Search Results - "Yalçınkaya, Cengiz"

A Rare Leukoencephalopathy: Succinate Dehydrogenase Deficiency by Ertürk Çetin, Özdem, Zubarioglu, Tanyel, Yalçınkaya, Cengiz

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Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome by Güneş, Nilay, Alkaya, Dilek Uludağ, Demirbilek, Veysi, Yalçınkaya, Cengiz, Tüysüz, Beyhan

“…To describe the clinical presentation and long-term clinical features of a molecularly confirmed cohort with Cohen syndrome. Twelve patients with Cohen…”
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Serum Levels of Neuropeptides in Epileptic Encephalopathy With Spike-and-Wave Activation in Sleep by Atacan Yaşgüçlükal, Miray, Ayça, Senem, Demirbilek, Veysi, Saltık, Sema, Yalçınkaya, Cengiz, Erdoğan Döventaş, Yasemin, Çokar, Özlem

“…Epileptic encephalopathy with spike-and-wave activation in sleep (EE-SWAS) is a syndrome of childhood, characterized by diffuse or generalized spike-wave…”
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Ocrelizumab in pediatric multiple sclerosis by Bibinoğlu Amirov, Ceren, Saltık, Sema, Yalçınkaya, Cengiz, Tütüncü, Melih, Saip, Sabahattin, Siva, Aksel, Uygunoğlu, Uğur

“…Ocrelizumab is a recombinant humanized anti-CD20 monoclonal IgG1, approved by FDA and EMA for adult patients with multiple sclerosis (MS). The data on the…”
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Progression of myoclonus subtypes in subacute sclerosing panencephalitis by Ser, Merve Hazal, Gündüz, Ayşegül, Demirbilek, Veysi, Yalçınkaya, Cengiz, Nalbantoğlu, Mecbure, Coşkun, Tülin, Kızıltan, Meral

“…Diagnostic criteria of subacute sclerosing panencephalitis (SSPE) include myoclonus, a well-recognized clinical feature. Here, we studied the…”
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Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: Expansion of the facial and neuroimaging features by Tüysüz, Beyhan, Bilguvar, Kaya, Koçer, Naci, Yalçınkaya, Cengiz, Çağlayan, Okay, Gül, Ece, Şahin, Sezgin, Çomu, Sinan, Günel, Murat

“…Adaptor protein complex‐4 (AP4) is a component of intracellular transportation of proteins, which is thought to have a unique role in neurons. Recently,…”
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Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration by Bilguvar, Kaya, Tyagi, Navneet K., Ozkara, Cigdem, Tuysuz, Beyhan, Bakircioglu, Mehmet, Choi, Murim, Delil, Sakir, Caglayan, Ahmet O., Baranoski, Jacob F., Erturk, Ozdem, Yalcinkaya, Cengiz, Karacorlu, Murat, Dincer, Alp, Johnson, Michele H., Mane, Shrikant, Chandra, Sreeganga S., Louvi, Angeliki, Boggon, Titus J., Lifton, Richard P., Horwich, Arthur L., Gunel, Murat

“…Ubiquitin C-terminal hydrolase-L1 (UCHL1), a neuron-specific deubiquitinating enzyme, is one of the most abundant proteins in the brain. We describe three…”
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Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study by Depienne, Christel, Dr, Bugiani, Marianna, MD, Dupuits, Céline, MSc, Galanaud, Damien, Prof, Touitou, Valérie, Postma, Nienke, van Berkel, Carola, Polder, Emiel, Tollard, Eleonore, MD, Darios, Frédéric, PhD, Brice, Alexis, Prof, de Die-Smulders, Christine E, Prof, Vles, Johannes S, Prof, Vanderver, Adeline, MD, Uziel, Graziella, MD, Yalcinkaya, Cengiz, Prof, Frints, Suzanna G, MD, Kalscheuer, Vera M, PhD, Klooster, Jan, MSc, Kamermans, Maarten, Prof, Abbink, Truus EM, PhD, Wolf, Nicole I, MD, Sedel, Frédéric, MD, van der Knaap, Marjo S, Prof

“…Summary Background Mutant mouse models suggest that the chloride channel ClC-2 has functions in ion and water homoeostasis, but this has not been confirmed in…”
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Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome by Caglayan, Ahmet Okay, Tuysuz, Beyhan, Gül, Ece, Alkaya, Dilek Uludag, Yalcinkaya, Cengiz, Gleeson, Joseph G, Bilguvar, Kaya, Gunel, Murat

“…Heterozygous mutations in Bicaudal D2 Drosophila homolog 2 (BICD2) gene, encodes a vesicle transport protein involved in dynein-mediated movement along…”
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Obstructive sleep apnea syndrome and autonomic dysfunction in Duchenne muscular dystrophy by Senel, Gulcin Benbir, Arkali, N. Burcu, Kilic, Huseyin, Incesu, Gunduz, Saltik, Sema, Yalcinkaya, Cengiz, Karadeniz, Derya

