Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Gocha Chikvinidze"'
Autor:
Kakha Bregvadze, Luka Abashishvili, Nana Nino Tatishvili, Teona Shatirishvili, Ana Bedoshvili, Gocha Chikvinidze, Arndt Rolfs, Volha Skrahina, Tinatin Tkemaladze
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder caused by mutations in SMN1, with disease severity influenced by the number of SMN2 copies. Although SMA is one of the most common autosomal recessive disorders, molecular diagnosi
Externí odkaz:
https://doaj.org/article/24e1825908d8495fad3fd8972f4f4078
Autor:
Nino Epitashvili, Thierry Bienvenu, Svetlana Gataullina, Nazi Tabatadze, Olivier Dulac, Gia Melikishvili, Gocha Chikvinidze
Publikováno v:
Epilepsy & Behavior. 94:308-311
Eight patients, seven girls and one boy, had CDKL5 gene mutation, duplication, or deletion. Epileptic spasms started at a mean age of 3.5 months (range = 4 weeks–8 months). In five cases, tonic seizures preceded spasms at a median age of 6 weeks. I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8d167f9ae958b46004ab277acf92532
https://doi.org/10.1016/j.yebeh.2019.02.013
https://doi.org/10.1016/j.yebeh.2019.02.013