isabelle Marey, Margaret G. Au, Christophe Philippe, Thomas Schmitt-Mechelke, Floor E. Jansen, B. Urteaga, Caroline Nava, Stan F. Nelson, Julian A. Martinez-Agosto, Anita Rauch, Fanny Mochel, Antonio Vitobello
Publikováno v:
Genetics in Medicine, 21(4), 1008. Lippincott Williams and Wilkins
Purpose: Developmental and epileptic encephalopathies (DEEs) are severe clinical conditions characterized by stagnation or decline of cognitive and behavioral abilities preceded, accompanied or followed by seizures. Because DEEs are clinically and ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83b1b30225d1bce3f186d400623a2b18
https://dspace.library.uu.nl/handle/1874/392185
https://dspace.library.uu.nl/handle/1874/392185
Autor:
Galina E, Rudenskaya, Andrey V, Marakhonov, Olga A, Shchagina, Ekaterina R, Lozier, Elena L, Dadali, Irina A, Akimova, Nika V, Petrova, Fedor A, Konovalov
Publikováno v:
J Pediatr Genet
Ataxia with oculomotor apraxia type 4 (AOA4) is a rare autosomal recessive, PNKP -related disorder delineated in 2015 in Portugal. We diagnosed AOA4 by next generation sequencing (NGS) followed by Sanger's sequencing in three boys from two unrelated
Autor:
Ekaterina R. Lozier, Sergey Korostelev, Elena Iudina, F. A. Konovalov, Valeria Freire, Mikhail Skoblov, Valentina Gnetetskaya, Ilya V. Kanivets, Alexandra Filatova, Ludmila Bessonova
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::920c91939d8a536f99f9e4f55f7165c2
https://doi.org/10.1111/cge.13472/v2/response1
https://doi.org/10.1111/cge.13472/v2/response1
Autor:
Ekaterina R. Lozier, Valeria Freire, Valentina Gnetetskaya, F. A. Konovalov, Ludmila Bessonova, Mikhail Skoblov, Sergey Korostelev, Ilya V. Kanivets, Alexandra Filatova, Elena Iudina
Publikováno v:
Clinical genetics. 95(3)
Autor:
Irina B. Alieva, Rustem Uzbekov, Elena V. Stelmashook, Svetlana Novikova, Brigitte Arbeille, S. D. Zorov, Nickolay K. Isaev, Ekaterina R. Lozier, Dmitry B. Zorov
Publikováno v:
Toxicology Letters. 208:36-40
Zinc chloride (0.01 mM kept for 3h) is not toxic to cultured cerebellar granule neurons (CGNs) while kainate (0.1mM kept for 3h) demonstrates some but very low toxicity towards these cells. Measurements of the relative intraneuronal zinc ion concentr
Autor:
Elena V. Stelmashook, E. S. Goryacheva, Nickolay K. Isaev, Ekaterina R. Lozier, Leonid G. Khaspekov
Publikováno v:
International Journal of Neuroscience. 121:415-422
In this review, we discuss the role of glutamine in the nervous system as a precursor of the excitatory neuromediator glutamate, on one hand, and as an energy substrate for mitochondria in nerve and glial cells during normal and pathological processe
Autor:
Philipp Mergenthaler, Nickolay K. Isaev, Elena V. Stelmashook, E. S. Goryacheva, Dmitry B. Zorov, Ekaterina R. Lozier, Svetlana Novikova
Publikováno v:
Neuroscience Letters. 482:151-155
The specific aim of this study was to elucidate the role of mitochondria in a neuronal death caused by different metabolic effectors and possible role of intracellular calcium ions ([Ca(2+)](i)) and glutamine in mitochondria- and non-mitochondria-med
Autor:
E. V. Stel’mashuk, Anastasia Graf, A. I. Dzhanibekova, Dmitry B. Zorov, Ekaterina R. Lozier, N. A. Sokolova, Nickolay K. Isaev
Publikováno v:
Neurochemical Journal. 3:202-206
The addition of glutamate (Glu) to culture medium for 24 hours induced the dose-dependent death of rat cortical neurons cultured for 9–10 days and did not affect neurons cultured for 4–5 days; this suggests that the later neurons are neurochemica