Zobrazeno 1 - 4
of 4
pro vyhledávání: '"L. S. Kraeva"'
Autor:
L. S. Kraeva, E. V. Fadeeva
Publikováno v:
Нервно-мышечные болезни, Vol 14, Iss 3, Pp 102-107 (2024)
Duchenne muscular dystrophy is a severe genetic disease caused by mutations in the dystrophin gene (DMD), which lead to a significant decrease or complete absence of the protein of the same name in muscle fibers. The disease manifests itself in boys
Externí odkaz:
https://doaj.org/article/9a0d42f4cb8e4d72b1968614215d21b3
Publikováno v:
Бюллетень сибирской медицины, Vol 18, Iss 4, Pp 244-248 (2020)
Neuronal ceroid lipofuscinoses (NCL, Batten disease) are a group of inherited neurodegenerative diseases characterized by age-related onset, progressive myoclonus epilepsy, visual impairment and progressive intellectual and motor disorders. In all fo
Externí odkaz:
https://doaj.org/article/65090b229f174cc0ba1ca3377403173b
Publikováno v:
Бюллетень сибирской медицины, Vol 18, Iss 4, Pp 239-243 (2020)
Lafora disease is a hereditary, autosomal recessive progressive myoclonus epilepsy caused by mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no substantial genotype-phenotype differences between the two. Clinical manifestations of the
Externí odkaz:
https://doaj.org/article/d5d80d1885ce48058f210f869b87d6d8
Publikováno v:
Chemistry and Technology of Fuels and Oils. 11:950-954
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e14eee45a5b9dcb973648c8cfe3c8b02
https://doi.org/10.1007/bf01167680
https://doi.org/10.1007/bf01167680