Zobrazeno 1 - 10
of 89
pro vyhledávání: '"Ozlem M, Herguner"'
Autor:
Faruk Incecik, Sibel Balci, Rabia Miray Kisla Ekinci, Ozlem M Herguner, Atil Bisgin, Mustafa Yilmaz
Publikováno v:
Annals of Indian Academy of Neurology, Vol 23, Iss 5, Pp 699-703 (2020)
Three prime repair exonuclease 1 (TREX1) degrades single- and double-stranded DNA with 3’-5’ exonuclease activity. TREX1 mutations are related to type 1 interferon-mediated autoinflammation owing to accumulated intracellular nucleic acids. Severa
Externí odkaz:
https://doaj.org/article/4b7cfba5ccfb4792ae03363261cd1f54
Publikováno v:
Annals of Indian Academy of Neurology, Vol 23, Iss 6, Pp 802-804 (2020)
Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders with a progressive extrapyramidal syndrome and excessive iron deposition in the brain, particularly in the globus pallidus and substantia nigra. Mitochondrial membr
Externí odkaz:
https://doaj.org/article/8dcba0312f454376912fcd9d442d49fd
Publikováno v:
Annals of Indian Academy of Neurology, Vol 23, Iss 3, Pp 399-401 (2020)
Externí odkaz:
https://doaj.org/article/82968378a05b4b6a84d6d6da1e2990dd
Publikováno v:
Annals of Indian Academy of Neurology, Vol 21, Iss 1, Pp 68-70 (2018)
Hereditary cerebellar ataxias are genetically heterogeneous disorders. Autosomal recessive spinocerebellar ataxia-21 (SCAR21) is a neurologic disorder characterized by the onset of cerebellar ataxia, recurrent episodes of liver failure, peripheral ne
Externí odkaz:
https://doaj.org/article/72a18544357248a38ddbe316eead75e3
Autor:
Faruk Incecik, Ozden O Horoz, Ozlem M Herguner, Dincer Yıldızdas, Seyda Besen, Ilknur Tolunay, Sakir Altunbasak
Publikováno v:
Annals of Indian Academy of Neurology, Vol 19, Iss 1, Pp 79-82 (2016)
Background: To report the effectiveness and safety of intravenous (IV) levetiracetam (LEV) in the treatment of critically ill children with acute repetitive seizures and status epilepticus (SE) in a children′s hospital. Materials and Methods: We re
Externí odkaz:
https://doaj.org/article/9d646cccacd84d7eb9bef36313b17331
Publikováno v:
Çukurova Üniversitesi Tıp Fakültesi Dergisi, Vol 40, Iss 3, Pp 504-509 (2015)
Purpose: Two forms of idiopathic occipital lobe epilepsy can be distinguished: an early onset or Panayiotopoulos type (PS), and a late onset or Gastaut type (GS). The aim of this study was to identify clinical manifestations and outcome in Turkish ch
Externí odkaz:
https://doaj.org/article/b0797ebb1e77430dbec8994fb85f212b
Autor:
Faruk incecik, Ozlem M. Herguner, Seyda Besen, Zeliha Ucar Haytoglu, Mustafa Yilmaz, sakir Altunbasak
Publikováno v:
Çukurova Üniversitesi Tıp Fakültesi Dergisi, Vol 40, Iss 1, Pp 75-78 (2015)
Familial Mediterranean fever (FMF) is an autosomal recessive polysystemic disease characterized by attacks of relapsing and self-limiting fever, peritonitis, pleuritis and arthritis. Caf and eacute;-au lait macules, neurofibromas, axillary and inguin
Externí odkaz:
https://doaj.org/article/f71285a1f2014c06b2f5c9dc27f3667a
Publikováno v:
Çukurova Üniversitesi Tıp Fakültesi Dergisi, Vol 39, Iss 2, Pp 343-346 (2014)
Trisomy 9 syndrome is a rare genetic disorder. Trisomy 9 has two forms; 1) mosaic, 2) non-mosaic. The patients usually present similar clinical features, independent of the presence of mosaicism, characterized by growth retardation, mental deficiency
Externí odkaz:
https://doaj.org/article/91295e1f6ac94ea0a1b08fe8c634d36f
Publikováno v:
Çukurova Üniversitesi Tıp Fakültesi Dergisi, Vol 40, Iss 3, Pp 601-603 (2015)
Guillain-Barr and eacute; syndrome (GBS) is the most common cause of acute flaccid paralysis in childhood. Symmetric weakness, headache, respiratory symptom, neuropathic pain, muscle pain, paresthesia, and facial palsy were the most common clinical p
Externí odkaz:
https://doaj.org/article/47b649d38f2448da9b34fcd9398114e7
Autor:
Faruk incecik, Ozlem M Herguner, Gulen Mert, seyda Besen, Deniz Kor, Berna S. Yilmaz, Neslihan O. Mungan, sakir Altunbasak
Publikováno v:
Çukurova Üniversitesi Tıp Fakültesi Dergisi, Vol 40, Iss 1, Pp 5-7 (2015)
McArdle's disease, defined by the lack of functional glycogen phosphorylase in striated muscle, is inherited as an autosomal recessive trait. Patients typically suffer from reduced exercise tolerance, with muscle cramps and pain provoked by exercise,
Externí odkaz:
https://doaj.org/article/7496d661b2314de995e66e393c6f3470