Search Results - "Hiz, Ayse Semra"

Optic neuritis in CD59 deficiency: an extremely rare presentation by Günay, Çağatay, Yardım, Elvan, Yaşar, Elif, Hız-Kurul, Ayse Semra, Uzan, Gamze Sarıkaya, Öztürk, Taylan, Yaman, Aylin, Yiş, Uluç

“…Background. CD59 is the principal cell inhibitor of complement membrane attack on cells. Stroke, peripheral neuropathy, and recurrent central nervous system…”
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Importance of acrocyanosis in delayed walking by Yiş, Uluç, Polat, İpek, Karakaya, Pakize, Ayanoğlu, Müge, Hiz, Ayşe Semra

“…We present a four-year-old wth ethylmalonic encephalopathy who presented with delayed walking. She had bilateral hyperintense lesions in the basal ganglia…”
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An Unusual Presentation of Leber Hereditary Optic Neuropathy-Plus Case Caused by a Novel DNAJC30 Variant by Şenol, Hüseyin Bahadır, Soydemir, Didem, Polat, Ayşe İpek, Aydın, Adem, Hız, Ayşe Semra, Yiş, Uluç

“…Leber hereditary optic neuropathy (LHON) is characterized by vision loss due to the degeneration of retinal ganglion cells. LHON-Plus refers to LHON with…”
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Recurrent painful ophthalmoplegic neuropathy: a report of two new pediatric cases by Günay, Çağatay, Edem, Pınar, Hız-Kurul, Ayşe Semra, Yaşar, Elif, Yiş, Uluç

“…Background. Recurrent painful ophthalmologic neuropathy (RPON), formerly known as ophthalmoplegic migraine, is characterized by repeated attacks of one or more…”
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Safety and efficacy of teriflunomide in paediatric multiple sclerosis (TERIKIDS): a multicentre, double-blind, phase 3, randomised, placebo-controlled trial by Chitnis, Tanuja, Banwell, Brenda, Kappos, Ludwig, Arnold, Douglas L, Gücüyener, Kivilcim, Deiva, Kumaran, Skripchenko, Natalia, Cui, Li-Ying, Saubadu, Stephane, Hu, Wenruo, Benamor, Myriam, Le-Halpere, Annaig, Truffinet, Philippe, Tardieu, Marc, Dubois, Benedicte, Verhelst, Helene, Bojinova-Tchamova, Veneta, Mah, Jean, Cui, Li-Ying, Fang, Fang, Hao, Yunpeng, Jiang, Li, Li, Ling, Mao, Ding'An, Qiu, Wei, Tan, Guojun, Wu, Ye, Zhang, Meini, Zhou, Hongyu, Zhou, Shuizhen, Gross-Paju, Katrin, Cheuret, Emmanuel, Deiva, Kumaran, Edan, Giles, Vukusic, Sandra, Chrousos, George, Zafeiriou, Dimitrios, Achiron, Anat, Vaknin-Dembinsky, Adi, Yamout, Bassem, Laurynaitiene, Jurate, Vaiciene-Magistris, Nerija, Bojkovski, Vladimir, Trajkova, Vesna, Chaouki, Sana, Kissani, Najib, Neuteboom, Rinze, Palavra, Filipe, Belova, Anna, Boyko, Alexey, Evdoshenko, Evgeny, Kairbekova, Ekaterina, Malkova, Nadezhda, Shumilina, Maria, Skripchenko, Natalya, Nikolic, Dimitrije, Meca-Lallana, Jose, Triki, Chahnez Charfi, Chokri, Mhiri, Gouider, Riadh, Anlar, Banu, Gücüyener, Kivilcim, Hiz, Ayse Semra, Idiman, Egemen, Turkoglu, Recai, Yapici, Zuhal, Yilmaz, Unsal, Tantsura, Lyudmyla, Voloshyna, Nataliia, Lim, Ming, Wassmer, Evangeline, Cascione, Mark, Chitnis, Tanuja, LaGanke, Christopher, Rathke, Kevin, Scagnelli, John

“…Therapeutic options for children with multiple sclerosis are scarce. Teriflunomide is approved in more than 80 countries for the treatment of adults with…”
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Cerebellar volume in early-onset schizophrenia and its association with severity of symptoms by Özbek, Aylin, Göçmen Mas, Nüket, Turan, Serkan, Ay, Bari, Serim Demirgören, Burcu, Nilüfer Yonguç, Gökşin, Karabekir, Selim, İpek Polat, Ayşe, Semra Hız, Ayşe, Gencer Kıdak, Özlem

“…Objectives This study aimed to investigate whether early-onset schizophrenia (EOS) cases differ from controls regarding volumes of the total cerebellum and the…”
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Epilepsy and Electroencephalographic Abnormalities in Children with Autistic Spectrum Disorder by İpek Polat, Ayşe Semra Hız, Uluç Yiş, Müge Ayanoğlu, Derya Okur, Erhan Bayram, Hüseyin Burak Baykara

“…Objective: Epilepsy and electroencephalography (EEG) abnormalities are more commonly seen in autism spectrum disorder (ASD). The aim of the present study is…”
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Identification of PCDH19 gene mutations/deletions in patients with early onset epilepsy by Gursoy, Semra, Ataman, Esra, Baysal, Bahar, Özyılmaz, Berk, Gençpınar, Pınar, Hız, Ayşe, Yiş, Uluç, Ünalp, Aycan, Dündar, Nihal, Ülgenalp, Ayfer, Erçal, Derya

“…Background and Aims:PCDH19 gene, which encodes protocadherin 19, is associated with epilepsy and intellectual disability, mainly in affected females. The…”
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Cerebellar volumes in early-onset bipolar disorder: a pilot study of a stereological measurement technique by Demirgören, Burcu Serim, Özbek, Aylin, Göçmen Karabekir, Nüket, Ay, Bari, Turan, Serkan, Yonguç, Gökşin Nilüfer, Karabekir, Selim, Polat, Ayşe İpek, Hız, Ayşe Semra, Gencer Kıdak, Özlem

“…Recent data from the literature have recognized the importance of cerebellum in bipolar disorder. Brain imaging studies focusing on cerebellar volumetric…”
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A case of rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation, and neural crest tumor: ROHHADNET syndrome by Abaci, Ayhan, Catli, Gonul, Bayram, Erhan, Koroglu, Tolga, Olgun, Hatice Nur, Mutafoglu, Kamer, Hiz, Ayse Semra, Cakmakci, Handan, Bober, Ece

“…Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) is a rare disorder that mimics both common obesity and…”
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Evaluation of Autonomic Dysfunction in Pediatric Migraine Patients by Duygu Aykol, Nurhak Demir, Ayşe İpek Polat, İbrahim Öztura, Uluç Yiş, Ayşe Semra Hız

“…Objective: Headache during childhood is a common condition. Although recent studies have shown that the autonomic nervous system (ANS) in adult migraine…”
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Measurement of the apparent diffusion coefficient in paediatric mitochondrial encephalopathy cases and a comparison of parenchymal changes associated with the disease using follow-up diffusion coefficient measurements by Uysal, Fatma, Çakmakçı, Handan, Yiş, Uluç, Ellidokuz, Hülya, Hız, Ayşe Semra

“…Highlights • DWI complements conventional MRI in diagnosing mitochondrial encephalopathy (ME) in paediatric patients. • DWI can determine lesion degeneration…”
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Clinical predictors of drug-resistant epilepsy in children by KARAOĞLU, Pakize, YİŞ, Uluç, POLAT, Ayşe İpek, AYANOĞLU, Müge, HIZ, Semra

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Evaluation of the Genetically Diagnosed Mitochondrial Disease Cases with Neuromuscular Involvement by Çağatay Günay, Cem Paketçi, Pınar Edem, Gamze Sarıkaya Uzan, Ayşe Semra Hız Kurul, Zümrüt Arslan Gülten, Pelin Teke Kısa, Nur Arslan, Uluç Yıs

“…Objective: Due to the fact that mitochondrial diseases can involve different organ systems, neuromuscular involvement is frequently observed and has a…”
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Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia by Polat, Ayşe İpek, Yiş, Uluç, Ayanoğlu, Müge, Hız, Ayşe Semra, Güleryüz, Handan, Öztürk Atasoy, Tülay, Boerkoel, Cornelius F

“…Schimke immuno-osseous dysplasia is an autosomal recessive multisystem disorder caused by defects in SWI/SNF-related, matrix-associated, actin-dependent…”
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VARS1 mutations associated with neurodevelopmental disorder are located on a short amino acid stretch of the anticodon-binding domain by Hiz, Semra, Kiliç, Seval, Bademci, Güney, Karakulak, Tülay, Erdoğan, Aybike, Özden, Burcu, Eresen, Çiğdem, Erdal, Esra, Yiş, Uluç, Tekin, Mustafa, Karakülah, Gökhan, Karaca, Ezgi, Öztürk, Mehmet

“…Majority of 37 human aminoacyl tRNA synthetases have been incriminated in diverse, mostly recessive, genetic diseases. In accordance with this, we uncovered a…”
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Recurrent painful ophthalmoplegic neuropathy: a report of two new pediatric cases by Günay, Çaǧatay, Edem, Pınar, Kurul, Ayşe Semra Hız, Yaşar, Elif, Yiş, Uluç

“…Brain magnetic resonance imaging (MRI) revealed a 5.5 mm nodular enhancement in the cisternal part of the 3rd cranial nerve in the right premesencephalic area…”
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Could polyneutritis cranialis-related SARS-CoV-2 be a precursor of multi-systemic involvement? by Gök, Ayşen, Ülker Üstebay, Döndü, İnce, Dilek, Hız, Ayşe Semra, Yiş, Uluç

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Çocuk yoğun bakım ünitesinde izlenen olguların elektroensefalografi sonuçlarının geriye dönük olarak değerlendirilmesi by AYANOĞLU, Müge, YİŞ, Uluç, KALAFATÇILAR, İpek, KÖKER, Alper, ARSLAN, Gazi, HIZ, Semra

“…Amaç Çocuk Yoğun Bakım ünitesinde izlenen ve elektroensefalogram (EEG) çekilen olguların, çekim nedenlerinin ve EEG sonuçlarının değerlendirilmesi Gereç ve…”
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Febril konvülziyon etyopatogenezinde genetiğin rolü by Özlem,Enise Nur, Hız,Ayşe Semra

“…Febril konvülziyon çocuklukta en sık görülen kovülziyon tipidir ve altı ay ile beş yaş arasında %2-5 sıklıktadır. Basit ve kompleks olarak sınıflandırılır…”
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