Výsledky vyhledávání

Molecular genetic diagnosis of speech disorders in children

Autor: Lale A. Pak, Kirill V. Savostyanov, Lyudmila M. Kuzenkova, Alexander A. Pushkov, Ilya S. Zhanin, Eugeniya V. Uvakina

Publikováno v: L.O. Badalyan Neurological Journal. 3:7-13

Introduction. Speech disorders (SD) are one of the urgent problems of childhood neurology. Despite the long history of studying speech disorders in children, the use of modern instrumental research in the diagnosis, the use of various therapeutic tec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4c85cbdf3d014429b2fa596c4d71ec06
https://doi.org/10.46563/2686-8997-2022-3-1-7-13

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A clinical case of severe Duchenne muscular dystrophy caused by a nonsense mutation in the DMD gene in a girl

Autor: Tatyana V. Podkletnova, Olga B. Kondakova, Eugeniya V. Uvakina, Dariya A. Fisenko, Anastasiya A. Lyalina, Sophiya G. Popovich, Lyudmila M. Kuzenkova, Aleksey L. Kurenkov, Lale A. Pak, Bella I. Bursagova

Publikováno v: L.O. Badalyan Neurological Journal. 2:227-232

Duchenne muscular dystrophy (DMD) is a hereditary progressive muscular dystrophy, mainly manifested in boys, is characterized by the onset at an early age, gradual symmetrical atrophy of the striated musculature of the limbs, trunk, as well as damage

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::da3ce42c6f1a493da185a3aeda0b652d
https://doi.org/10.46563/2686-8997-2021-2-4-227-232

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Somatoneurological and psycho-pedagogical features of children with cerebral palsy in the context of their readiness for training in Paralympic sports

Autor: Lale A. Pak, Svetlana B. Lazurenko, Svetlana B. Makarova, Tatyana V. Sviridova, Lyudmila M. Kuzenkova, Alexey L. Kurenkov, Bella I. Bursagova, Tamara R. Chumbadze

Publikováno v: L.O. Badalyan Neurological Journal. 2:173-188

Introduction. Currently, Russia does not have a scientifically grounded medical and psychological support system for disabled children (DC), which allows involving them in classes in children and youth schools of adaptive physical education, preparin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::416e9cee8aaad163e3b0239e2f37cae0
https://doi.org/10.46563/2686-8997-2021-2-4-173-188

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Differential diagnosis of Duchenne muscular dystrophy

Autor: Aleksey A. Pushkov, Alexey Kurenkov, Tatyana Podkletnova, Olga B. Kondakova, Lale A. Pak, Iulia I. Davydova, Dmitry I. Grebenkin, Kirill Savostyanov, L. M. Kuzenkova, Anastasiya A. Lyalina, Bella Bursagova

Publikováno v: L.O. Badalyan Neurological Journal. 2:159-166

Duchenne muscular dystrophy (DMD) is a disease with an X-linked recessive type of inheritance, belonging to a group of disorders with primary muscle damage, caused by pathogenic variants in the DMD gene and associated with dysfunction of the dystroph

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bda7687ad9b56a0b01196060a08d7223
https://doi.org/10.46563/2686-8997-2021-2-3-159-166

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Algorithm for the diagnosis of breathing disorders during sleep in children with neurological pathology

Autor: Lale A. Pak, Andrey A. Gazaryan, Irina K. Filimonova, Vladislav V. Lebedev, Lyudmila M. Kuzenkova, Eka Abashidze, Olga Kozhevnikova, Victoriya A. Aysina

Publikováno v: L.O. Badalyan Neurological Journal. 2:73-82

Introduction. Sleep disorders in children with nervous system pathology are more pronounced than in the general population. One of the most common causes of sleep disorders in children is sleep-disordered breathing. The aim of our study was to create

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8e1028ff13e7932c2c7bf14c3b73332b
https://doi.org/10.46563/2686-8997-2021-2-2-73-82

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Clinical experience of replacing enzyme replacement therapy in a patient with mucopolysaccharidosis type II

Autor: L. M. Kuzenkova, Tatyana Podkletnova, Oksana A. Ereshko, Lale A. Pak

Publikováno v: L.O. Badalyan Neurological Journal. 1:242-247

Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an inherited chronic progressive lysosomal disease associated with recessive X-linked inheritance. MPS II is classified as an orphan disease and occurs at a rate of 1.3 per 100,000 white boys

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dd91f7a8e04a0ce12e3424a7e6b2e3ac
https://doi.org/10.17816/2686-8997-2020-1-4-242-247

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Infantile parkinsonism-dystonia, type 1 (case report)

Autor: Olga B. Kondakova, Anastasia A. Lyalina, Dmitry I. Grebenkin, Lale A. Pak, Polina G. Tsygankova, Natalia V. Lapshina, L. M. Kuzenkova, Ilya V. Kanivets

Publikováno v: L.O. Badalyan Neurological Journal. 1:232-241

Infantile parkinsonism-dystonia, type 1 (DTDS) (OMIM 613135) is a rare inherited autosomal recessive disease that manifests in infancy. The development of the disease is caused by a homozygous or compound-heterozygous mutation in theSLC6A3gene (OMIM

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e523784ce28a9cd52ef7009ec8646337
https://doi.org/10.17816/2686-8997-2020-1-4-232-241

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RATIONALE FOR EXPANDING THE LIST OF SPECIALIZED SPECIALISTS PROVIDING SPECIALIZED ASSISTANCE TO CHILDREN WITH CEREBRAL PALSY

Autor: S. G. Makarova, A. P. Fisenko, Lale A. Pak, L. M. Kuzenkova

Publikováno v: Russian Pediatric Journal. 22:68-74

In the article, the authors present results of their own clinical study, on the basis of which the need to involve doctors of various specialties to accompany children with cerebral palsy is scientifically justified.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e0661379f40b6822f57a87df71dde746
https://doi.org/10.18821/1560-9561-2019-22-2-68-74

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CEREBRAL PALSY: CLINICAL AND INSTRUMENTAL CHARACTERISTICS

Autor: A. P. Fisenko, Lale A. Pak, L. M. Kuzenkova, A. L. Kurenkov

Publikováno v: Russian Pediatric Journal. 22:4-11

There are presented own data of comprehensive clinical and instrumental examination of cerebral palsy (CP) patients. The study included 313 patients (183 boys and 130 girls) aged from 1 year to 18 years, with the established diagnosis of CP (ICD 10 c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7e38c00e73af102ee4d9d739c4b8e59f
https://doi.org/10.18821/1560-9561-2019-22-1-4-11

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