| Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A S Züchner, IV Mersiyanova, M Muglia, N Bissar-Tadmouri, J Rochelle, ... Nature genetics 36 (5), 449-451, 2004 | 1930 | 2004 |
| Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy OV Evgrafov, I Mersiyanova, J Irobi, L Van Den Bosch, I Dierick, CL Leung, ... Nature genetics 36 (6), 602-606, 2004 | 761 | 2004 |
| A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene IV Mersiyanova, AV Perepelov, AV Polyakov, VF Sitnikov, EL Dadali, ... The American Journal of Human Genetics 67 (1), 37-46, 2000 | 547 | 2000 |
| Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot‐Marie‐Tooth neuropathy patients IV Mersiyanova, SM Ismailov, AV Polyakov, EL Dadali, VP Fedotov, ... Human Mutation 15 (4), 340-347, 2000 | 134 | 2000 |
| Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications KM Johannesen, Y Liu, M Koko, CE Gjerulfsen, L Sonnenberg, J Schubert, ... Brain 145 (9), 2991-3009, 2022 | 122 | 2022 |
| A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21 SM Ismailov, VP Fedotov, EL Dadali, AV Polyakov, C Van Broeckhoven, ... European Journal of Human Genetics 9 (8), 646-650, 2001 | 112 | 2001 |
| Наследственные нервно-мышечные заболевания: диагностика и медико-генетическое консультирование ЕЛ Дадали Дис.… докт. мед. наук. М, 1999 | 37 | 1999 |
| Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy N Voisin, RE Schnur, S Douzgou, SM Hiatt, CF Rustad, NJ Brown, DL Earl, ... The American Journal of Human Genetics 108 (5), 857-873, 2021 | 28 | 2021 |
| Проксимальная спинальная мышечная атрофия типов I–IV: особенности молекулярно-генетической диагностики ВВ Забненкова, ЕЛ Дадали, АВ Поляков Нервно-мышечные болезни, 27-31, 2013 | 28 | 2013 |
| Epidemiology of hereditary diseases in the karachay-cherkess republic RA Zinchenko, AK Makaov, AV Marakhonov, VA Galkina, VV Kadyshev, ... International Journal of Molecular Sciences 21 (1), 325, 2020 | 27 | 2020 |
| 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 | 26 | 2020 |
| HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients OA Shchagina, TB Milovidova, AF Murtazina, GE Rudenskaya, SS Nikitin, ... Molecular Biology Reports 47 (2), 1331-1337, 2020 | 24 | 2020 |
| Наследственная патология органа зрения ОВ Хлебникова, ЕЛ Дадали М.: Авторская академия, 2014 | 23 | 2014 |
| Новая форма наследственной невропатии: болезнь Шарко-Мари-Тута типа 2F СН Иллариошкин, ЕЛ Дадали, ВП Федотов, ШМ Исмаилов, ... Нервные болезни, 42-46, 2005 | 23 | 2005 |
| Genotype phenotype correlation and variability in microcephaly associated with chorioretinopathy or familial exudative vitreoretinopathy MF Shurygina, JM Simonett, MA Parker, A Mitchell, F Grigorian, J Lifton, ... Investigative Ophthalmology & Visual Science 61 (13), 2-2, 2020 | 21 | 2020 |
| Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum AV Marakhonov, VY Tabakov, NV Zernov, EL Dadali, IV Sharkova, ... Gene 672, 165-171, 2018 | 21 | 2018 |
| 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 | 20 | 2021 |
| Генетика умственной отсталости АВ Лавров, АВ Банников, АИ Чаушева, ЕЛ Дадали Российский вестник перинатологии и педиатрии 61 (6), 13-20, 2016 | 20 | 2016 |
| Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders AV Marakhonov, FA Konovalov, AK Makaov, TA Vasilyeva, VV Kadyshev, ... BMC Medical Genomics 11, 91-95, 2018 | 19 | 2018 |
| Clinical-genetic characteristics of limb girdle-muscular dystrophy type 2A EL Dadali, OA Shagina, OP Ryzhkova, GE Rudenskaia, VP Fedotov, ... Zhurnal Nevrologii i Psikhiatrii Imeni SS Korsakova 110 (4), 79-83, 2010 | 19 | 2010 |
