Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Magdalena Korwin"'
Autor:
Parvana Hajieva, Magdalena Korwin, Elona Jankauskaitė, Katarzyna Tońska, Anna M. Ambroziak, Monika Ołdak, Ewa Bartnik, Agata Kodroń
Publikováno v:
Journal of Applied Genetics
Leber’s hereditary optic neuropathy (LHON) is one of the most common mitochondrial diseases caused by point mutations in mitochondrial DNA (mtDNA). The majority of diagnosed LHON cases are caused by a point mutation at position 11,778 in the mitoch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28a2cdb613b2e2b0ade9346ec07b18c2
https://doi.org/10.1007/s13353-020-00550-y
https://doi.org/10.1007/s13353-020-00550-y
Publikováno v:
Haemophilia. 28
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d6ee5f13096b18b51bd7764efa75993a
https://doi.org/10.1111/hae.14468
https://doi.org/10.1111/hae.14468
Autor:
Monika Ołdak, Magdalena Korwin, Maciej R Krawczyński, Ewa Kosior-Jarecka, Ewa Bartnik, Agnieszka Piotrowska-Nowak, Katarzyna Tońska, Anna M. Ambroziak
Publikováno v:
Metabolic Brain Disease
Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder with symptoms limited to a single tissue, optic nerve, resulting in vision loss. In the majority of cases it is caused by one of three point mutations in mitochondrial DNA (mtDNA) b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::296693345db45e291cee5fdb61e94b7d
https://pubmed.ncbi.nlm.nih.gov/32740724
https://pubmed.ncbi.nlm.nih.gov/32740724
Autor:
Jacek P. Szaflik, Kamil Szulborski, Jerzy Szaflik, Anna M. Ambroziak, Magdalena Korwin, Piotr Stawiński, Dominika Oziębło, Aneta Ścieżyńska, Monika Ołdak, Rafał Płoski, Maciej R Krawczyński
Publikováno v:
Experimental Eye Research. 145:93-99
Variation in the ABCA4 locus has emerged as the most prevalent cause of monogenic retinal diseases. The study aimed to discover causative ABCA4 mutations in a large but not previously investigated cohort with ABCA4-related diseases originating from C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7c3e4c267612c4d6f437b42bb000ebd
https://doi.org/10.1016/j.exer.2015.11.011
https://doi.org/10.1016/j.exer.2015.11.011
Autor:
Ewa Langwińska-Wośko, Magdalena Korwin, Wojciech Kołodziejczyk, Piotr Skopiński, Małgorzata Woronkowicz, Anna M. Ambroziak
Publikováno v:
Videosurgery and other Miniinvasive Techniques
We present a case of successful multi-procedure management of a patient with an open globe injury. A 47-year-old man sustained an injury to his left eye caused by glass fragments of his own spectacles shattered while he was protecting an unknown woma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4e96a17ca3aa44cbf800a4befbadcfb
http://europepmc.org/articles/PMC3983540
http://europepmc.org/articles/PMC3983540
Publikováno v:
Gene. 555(1)
Leber hereditary optic neuropathy (LHON) is a genetic, maternally inherited disease caused by point mutations in the mitochondrial genome. LHON patients present with sudden, painless and usually bilateral loss of vision caused by optic nerve atrophy.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd3d25f62b064517733a92956e627c42
https://pubmed.ncbi.nlm.nih.gov/25261848
https://pubmed.ncbi.nlm.nih.gov/25261848
Autor:
Katarzyna Tońska, Jerzy Szaflik, Anna M. Ambroziak, Jacek P. Szaflik, Magdalena Korwin-Rujna, Marzena Kurzawa, Ewa Bartnik, Ewa Grabowska
Publikováno v:
Mitochondrion. 8(5-6)
Three mutations in mitochondrial DNA complex I genes are responsible for over 90% of Leber hereditary optic neuropathy (LHON) cases in Europe. A family with two LHON mutations--practically homoplasmic 11778G>A and varying levels of 3460G>A--was found
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5608ed9b379b8850028e172c3ee380ea
https://pubmed.ncbi.nlm.nih.gov/18801464
https://pubmed.ncbi.nlm.nih.gov/18801464