Zobrazeno 1 - 10
of 81
pro vyhledávání: '"Eray Dirik"'
Autor:
Gulten Tuncel, Burcin Sanlıdag, Eray Dirik, Tugba Baris, Mahmut Cerkez Ergoren, Sehime Gulsun Temel
Publikováno v:
Global Medical Genetics, Vol 10, Iss 03, Pp 240-246 (2023)
Spinal muscular atrophy (SMA) is a rare, recessively inherited neurodegenerative disorder caused by the presence of pathogenic variants in the SMN gene. As it is the leading inherited cause of infant mortality, identification of SMN gene pathogenic v
Externí odkaz:
https://doaj.org/article/d393add898a843b9b163c7108e2bbea4
Publikováno v:
Cyprus Journal of Medical Sciences. 6:273-278
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3996693aed6eab0b8525e5c5ef7be6b4
https://doi.org/10.5152/cjms.2021.953
https://doi.org/10.5152/cjms.2021.953
Publikováno v:
Cyprus Journal of Medical Sciences. :33-35
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::081df345851e37976587d63b7817bdd8
https://doi.org/10.5152/cjms.2018.325
https://doi.org/10.5152/cjms.2018.325
Autor:
Ceyhun Dalkan, Ozlem Sahaloglu, Nerin Bahceciler Onder, Burcin Sanlidag, Eray Dirik, Nilufer Gali
Publikováno v:
Iranian Journal of Pediatrics. 27
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::515f6b083cf900211c38106ae07d5af5
https://doi.org/10.5812/ijp.6504
https://doi.org/10.5812/ijp.6504
Autor:
Hannes Nobel, Aycan Ünalp, Sebahattin Cirak, Uluç Yiş, Pinar Bambul Heck, Gökhan Uyanik, Friedrich Ebinger, Lucy Feng, Deborah J. Morris-Rosendahl, Semra Hız Kurul, Francesco Muntoni, Ute Hehr, Erdener Özer, Eray Dirik, Martin Smitka, Katja Brocke, Handan Cakmakci, Caroline Sewry
Publikováno v:
Neuromuscular Disorders. 21:20-30
Six genes including POMT1, POMT2, POMGNTI, FKRP, Fukutin (FKTN) and LARGE encode proteins involved in the glycosylation of alpha-dystroglycan (alpha-DG). Abnormal glycosylation of alpha-DG is a common finding in Walker-Warburg syndrome (WWS), muscle-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e64bec7d5dc2b515a45f5a2b8760bf0
https://doi.org/10.1016/j.nmd.2010.08.007
https://doi.org/10.1016/j.nmd.2010.08.007
Publikováno v:
Pediatric Neurology. 41:435-439
We prospectively examined the effects of valproic acid on the endocrine system and metabolic variables in epileptic children. Patients with newly diagnosed idiopathic epilepsy were included in the study. Laboratory and clinical variables were assesse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::484a3fa768df0f25cb952bd5a93aff35
https://doi.org/10.1016/j.pediatrneurol.2009.06.003
https://doi.org/10.1016/j.pediatrneurol.2009.06.003
Publikováno v:
Epilepsy Research. 84:232-237
The aim of this study is to evaluate the erythrocyte lipid peroxidation and antioxidant enzyme levels in patients with newly diagnosed idiopathic epilepsy before treatment and in patients treated with valproic acid for idiopathic epilepsy. Twenty-fou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a63cdadc10fa77dec06d953ad161a46
https://doi.org/10.1016/j.eplepsyres.2009.02.003
https://doi.org/10.1016/j.eplepsyres.2009.02.003
Publikováno v:
Journal of Child Neurology. 24:895-898
Congenital myasthenic syndromes are a genetically and phenotypically heterogeneous group of hereditary disorders affecting neuromuscular junction. Mutations in the gene encoding choline acetyltransferase cause presynaptic defects. The missense mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb1ab847b58e7bfa31723c6c754953af
https://doi.org/10.1177/0883073808331083
https://doi.org/10.1177/0883073808331083
Publikováno v:
Eastern Mediterranean Health Journal. 15:230-234
Acute transverse myelitis is a rare but severe inflammatory demyelinating disorder that usually involves both sensory and motor tracts of the spinal cord [1]. It is characterized by rapid onset of paraplegia or tetraplegia, loss of sensation and sphi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c6d227f42f930db1da3c4c7c18b96d7
https://doi.org/10.26719/2009.15.1.230
https://doi.org/10.26719/2009.15.1.230
Publikováno v:
European Journal of Pediatrics. 167:973-978
Mycoplasma pneumoniae is an important pathogen which causes nervous system disorders during or after the course of a respiratory tract infection. The exact pathogenic mechanism which causes neurological disorders still remains unknown. Although menin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a01fe9ddcb4ba58cae5fbdc1a1283cdd
https://doi.org/10.1007/s00431-008-0714-1
https://doi.org/10.1007/s00431-008-0714-1