“…Purpose Cardiac and respiratory involvement constitutes serious complications of Duchenne muscular dystrophy (DMD). We hypothesized that obstructive sleep…”
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Analysis of determinants of treatment change in adult paediatric-onset MS patients by Güleç, Zeynep Ece Kaya, Uygunoğlu, Uğur, Tütüncü, Melih, Saip, Sabahattin, Siva, Aksel, Yalçınkaya, Cengiz

“…•Polyphasic onset rate was higher in the group with treatment change.•Spinal cord involvement was more common in the positive for treatment change…”
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A rare finding in epilepsy with myoclonic absences: focal seizure by Çetin, Özdem Ertürk, Abanoz, Yasin, Kıvrak, Elifnur, Yalçınkaya, Cengiz, Demirbilek, Veysi

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Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey by Zubarioglu, Tanyel, Kiykim, Ertugrul, Yesil, Gozde, Demircioglu, Duhan, Cansever, Mehmet Serif, Yalcinkaya, Cengiz, Aktuglu-Zeybek, Cigdem

“…Cerebrotendinous xanthomatosis (CTX) is a lipid storage disorder caused by defective sterol 27-hydroxylase activity. In spite of subtle clinical signs…”
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Recessive LAMC3 mutations cause malformations of occipital cortical development by Barak, Tanyeri, Kwan, Kenneth Y, Louvi, Angeliki, Demirbilek, Veysi, Saygı, Serap, Tüysüz, Beyhan, Choi, Murim, Boyacı, Hüseyin, Doerschner, Katja, Zhu, Ying, Kaymakçalan, Hande, Yılmaz, Saliha, Bakırcıoğlu, Mehmet, Çağlayan, Ahmet Okay, Öztürk, Ali Kemal, Yasuno, Katsuhito, Brunken, William J, Atalar, Ergin, Yalçınkaya, Cengiz, Dinçer, Alp, Bronen, Richard A, Mane, Shrikant, Özçelik, Tayfun, Lifton, Richard P, Šestan, Nenad, Bilgüvar, Kaya, Günel, Murat

“…Murat Gunel and colleagues report the identification of mutations in the laminin γ3 gene that cause complex bilateral occipital cortical gyration abnormalities…”
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Severe Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM by Tüysüz, Beyhan, Ercan-Sençicek, Adife Gülhan, Özer, Emre, Göç, Nükte, Yalçınkaya, Cengiz, Bilguvar, Kaya

“…The study aimed to show the clinical characteristics and prognosis of the L1 syndrome in patients with L1CAM mutations in the extracellular region. Three…”
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Chromosome 14q11.2‐q21.1 duplication: a rare cause of West syndrome by Çetin, Özdem Ertürk, Yalçınkaya, Cengiz, Karaman, Birsen, Demirbilek, Veysi, Tüysüz, Beyhan

“…ABSTRACT Proximal duplication of chromosome 14q, including the FOXG1 gene located on 14q12, is a rare condition characterised by developmental delay,…”
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Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia by Sass, Jörn Oliver, Gunduz, Aysegul, Araujo Rodrigues Funayama, Carolina, Korkmaz, Baris, Dantas Pinto, Kylvia Giselle, Tuysuz, Beyhan, Yanasse Dos Santos, Letícia, Taskiran, Emine, de Fátima Turcato, Marlene, Lam, Ching-Wan, Reiss, Jochen, Walter, Melanie, Yalcinkaya, Cengiz, Camelo Junior, José Simon

“…Abstract Sulfite oxidase is a mitochondrial enzyme encoded by the SUOX gene and essential for the detoxification of sulfite which results mainly from the…”
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Evaluation of Sleep Structure and Sleep-related Disorders in Pediatric Patients Diagnosed with Duchenne Muscular Dystrophy and Spinal Muscular Atrophy by Arkalı, Nuran Burcu, Benbir Şenel, Gülçin, Kılıç, Hüseyin, İncesu, Gündüz, Saltık, Sema, Yalçınkaya, Cengiz, Karadeniz, Derya

“…Objective: Duchenne muscular dystrophy (DMD) is a hereditary neuromuscular disorder in which respiratory problems arise secondary to the involvement of…”
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The Association between Causes and Electrophysiology in Myoclonus: When and Why electrophysiology? by Kiziltan, Meral E., Gündüz, Aysegül, Ser, M Hazal, Yeni, S Naz, Özkara, Çigdem, Demirbilek, Veysi, Yalçınkaya, Cengiz, Kızıltan, Günes

“…Objective: We aimed to identify the possible causes of myoclonus and related electrophysiological features in a cohort of young patients. Patients and Methods:…”
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Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria by Zübarioğlu, Tanyel, Yalçınkaya, Cengiz, Oruç, Çiğdem, Kıykım, Ertuğrul, Cansever, Mehmet Şerif, Gezdirici, Alper, Yeşil, Gözde, Enver, Ece Öge, Zeybek, Çiğdem Aktuğlu

“…L-2-hydroxyglutaric aciduria is a slowly progressive neurometabolic disorder caused by an enzymatic deficiency of L-2-hydroxyglutarate dehydrogenase. Here, we…”
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