Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Eleni Mavrikiou"'
Autor:
Adebayo Oladimeji, George Christopoulos, Anthi Drousiotou, Ichiro Ueno, Violetta Anastasiadou, Theodoros Georgiou, Kunihiko Suzuki, Panayiotis A. Ioannou, Kenichi Furihata, Gabriel Kalakoutis, Anthony H. Fensom, Goula Stylianidou, Eleni Mavrikiou, Yoji Hara
Publikováno v:
Human Genetics. 107:12-17
In the last 15 years, four patients with the infantile form of Sandhoff disease were diagnosed in four different families in Cyprus (population 703,000, birth rate 1.7%). Three of these cases came from the Christian Maronite community (less than 1% o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b45e4894de3fef2ca710f4cdbdbe75eb
https://doi.org/10.1007/s004390000324
https://doi.org/10.1007/s004390000324
Publikováno v:
Human molecular genetics. 15(10)
Although there is good experimental data that utrophin, the autosomal analog of dystrophin, can ameliorate the phenotype in dystrophinopathies, there is scant evidence from human data to support this hypothesis. We investigated in diagnostic muscle b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b71415e92d8f8232cecf081d5e002cba
https://pubmed.ncbi.nlm.nih.gov/16595608
https://pubmed.ncbi.nlm.nih.gov/16595608
Autor:
George Christopoulos, Theodoros Georgiou, Tassos C. Kyriakides, Eleni Mavrikiou, Lefkos T. Middleton, A. Argyriou, Anthi Drousiotou, Panos Ioannou, M. Voyasianos
Publikováno v:
Genetic testing. 2(1)
The objectives of this study were to evaluate a novel semiquantitative application of the bioluminescence test for screening newborns for Duchenne muscular dystrophy (DMD) and to use this technique in a pilot national program. The study was performed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e429968a4c7064a82fa5175c91048bd7
https://pubmed.ncbi.nlm.nih.gov/10464597
https://pubmed.ncbi.nlm.nih.gov/10464597