| Manifestation of Huntington’s disease pathology in human induced pluripotent stem cell-derived neurons ED Nekrasov, VA Vigont, SA Klyushnikov, OS Lebedeva, EM Vassina, ... Molecular neurodegeneration 11 (1), 27, 2016 | 174 | 2016 |
| Molecular Pathogenesis in Huntington’s Disease SN Illarioshkin, SA Klyushnikov, VA Vigont, YA Seliverstov, ... Biochemistry (Moscow) 83 (9), 1030-1039, 2018 | 77 | 2018 |
| Molecular genetic analysis of essential tremor SN Illarioshkin, RA Rakhmonov, IA Ivanova-Smolenskaya, A Brice, ... Russian Journal of Genetics 38 (12), 1447-1451, 2002 | 58 | 2002 |
| Spinocerebellar ataxia type 1 in Russia SN Illarioshkin, PA Slominsky, IV Ovchinnikov, ED Markova, NI Miklina, ... Journal of neurology 243 (7), 506-510, 1996 | 57 | 1996 |
| Alpha–theta border EEG abnormalities in preclinical Huntington's disease N Ponomareva, S Klyushnikov, N Abramycheva, D Malina, N Scheglova, ... Journal of the neurological sciences 344 (1-2), 114-120, 2014 | 54 | 2014 |
| Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry MS Protasova, AP Grigorenko, TV Tyazhelova, TV Andreeva, ... European Journal of Human Genetics 24 (4), 550, 2016 | 37 | 2016 |
| New mutations in the Notch3 gene in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) N Abramycheva, M Stepanova, L Kalashnikova, M Zakharova, ... Journal of the neurological sciences 349 (1-2), 196-201, 2015 | 32 | 2015 |
| ITPR1 gene p. Val1553Met mutation in Russian family with mild spinocerebellar ataxia MI Shadrina, MV Shulskaya, SA Klyushnikov, T Nikopensius, M Nelis, ... Cerebellum & ataxias 3 (1), 2, 2016 | 30 | 2016 |
| STIM2 mediates excessive store-operated calcium entry in patient-specific iPSC-derived neurons modeling a juvenile form of Huntington's disease VA Vigont, DA Grekhnev, OS Lebedeva, KO Gusev, EA Volovikov, ... Frontiers in cell and developmental biology 9, 2021 | 28 | 2021 |
| Different phenotypes of Friedreich's ataxia within one ‘pseudo‐dominant’genealogy: relationships between trinucleotide (GAA) repeat lengths and clinical features SN Illarioshkin, GK Bagieva, SA Klyushnikov, IV Ovchinnikov, ... European journal of neurology 7 (5), 535-540, 2000 | 28 | 2000 |
| Patient-specific iPSCs-based models of Huntington’s disease as a tool to study store-operated calcium entry drug targeting V Vigont, E Nekrasov, A Shalygin, K Gusev, S Klyushnikov, S Illarioshkin, ... Frontiers in Pharmacology 9, 696, 2018 | 26 | 2018 |
| Clinical and genetic characteristics of late-onset Huntington's disease M Oosterloo, EK Bijlsma, SMJ van Kuijk, F Minkels, EM Christine, ... Parkinsonism & related disorders, 2018 | 25 | 2018 |
| Семейный случай атаксии с окуломоторной апраксией: первое наблюдение в российской популяции SA Klyushnikov, SN Illarioshkin, ED Markova, NA Glotova, PA Fedin, ... «АННАЛЫ КЛИНИЧЕСКОЙ И ЭКСПЕРИМЕНТАЛЬНОЙ НЕВРОЛОГИИ» 1 (2), 2017 | 19* | 2017 |
| A 30-year history of MPAN case from Russia M Selikhova, E Fedotova, S Wiethoff, LV Schottlaender, S Klyushnikov, ... Clinical neurology and neurosurgery 159, 111-113, 2017 | 14 | 2017 |
| Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes IO Bychkov, YS Itkis, PG Tsygankova, TD Krylova, SV Mikhaylova, ... Mitochondrion 57, 205-212, 2021 | 11 | 2021 |
| A platform for studies of Huntington’s disease on the basis of induced pluripotent stem cells ED Nekrasov, OS Lebedeva, EM Vasina, AN Bogomazova, IV Chestkov, ... Ann. Clin. Exp. Neurol 6, 30-35, 2012 | 11 | 2012 |
| Differential diagnosis of chorea: case study EN Yudina, RN Konovalov, PA Fedin, SA Klyushnikov, SN Illarioshkin Atmosfera. Nervnye bolezni 3, 36-9, 2011 | 10 | 2011 |
| Molecular genetic analysis of hereditary neurodegenerative diseases SN Illarioshkin, IA Ivanova-Smolenskaya, ED Markova, MI Shadrina, ... Russian Journal of Genetics 40 (6), 663-671, 2004 | 10 | 2004 |
| MOLECULAR-GENETIC TESTING IN DIAGNOSIS OF SPORADIC CASES OF HUNTINGTON'S DISEASE IA IVANOVA-SMOLENSKAYA, IV OVCHINNIKOV, SN ILLARIOSHKIN, ... | 9* | |
| an original Target Genetic Panel to Diagnose neurodegenerative Diseases on the Basis of next-Generation sequencing: First experience NY Abramycheva, EY Fedotova, SA Klyushnikov, VV Ustinova, ... Современные технологии в медицине 8 (4), 2016 | 7 | 2016 |
