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150 research outcomes, page 4 of 15
  • publication . Other literature type . Article . 2018
    Open Access
    Persistent Identifiers
    Publisher: Publishing House ABV Press

    Carpal tunnel syndrome is the most frequent entrapment neuropathy. We performed a literature review of application of local corticosteroid injections. The main aim of the review is to outline the issues concerning indications for the treatment, efficiency and safety of ...

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  • publication . Article . 2015
    Open Access
    Persistent Identifiers
    Publisher: Publishing House ABV Press

    Fabry disease is an X-linked, lysosomal storage disease (OMIM: 301500), caused by α-galactosidase A deficiency, resulting in accumulation of its substrates, glycosphingolipids, primarily – globotriaosylceramide, in the lysosomes of multiple cell types with multi-system ...

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  • publication . Article . Other literature type . 2018
    Open Access Russian
    Persistent Identifiers
    Publisher: ABV-press

    <jats:p>The article outlines the current knowledge of the etiology, pathogenesis, clinical features and diagnostic criteria of one of the forms of mitochondrial encephalomyopathy – the Kearns–Sayre syndrome. The observation of a patient with an incomplete case of the Ke...

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  • publication . Article . 2015
    Open Access Russian
    Persistent Identifiers
    Publisher: ABV-press

    Many inherited neuromuscular disorders include cardiac involvement as a typical clinical feature. Among the most common of them is the group of muscular dystrophies. Dilated cardiomyopathy, ventricular arrhythmias, atrial fibrillations, atrioventricular and intraventric...

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  • publication . Article . Other literature type . 2019
    Open Access Russian
    Authors:
    Umnov, V. V.; Nikitina, N. V.; Khodorovskaya, A. M.; Barlova, O. V.;
    Persistent Identifiers
    Publisher: ABV-press

    <jats:p><jats:underline>The cardiofaciocutaneous syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The syndrome is caused by molecular disturbances in the RAS/MAPK pathway. We report on the girl, ...

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  • publication . Article . 2020
    Open Access Russian
    Authors:
    D. M. Guseva; E. L. Dadali;
    Persistent Identifiers
    Publisher: ABV-press

    <jats:p>The article describes the clinical and genetic characteristics of 2 patients from Russia with autosomal recessive primary microcephaly type 2,<jats:italic> </jats:italic>caused by previously described and newly identified mutations in the WDR62 gene. The data ob...

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  • publication . Article . Other literature type . 2018
    Open Access
    Persistent Identifiers
    Publisher: Publishing House ABV Press

    <jats:p>Over a half of chronic pain (CP) patients present with cognitive complaints, which increase their disability and impact quality of life. The paper reviews objective impairments in memory, attention, processing speed and executive function demonstrated in the CP ...

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  • publication . Other literature type . Article . 2019
    Open Access
    Persistent Identifiers
    Publisher: Publishing House ABV Press

    <jats:p>The article substantiates the need for the use of botulinum therapy in the management of bruxism as a movement disorder. We present the technique of injecting a new Russian botulinum neuroprotein Relatox into the masticatory muscles of patients with bruxism. We ...

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  • publication . Article . 2017
    Open Access
    Authors:
    N. A. Semenova; E. L. Dadali; A. A. Sharkov; I. A. Akimova;
    Persistent Identifiers
    Publisher: Publishing House ABV Press

    One of the most common neurological symptoms in children of the first year of life is seizures, the etiology of which is manifold. Investigations in recent years have shown that a significant number of infantile seizures are hereditary in nature. The review identifies t...

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150 research outcomes, page 4 of 15