I. A. Akimova

Publications10
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Citations7
Highly Influential Citations0
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Ataxia with Oculomotor Apraxia Type 4 with PNKP Common "Portuguese" and Novel Mutations in Two Belarusian Families.
Ataxia with oculomotor apraxia type 4 (AOA4) is a rare autosomal recessive, PNKP -related disorder delineated in 2015 in Portugal. We diagnosed AOA4 by next generation sequencing (NGS) followed by… Expand
  • 3
Effect of Adrenoblockers on Slow (LF) Waves in Rabbit Heart Rate
Propranolol and atenolol were used to examine the role of the adrenergic system in the genesis of slow HR variations (waves) in rabbits, the animals characterized by pronounced sympathetic… Expand
  • 3
A new case of infantile‐onset hereditary spastic paraplegia with complicated phenotype (SPG61) in a consanguineous Russian family
SPG61 (OMIM: 615685) is an extremely rare form of complicated hereditary spastic paraplegia [1,2]. To date, only one family with SPG61 has been reported [3]. Here, we describe the second SPG61 case… Expand
  • 1
Clinical and genetic characteristics of new allele variants of the Mowat–Wilson syndrome caused by ZEB2 gene mutations
[New allelic variants of non-syndromic mental retardation of type 20 caused by mutations in the MEF2C gene].
AIM To determine clinical and genetic characteristics of patients with non-syndromic mental retardation (NMR), type 20 with autosomal dominant type of inheritance (OMIM: 613443). MATERIAL AND… Expand
[CADASIL syndrome: differential diagnosis with multiple sclerosis].
Two cases of clinical and MRI manifestations of genetically verified CADASIL syndrome in female patients under 40 years of age are presented. The primary misinterpretation of clinical data and the… Expand
Gillespiе syndrome, caused by previously undescribed mutation in the gene ITPR1
Gillespie syndrome is one of the rare monogenic syndromes characterized by a combination of congenital muscular hypotonia, delayed psychomotor and speech development, ataxia and hypoplasia of the… Expand
Spinal muscular atrophy with lower limbs phenotype: clinical and genetic description of novel mutation in the DYNC1H1 gene
Clinical and genetic characteristics and diagnosis of hereditary variants of neonatal epilepsy
Early epileptic encephalopathy associated with stxbp1 mutations: clinical description of nine novel mutation carriers