Dadali EL - Search Results

1

Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene.

Markova TV, Kenis V, Melchenko E, Guseva D, Osipova D, Galeeva N, Nagornova T, Dadali EL. Markova TV, et al. Among authors: dadali el. Mol Genet Genomic Med. 2022 May;10(5):e1904. doi: 10.1002/mgg3.1904. Epub 2022 Mar 21. Mol Genet Genomic Med. 2022. PMID: 35315254 Free PMC article.

2

Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene.

Markova T, Sparber P, Borovikov A, Nagornova T, Dadali E. Markova T, et al. Mol Genet Genomic Med. 2021 Mar;9(3):e1620. doi: 10.1002/mgg3.1620. Epub 2021 Feb 11. Mol Genet Genomic Med. 2021. PMID: 33570243 Free PMC article.

3

Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.

Markova T, Kenis V, Melchenko E, Osipova D, Nagornova T, Orlova A, Zakharova E, Dadali E, Kutsev S. Markova T, et al. Genes (Basel). 2022 Jan 13;13(1):137. doi: 10.3390/genes13010137. Genes (Basel). 2022. PMID: 35052477 Free PMC article.

4

Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.

Markova T, Kenis V, Melchenko E, Alieva A, Nagornova T, Orlova A, Ogorodova N, Shchagina O, Polyakov A, Dadali E, Kutsev S. Markova T, et al. Genes (Basel). 2022 Aug 24;13(9):1512. doi: 10.3390/genes13091512. Genes (Basel). 2022. PMID: 36140680 Free PMC article.

5

KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families.

Rudenskaya GE, Kadnikova VA, Ryzhkova OP, Bessonova LA, Dadali EL, Guseva DS, Markova TV, Khmelkova DN, Polyakov AV. Rudenskaya GE, et al. Among authors: dadali el. BMC Neurol. 2020 Aug 3;20(1):290. doi: 10.1186/s12883-020-01872-4. BMC Neurol. 2020. PMID: 32746806 Free PMC article.

6

[AP4-assocated hereditary spastic paraplegias].

Rudenskaya GE, Guseva DM, Mironovich OL, Kadnikova VA, Dadali EL, Komar'kov IF, Novoselova OG, Ryzhkova OP. Rudenskaya GE, et al. Among authors: dadali el. Zh Nevrol Psikhiatr Im S S Korsakova. 2021;121(2):71-78. doi: 10.17116/jnevro202112102171. Zh Nevrol Psikhiatr Im S S Korsakova. 2021. PMID: 33728854 Russian.

7

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.

Levchenko O, Dadali E, Bessonova L, Demina N, Rudenskaya G, Matyushchenko G, Markova T, Anisimova I, Semenova N, Shchagina O, Ryzhkova O, Zinchenko R, Galkina V, Voinova V, Nagieva S, Lavrov A. Levchenko O, et al. Int J Mol Sci. 2022 Jul 14;23(14):7764. doi: 10.3390/ijms23147764. Int J Mol Sci. 2022. PMID: 35887114 Free PMC article.

8

HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients.

Shchagina OA, Milovidova TB, Murtazina AF, Rudenskaya GE, Nikitin SS, Dadali EL, Polyakov AV. Shchagina OA, et al. Among authors: dadali el. Mol Biol Rep. 2020 Feb;47(2):1331-1337. doi: 10.1007/s11033-019-05238-z. Epub 2019 Dec 17. Mol Biol Rep. 2020. PMID: 31848916

9

[New allelic variants of non-syndromic mental retardation of type 20 caused by mutations in the MEF2C gene].

Anisimova IV, Dadali EL, Konovalov FA, Akimova IA. Anisimova IV, et al. Among authors: dadali el. Zh Nevrol Psikhiatr Im S S Korsakova. 2018;118(4):70-75. doi: 10.17116/jnevro20181184170-75. Zh Nevrol Psikhiatr Im S S Korsakova. 2018. PMID: 29863696 Russian.

10

The First Russian Patient with Native American Myopathy.

Murtazina A, Demina N, Chausova P, Shchagina O, Borovikov A, Dadali E. Murtazina A, et al. Genes (Basel). 2022 Feb 13;13(2):341. doi: 10.3390/genes13020341. Genes (Basel). 2022. PMID: 35205385 Free PMC article.

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