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Items: 1 to 20 of 45

1.

Ataxia with Oculomotor Apraxia Type 4 with PNKP Common "Portuguese" and Novel Mutations in Two Belarusian Families.

Rudenskaya GE, Marakhonov AV, Shchagina OA, Lozier ER, Dadali EL, Akimova IA, Petrova NV, Konovalov FA.

J Pediatr Genet. 2019 Jun;8(2):58-62. doi: 10.1055/s-0039-1684008. Epub 2019 Mar 27.

PMID:
31061747
2.

Study of the genetic load and diversity of hereditary diseases in the Russian population of the Karachay-Cherkess Republic.

Zinchenko RA, Kadyshev VV, El'chinova GI, Marakhonov AV, Galkina VA, Dadali EL, Khlebnikova OV, Mikhailova LK, Petrova NV, Petrina NE, Vasilyeva TA, Gundorova P, Tanas AS, Strelnikov VV, Polyakov AV, Ginter EK.

Int J Mol Epidemiol Genet. 2018 Aug 20;9(4):34-42. eCollection 2018.

3.

Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum.

Marakhonov AV, Tabakov VY, Zernov NV, Dadali EL, Sharkova IV, Skoblov MY.

Gene. 2018 Sep 25;672:165-171. doi: 10.1016/j.gene.2018.06.026. Epub 2018 Jun 9.

PMID:
29894794
4.

[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.

Zh Nevrol Psikhiatr Im S S Korsakova. 2018;118(4):70-75. doi: 10.17116/jnevro20181184170-75. Russian.

PMID:
29863696
5.

Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders.

Marakhonov AV, Konovalov FA, Makaov AK, Vasilyeva TA, Kadyshev VV, Galkina VA, Dadali EL, Kutsev SI, Zinchenko RA.

BMC Med Genomics. 2018 Feb 13;11(Suppl 1):8. doi: 10.1186/s12920-018-0326-1.

6.

[Clinical and genetic characteristics of facioscapulohumeral muscular dystrophy Landuzi-Dezherina type 1].

Dadali EL, Sharkova IV, Zernov NV, Rudenskaya GE, Skoblov MY.

Zh Nevrol Psikhiatr Im S S Korsakova. 2017;117(11):122-128. doi: 10.17116/jnevro2017117111122-128. Russian.

PMID:
29265097
7.

[Genetics and treatment of early infantile epileptic encephalopathies].

Sharkov AA, Sharkova IV, Belousova ED, Dadali EL.

Zh Nevrol Psikhiatr Im S S Korsakova. 2016;116(9. Vyp. 2):67-73. doi: 10.17116/jnevro20161169267-73. Russian.

PMID:
28005050
8.

[Clinical/genetic characteristics of patients with congenital muscular dystrophy caused by mutations in the LMNA gene].

Dadali EL, Sharkova IV, Adyan TA, Milovidova TB, Polakov АV.

Zh Nevrol Psikhiatr Im S S Korsakova. 2016;116(1):70-75. doi: 10.17116/jnevro20161161170-75. Russian.

PMID:
26977629
9.

[The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias].

Ivanova EA, Dadali EL, Fedotov VP, Kurbatov SA, Rudenskaia GE, Proskokova TN, Poliakov AV.

Genetika. 2012 Sep;48(9):1113-23. Russian.

PMID:
23113340
10.

[Heterozygous carrier rate for type I-IV proximal spinal muscular atrophy in Chuvashes, Udmurts, and residents of the Moscow region].

Zabnenkova VV, Dadali EL, Spiridonova MG, Zinchenko RA, Poliakov AV.

Genetika. 2012 Aug;48(8):983-92. Russian.

PMID:
23035550
11.

[Clinical-genetic characteristics of hereditary motor-sensory neuropathy type 1 X].

Sharkova IV, Milovidova TB, Dadali EL, Poliakov AV.

Zh Nevrol Psikhiatr Im S S Korsakova. 2012;112(7):42-7. Russian.

PMID:
23011429
12.

[Clinical-genetic analysis of limb-girdle muscular dystrophy 2 type I].

Ryzhkova OP, Sharkova IV, Dadali EL, Petrunina EL, Poliakov AV.

Zh Nevrol Psikhiatr Im S S Korsakova. 2012;112(6):55-9. Russian.

PMID:
22983245
13.

[Hereditary motor and sensory neuropathy type 4A].

Shagina OA, Dadali EL, Fedotov VP, Tiburkova TB, Poliakov AV.

Zh Nevrol Psikhiatr Im S S Korsakova. 2010;110(5 Pt 1):13-6. Russian.

PMID:
21322820
14.

[Clinical-genetic correlations in the hereditary motor-sensor neuropathy caused by mutations in the MPZ (P0) gene].

Milovidova TB, Dadali EL, Fedotov VP, Shchagina OA, Poliakov AV.

Zh Nevrol Psikhiatr Im S S Korsakova. 2011;111(12):48-55. Russian.

PMID:
22433810
15.

[Merosin-deficient congenital muscular dystrophy].

Dadali EL, Rudenskaia GE, Shchagina OA, Tiburkova TB, Sukhorukov VS, Kharlamov DA, Poliakov AV.

Zh Nevrol Psikhiatr Im S S Korsakova. 2010;110(3):83-9. Russian. No abstract available.

PMID:
20607928
16.

[Clinical-genetic characteristics of limb girdle-muscular dystrophy type 2A].

Dadali EL, Shagina OA, Ryzhkova OP, Rudenskaia GE, Fedotov VP, Poliakov AV.

Zh Nevrol Psikhiatr Im S S Korsakova. 2010;110(4):79-83. Russian.

PMID:
20517216
17.

[Syndrome Leigh caused by mutations in the SURF1 gene: clinical and molecular-genetic characteristics].

Tsygankova PG, Mikhaĭlova SV, Zakharova EIu, Pichkur NA, Il'ina ES, Nikolaeva EA, Rudenskaia GE, Dadali EL, Kolpakchi LM, Fedoniuk ID, Matiushchenko GN.

Zh Nevrol Psikhiatr Im S S Korsakova. 2010;110(1):25-32. Russian.

PMID:
20436434
18.

[Genetic epidemiological study of Bashkortostan Republic: the diversity of monogenic hereditary diseases in five districts].

Zinchenko RA, Murzabaeva SSh, Grinberg IaI, Galkina VA, Khlebnikova OV, Dadali EL, Fedotov VP, Khidiiatova IM, Khusnutdinova EK, Ginter EK.

Genetika. 2009 May;45(5):677-90. Russian.

PMID:
19534428
19.

[Genetic epidemiological study of Bashkortostan Republic: the effect of genetic structure of population on the load of monogenic hereditary diseases].

Murzabaeva SSh, Zinchenko RA, Grinberg IaI, Galkina VA, Khlebnikova OV, Dadali EL, Fedotov VP, El'chinova GI, Terekhovskaia IG, Khidiiatova IM, Khusnutdinova EK, Ginter EK.

Genetika. 2009 Apr;45(4):546-54. Russian.

PMID:
19507708
20.

[Clinical, genealogical and molecular genetic study of Emery-Dreifuss muscular dystrophy].

Rudenskaia GE, Tverskaia SM, Chukhrova AL, Zakliaz'minskaia EV, Kuropatkina IuV, Dadali EL, Perminov VS, Poliakov AV.

Zh Nevrol Psikhiatr Im S S Korsakova. 2006;106(10):58-65. Russian.

PMID:
17117676

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