Person: MATUR, ZELİHA
32 results
Search Results
Now showing 1 - 10 of 32
Publication Metadata only Somatosensory Evoked Potentials In Patients With Juvenile Myoclonic Epilepsy(2016-01-01T00:00:00Z) Ozemir, Zeynep Aydin; Matur, ZELİHA; BAYKAL, Betül; ÖGE, Ali Emre; MATUR, ZELİHAWhile a small number of studies dealing with somatosensory evoked potential (SEP) have demonstrated hyperexcitability in the primary somatosensory cortex of juve-nile myoclonic epilepsy (JME) patients, the underlying mechanisms have yet to be illuminated. Determination of higher cortical SEP responses in some JME patients and recordings of very high amplitude responses, called -giant SEP,- in a specific subgroup may indicate a clinical and possibly genetic heterogeneity within JME patients. In the present review, the findings of previous studies concerned with SEP in JME patients are summarized, and their importance regarding JME etiopathogenesis and related clinical findings is discussed.Publication Metadata only Clinical Features of the -Optineurin- Mutation in familial FTD and ALS(2012-01-01T00:00:00Z) Cikrikcili, Ugur; Durmus, Hacer; Basak, Nazli; Gunel, Murat; GÜRVİT, İbrahim Hakan; Matur, ZELİHA; Akca Kalem, Sukriy; Serdaroglu-Oflazer, Piraye; Deymeer, Feza; Parman, Yesim; MATUR, ZELİHAPublication Metadata only Clinical, Electrophysiological, and Serological Evaluation of Patients with Cramp-Fasciculation Syndrome(2017-06-01T00:00:00Z) Poyraz, Muruvvet; Matur, ZELİHA; Aysal, Fikret; TÜZÜN, Erdem; Hanoglu, Lutfu; ÖGE, Ali Emre; MATUR, ZELİHAIntroduction: Cramp-fasciculation syndrome (CFS) is a rare peripheral nerve hyperexcitability syndrome. There are only a few reports on clinical and serological profile of a CFS cohort that was followed up by a single outpatient clinic.Publication Metadata only Effects of amantadine on postural instability in Parkinson-s disease(2014-05-01T00:00:00Z) Topcular, B.; Altinkaya, A.; Yabalak, A.; Kaymaz, A.; Altunrende, B.; Matur, ZELİHA; Gungor, O.; Altindag, E.; Demir, G. Akman; MATUR, ZELİHAPublication Metadata only Increased photosensitivity following short sleep in sleep deprived patients(2017-06-01T00:00:00Z) Elmali, Ayse Deniz; Kurucu, Hatice; Cetin, Ozdem Erturk; Cokar, Ozlem; Matur, ZELİHA; Dervent, Aysin; BENBİR ŞENEL, GÜLÇİN; Gurses, Candan; Demirbilek, Veysi; MATUR, ZELİHAIntroduction. We aimed to determine the effect of short day-time sleep on photoparoxysmal epileptic activity in sleep-deprived patients.Publication Metadata only Assosciation of autoimmune encephalitis with immune checkpoint inhibitor(2017-10-01T00:00:00Z) Altunrende, B.; Nalbantoglu, M.; Tuncer, O. Gungor; Matur, ZELİHA; Topcular, B.; Demir, G. Akman; MATUR, ZELİHAPublication Metadata only Genotypic and phenotypic presentation of TTR-FAP in Turkey(2014-05-01T00:00:00Z) DURMUŞ TEKÇE, Hacer; Matur, ZELİHA; Atmaca, M. M.; PODA, Mehveş; Oflazer-Serdaroglu, P.; Deymeer, F.; Parman, Y.; MATUR, ZELİHAPublication Metadata only Electromyography in Pediatric Population(2018-03-01T00:00:00Z) KOCASOY ORHAN, Elif; Baysal Kirac, Leyla; YALİNAY DİKMEN, PİNAR; Matur, ZELİHA; Ertas, Mustafa; ÖGE, Ali Emre; Deymeer, Feza; Yazici, Jale; BASLO, Mehmet Barış; MATUR, ZELİHAIntroduction: Electrodiagnostic evaluation provides an important extension to the neurological examination for the evaluation of pediatric neuromuscular disease. Many pediatric neuromuscular diseases are analogous to those seen in the adult. However, the relative frequency of these illnesses varies greatly when different age populations are compared. The purpose of the present study is to provide a retrospective analysis of children referred to our electromyography (EMG) laboratory for electrophysiological examinations.Publication Metadata only Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D(2014-05-01T00:00:00Z) Okamoto, Yuji; Goksungur, Meryem Tuba; Pehlivan, Davut; Beck, Christine R.; Gonzaga-Jauregui, Claudia; Muzny, Donna M.; Atik, Mehmed M.; Carvalho, Claudia M. B.; Matur, ZELİHA; BAYRAKTAR, Şerife; Boone, Philip M.; Akyuz, Kaya; Gibbs, Richard A.; Battaloglu, Esra; Parman, Yesim; Lupski, James R.; MATUR, ZELİHAPurpose: Copy-number variations as a mutational mechanism contribute significantly to human disease. Approximately one-half of the patients with Charcot-Marie-Tooth (CMT) disease have a 1.4Mb duplication copy-number variation as the cause of their neuropathy. However, non-CMTIA neuropathy patients rarely have causative copy-number variations, and to date, autosomal-recessive CMT disease has not been associated with copy-number Variation as a mutational mechanism.Publication Metadata only Genotypic and phenotypic presentation of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) in Turkey(2016-07-01T00:00:00Z) Durmus-Tekce, Hacer; Matur, ZELİHA; Atmaca, Murat Mert; PODA, Mehveş; ÇAKAR, Arman; Ulas, Umit Hidir; Oflazer-Serdaroglu, Piraye; