Search Results - "HERGÜNER, Özlem"

Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience by Bilge, Serap, Mert, Gülen Gül, Hergüner, Özlem, Özcanyüz, Duygu, Bozdoğan, Sevcan Tuğ, Kaya, Ömer, Havalı, Cengiz

“…Pontocerebellar hypoplasia (PCH) constitutes a heterogeneous neurodegenerative/neurodevelopmental disorder of the pons and cerebellum with onset in the…”
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Glycogen storage disease type XII; an ultra rare cause of hemolytic anemia and rhabdomyolysis: one new case report by Kara, Esra, Kor, Deniz, Bulut, Fatma Derya, Hergüner, Özlem, Ceylaner, Serdar, Köşeci, Burcu, Burgaç, Ezgi, Mungan, Neslihan Önenli

“…Aldolase A deficiency also known as glycogen storage disease (GSD) XII, is an ultra rare autosomal recessively inherited GSD, associated with hemolytic anemia…”
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Congenital myasthenic syndrome in Turkey: clinical and genetic features in the long-term follow-up of patients by Gül Mert, Gülen, Özcan, Neslihan, Hergüner, Özlem, Altunbaşak, Şakir, Incecik, Faruk, Bişgin, Atıl, Ceylaner, Serdar

“…Congenital Myasthenic Syndromes (CMS) are rare disorders that occur as a result of defects in the structure and in the function of neuromuscular junctions…”
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Factors affecting epilepsy prognosis in patients with tuberous sclerosis by Gül Mert, Gülen, Altunbaşak, Şakir, Hergüner, Özlem, İncecik, Faruk, Övetti, Hilal Cansever, Özcan, Neslihan, Kuşçu, Duygu, Ünal, İlker

“…Purpose We aimed to determine the characteristics of epileptic seizures that significantly affect the cognitive functions of 83 patients followed with tuberous…”
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Neurofibromatosis type 1 and cardiac manifestations by Incecik, Faruk

“…Cardiac manifestations of neurofibromatosis type 1 (NF1) may include hypertension, congenital heart disease, and hypertrophic cardiomyopathy. The aim of this…”
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Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey by Bulut, Fatma Derya, Kör, Deniz, Şeker-Yılmaz, Berna, Hergüner, Özlem, Ceylaner, Serdar, Özkınay, Ferda, Kılavuz, Sebile, Önenli-Mungan, Neslihan

“…Gaucher disease is the most common lysosomal storage disorder due to glucosylceramidase enzyme deficiency. There are three subtypes of the disease…”
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Pseudotumor Cerebri in a Child With Familial Mediterranean Fever by Incecik, Faruk, Herguner, Ozlem M, Yilmaz, Mustafa, Altunbasak, Sakir

“…Familial Mediterranean fever is an autosomal recessive polysystemic disease characterized by attacks of relapsing and self-limiting fever, peritonitis,…”
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Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin by Horoz, Ozden O, Mungan, Neslihan O, Yildizdas, Dincer, Hergüner, Özlem, Ceylaner, Serdar, Kör, Deniz, Waterham, Hans, Coskun, Turgay

“…Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare and severe neurometabolic disease. We present two siblings with BVVLS with a novel homozygous mutation in…”
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Methylphenidate treatment outcomes and gender differences in attentional deficit and hyperactivity disorder with epilepsy: a follow-up study by Ray, Perihan, Çelik, Gonca, Tahiroğlu, Ayşegül, Gamlı, İpek, Hergüner, Özlem

“…[...]in the general group, all the differences between epileptic and non-epileptic males and ST-1/2, ST-1/3, SEC-1/2 and SEC-1/3 measurements in nonepileptic…”
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A Presentation of Lyme Disease: Pseudotumor Cerebri by Şahin, Burcu, İncecik, Faruk, Hergüner, Özlem M, Alabaz, Derya, Beşen, Şeyda

“…Lyme disease is caused by a tick-transmitted spirochete, B. burgdorferi. It can present with both central and peripheral nervous system manifestations,…”
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Prognosis of Patients With Seizures Occurring in the First 2 Years by Altunbaşak, Şakir, Incecik, Faruk, Hergüner, Özlem, Refik Burgut, H.

“…The aim of this study is to determine the prognosis of patients with seizure onset from 1 to 24 months of age in respect to epilepsy, developmental outcome,…”
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Epilepsy and McArdle Disease in a Child by İncecik, Faruk, Hergüner, Özlem, Mert, Gülen, Besen, Şeyda, Kor, Deniz, Yılmaz, Berna, Mungan, Neslihan Önenli, Altunbaşak, Şakir

“…McArdle hastalığı, çizgili kasta glikojen fosforilaz enziminin eksikliği sonucu gelişen, otozomal resesif kalitim gösteren bir hastalık olarak…”
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Albendazole-induced dystonic reaction: a case report by Incecik, Faruk, Hergüner, Mihriban Ozlem, Ozcan, Kenan, Altunbaşak, Sakir

“…Drug-induced dystonic reactions are a common presentation to the emergency department and typically occur with drugs like chlorpromazine, haloperidol and…”
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Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family by Incecik, Faruk, Hergüner, Mihriban Ozlem, Altunbaşak, Sakir, Lehman-Horn, Frank

“…Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disorder characterized by episodic attacks of muscle weakness associated with a decrease in…”
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Autosomal-recessive spastic ataxia of Charlevoix-Saguenay: A Turkish child by Incecik, Faruk, Hergüner, Ozlem, Bisgin, Atil

“…Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations of the SACS gene, characterized by late-infantile-onset spastic…”
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Çocuklarda psödotümör serebri: etyoloji, klinik bulgular, prognoz by Gülen GÜL MERT, Neslihan ÖZCAN, Şeyda BEŞEN, Kemal YAR, Özlem HERGÜNER, Faruk İNCECİK, Şakir ALTUNBAŞAK

“…Amaç: Psödotümör serebri tanısı alan hastaların klinik ve nörogörüntüleme bulguları, etiyolojileri, tedavi şekilleri ve süreleri, tedaviye yanıtları ve…”
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Pseudotumor cerebri in children: Etiology, clinical findings, prognosis by Mert,Gülen Gül, Özcan,Neslihan, Beşen,Şeyda, Yar,Kemal, Hergüner,Mihriban Özlem, İncecik,Faruk, Altunbaşak,Şakir

“…Purpose: Clinical and neuroimaging findings, aetiologies, treatment modalities and durations, response to treatment, and neurological sequelae of the patients…”
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Limbic encephalitis associated with anti-leucine-rich glioma-inactivated-1 protein antibodies in a child by Incecik, Faruk, Hergüner, Ozlem, Besen, Seyda, Yılmaz, Mustafa, Altunbasak, Sakir

“…A serological panel for autoimmune disorders including antinuclear antibodies, double-stranded DNA antibody, rheumatoid factor, and complement levels was…”
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Dynamic thiol/disulphide homeostasis in children with Duchenne muscular dystrophy by Incecik, Faruk, Avcıoğlu, Gamze, Erel, Özcan, Neşelioğlu, Salim, Hergüner, Ozlem M.

“…Duchenne muscular dystrophy (DMD) is a disorder that alter the expression of the dystrophin protein. Dystrophin deficiency alters the structural integrity of…”
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Akut Karın ile Gelen Guillain-Barre Sendromu by İncecik, Faruk, Horoz, Özden Özgür, Hergüner, M. Özlem, Yıldızdaş, Dinçer

“…Guillain-Barre Sendromu (GBS), çocukluk çağındaki akut flask paralizinin en sık nedenidir. Simetrik güçsüzlük, baş ağrısı, solunum sıkıntısı, nöropatik ağrı,…”
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