| Role of acidosis, NMDA receptors, and acid-sensitive ion channel 1a (ASIC1a) in neuronal death induced by ischemia NK Isaev, EV Stelmashook, EY Plotnikov, TG Khryapenkova, ER Lozier, ... Biochemistry (Moscow) 73, 1171-1175, 2008 | 46 | 2008 |
| De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy F Tran Mau-Them, L Guibaud, L Duplomb, B Keren, K Lindstrom, I Marey, ... Genetics in Medicine 21 (4), 1008-1014, 2019 | 41 | 2019 |
| De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features ER Lozier, FA Konovalov, IV Kanivets, DV Pyankov, PA Koshkin, ... Journal of Human Genetics 63 (8), 919-922, 2018 | 33 | 2018 |
| Role of glutamine in neuronal survival and death during brain ischemia and hypoglycemia EV Stelmashook, NK Isaev, ER Lozier, ES Goryacheva, LG Khaspekov International Journal of Neuroscience 121 (8), 415-422, 2011 | 25 | 2011 |
| Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features M Scala, GL Chua, CF Chin, HS Alsaif, A Borovikov, S Riazuddin, ... European Journal of Human Genetics 28 (11), 1509-1519, 2020 | 23 | 2020 |
| Glutamine-mediated protection from neuronal cell death depends on mitochondrial activity EV Stelmashook, ER Lozier, ES Goryacheva, P Mergenthaler, ... Neuroscience letters 482 (2), 151-155, 2010 | 22 | 2010 |
| Stimulation of kainate toxicity by zinc in cultured cerebellar granule neurons and the role of mitochondria in this process ER Lozier, EV Stelmashook, RE Uzbekov, SV Novikova, SD Zorov, ... Toxicology letters 208 (1), 36-40, 2012 | 16 | 2012 |
| Ataxia with oculomotor apraxia type 4 with PNKP common “Portuguese” and novel mutations in two Belarusian families GE Rudenskaya, AV Marakhonov, OA Shchagina, ER Lozier, EL Dadali, ... Journal of Pediatric Genetics 8 (02), 058-062, 2019 | 15 | 2019 |
| Glucose starvation stimulates Zn2+ toxicity in cultures of cerebellar granule neurons NK Isaev, ER Lozier, SV Novikova, DN Silachev, DB Zorov, ... Brain Research Bulletin 87 (1), 80-84, 2012 | 14 | 2012 |
| Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome A Filatova, M Freire Chadrina, E Lozier, F Konovalov, L Bessonova, ... Clinical Genetics 95 (3), 2018 | 5 | 2018 |
| Glucose deprivation potentiates toxicity of ouabain and glutamate in cortical neurons cultured for different time periods ER Lozier, AI Dzhanibekova, EV Stel’mashuk, AV Graf, DB Zorov, ... Neurochemical Journal 3, 202-206, 2009 | 5 | 2009 |
| Whole exome sequencing reveals novel EYS mutations in Russian patients with autosomal recessive retinitis pigmentosa MY Ivanova, D Atarshchikov, E Pomerantseva, E Tolmacheva, ... Investigative Ophthalmology & Visual Science 61 (7), 675-675, 2020 | 2 | 2020 |
| NGS-based newborn screening-results of sequencing 7000 healthy newborns J Shubina, E Lozier, D Maslennikov, I Mukosey, T Kochetkova, I Sadelov, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 701-701, 2024 | | 2024 |
| Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice VV Miroshnikova, PA Vasiluev, SV Linkova, VM Soloviov, ON Ivanova, ... Journal of Personalized Medicine 13 (10), 1492, 2023 | | 2023 |
| WES-based Screening for Every Newborn-the Future is Now E Tolmacheva, J Shubina, D Maslennikov, T Kochetkova, I Mukosey, ... | | 2023 |
| Molecular diagnosis of tuberous sclerosis complex in fetuses and infants: an institutional case series AS Bolshakova, DN Maslennikov, J Shubina, AA Bystritskiy, ... Journal of Clinical Pathology, 2023 | | 2023 |
| CAMK2D De Novo Missense Variant in Patient with Syndromic Neurodevelopmental Disorder: A Case Report ER Tolmacheva, J Shubina, TO Kochetkova, LV Ushakova, EL Bokerija, ... Genes 14 (6), 1177, 2023 | | 2023 |
| De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures TO Kochetkova, DN Maslennikov, ER Tolmacheva, J Shubina, ... Genes 14 (2), 366, 2023 | | 2023 |
| Lysosomal storage diseases as a cause of non-immune hydrops fetalis DG Lyushnina, NK Tetruashvili, J Shubina, NV Zaretskaya, ... Obstetrics and Gynecology, 78-86, 2023 | | 2023 |
| Diversity of CACNA1A-related disorders GE Rudenskaya, IG Sermyagina, AL Chukhrova, EL Dadali, ER Lozier, ... Zhurnal Nevrologii i Psikhiatrii Imeni SS Korsakova 121 (12), 106-111, 2021 | | 2021 |
Fedor KonovalovICBLVerified email at clinbio.ru
Fedor KonovalovICBLVerified email at clinbio.ru