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150 research outcomes, page 3 of 15
  • publication . Article . Other literature type . 2018
    Open Access Russian
    Authors:
    Kurbatov, S. A.; Milovidova, T. B.; Fedotov, V. P.; Murtazina, A. F.; Rudenskaya, G. E.; Shchagina, O. A.; Polyakov, A. V.;
    Persistent Identifiers
    Publisher: ABV-press

    <jats:p><jats:bold><jats:underline>Background. </jats:underline></jats:bold><jats:underline>Hereditary motor and sensory neuropathies (HMSN) are a genetically diverse group of disorders of the peripheral nerves characterized by gradual development of weakness, muscular ...

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

    Presents clinical case the hereditary progressive muscular dystrophy type 2A (calpainopathy). Shows diagnostic difficulties and feature of presents clinical observations. This case is significance, as in the domestic scientific literature presents few articles on clinic...

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

    The case of stiff-person syndrome with benign course in 16-years old patient is presented. The initial clinical signs of the disease were observed in infancy with retarded development of motor functions and skeleton muscle lumps. The diagnosis was made using generally a...

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  • publication . Article . Other literature type . 2020
    Open Access Russian
    Persistent Identifiers
    Publisher: ABV-press

    <jats:p>Tremor is the most common type of movement disorders. In practice this differential diagnosis of hyperkinesis is diagnosed clinically and the use of additional methods of objective assessment of tremor increases the accuracy of diagnosis. The use of paraclinical...

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  • publication . Article . 2016
    Open Access Russian
    Persistent Identifiers
    Publisher: ABV-press

    Diabetes mellitus is a widespread disease often affecting peripheral nervous system. This include diabetic autonomous neuropathy that can endanger the patient's life. Timely detection of complications of diabetes mellitus as well as its adequate therapy can improve prog...

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  • publication . Article . 2020
    Open Access
    Authors:
    V. M. Kenis; V. N. Komantsev; A. Yu. Dimitrieva; E. V. Melchenko; E. S. Morenko;
    Persistent Identifiers
    Publisher: Publishing House ABV Press

    <jats:p>Schwartz–Jampel syndrome (chondrodystrophic myotonia) is a monogenic genetic disorder, demonstrating unique coincidence of the features of skeletal dysplasia and neuromuscular disease. We present four clinical cases of Schwartz–Jampel syndrome. Principles of dia...

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  • The main legislative document of the organization of medical care in the Russian Federation “On fundamental healthcare principles in the Russian Federation” and points related to the rare (orphan) diseases are  discussed. The organization of care, rules for managing a f...

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  • publication . Article . 2019
    Open Access Russian
    Authors:
    Lukacs Zoltan; Paulina Nieves Cobos; Stephan Wenninger; Tracey Willis; Michela Guglieri; Marc Roberts; Rosaline Quinlivan; David Hilton-Jones; Teresinha Evangelista; Stephan Zierz; ...
    Persistent Identifiers
    Publisher: ABV-press

    .

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  • publication . Other literature type . Article . 2017
    Open Access
    Authors:
    Svetlana Khatkova; M. A. Akulov; O. R. Orlova; D. Yu. Usachev; A. S. Orlova; L. V. Krylova;
    Persistent Identifiers
    Publisher: Publishing House ABV Press

    Тип: статья в журнале - научная статья Язык: русский Том: 7 Номер: 3 Год: 2017 Страницы: 21-35 DOI: 10.17650/2222-8721-2017-7-3-21-35 ЖУРНАЛ: НЕРВНО-МЫШЕЧНЫЕ БОЛЕЗНИ Издательство: Издательский дом "АБВ-пресс" (Москва) ISSN: 2222-8721eISSN: 2413-0443 КЛЮЧЕВЫЕ СЛОВА: НИЖН...

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  • publication . Article . 2020
    Open Access
    Authors:
    E. P. Nuzhnyi; S. N. Illarioshkin;
    Persistent Identifiers
    Publisher: Publishing House ABV Press

    <jats:p>Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is a relatively poorly understood autosomal recessive neurodegenerative disease. The molecular basis of CANVAS was discovered only in 2019 and it is associated with the biallelic pentanucleoti...

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150 research outcomes, page 3 of 15