Search Results - "Serdaroǧlu, Esra"

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    Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia by Ousingsawat, Jiraporn, Talbi, Khaoula, Gómez-Martín, Hilario, Koy, Anne, Fernández-Jaén, Alberto, Tekgül, Hasan, Serdaroğlu, Esra, Schreiber, Rainer, Ortigoza-Escobar, Juan Dario, Kunzelmann, Karl

    Published in Brain (London, England : 1878) (03-06-2024)
    “…Anoctamin 3 (ANO3) belongs to a family of transmembrane proteins that form phospholipid scramblases and ion channels. A large number of ANO3 variants were…”
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    Journal Article
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    A patient with neurofibromatosis type 1 and myotonic dystrophy type 1 by Serdaroglu, Esra, Gunbey, Ceren, Anlar, Banu

    Published in Neurology Asia (01-06-2022)
    “…The association of two neurological disorders in one patient can result in diagnostic delay despite the presence of well known clinical features. We present…”
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    Journal Article
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    Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect by Yalnızoǧlu, Dilek, Özgül, R. Köksal, Oǧuz, Kader K., Özer, Buǧra, Yücel‐Yılmaz, Didem, Gürbüz, Berrak, Serdaroǧlu, Esra, Erol, İlknur, Topçu, Meral, Dursun, Ali

    Published in Journal of inherited metabolic disease (01-03-2019)
    “…MBOAT7 gene codes O‐acyltransferase domain containing seven proteins which is one of four enzymes involved in remodeling of phosphoinositol phosphate (PIP) in…”
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    Journal Article
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    Autoimmune Epilepsy and/or Limbic Encephalitis Can Lead to Changes in Sleep Spindles by Serdaroğlu, Esra, Tezer, F İrsel, Saygi, Serap

    Published in Noro-Psikiyatri Arsivi (01-12-2018)
    “…Sleep disorders have been described in patients with autoimmune limbic encephalitis (LE). The changes in sleep structure were also reported. Recently sleep…”
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    Parental perception and child's nutritional status by Yalçın, S Songül, Serdaroğlu, Esra, İnce, O Tolga

    Published in Turkish journal of pediatrics (01-01-2016)
    “…Childhood obesity is a health hazard increasing worldwide. Preschool period which is under supervision of parents is a critical period to detect overweight and…”
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    A Turkish BCS1L mutation causes GRACILE-like disorder by Serdaroğlu, Esra, Takcı, Şahin, Kotarsky, Heike, Çil, Onur, Utine, Eda, Yiğit, Şule, Fellman, Vineta

    Published in Turkish journal of pediatrics (2017)
    “…A full-term growth-restricted female newborn (1790 g), presented with lactic acidosis (12.5 mmol/L) after birth. She had renal tubulopathy, cholestasis and…”
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    Childhood hereditary ataxias: experience from a tertiary referral university hospital in Turkey by Arslan, Elif Acar, Göçmen, Rahşan, Oğuz, Kader Karlı, Konuşkan, Gökçen Düzgün, Serdaroğlu, Esra, Topaloğlu, Haluk, Topçu, Meral

    Published in Acta neurologica Belgica (01-12-2017)
    “…Hereditary ataxias are a group of genetic disorders that are progressive and heterogeneous. The purpose of this study was to develop a practical and…”
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    Journal Article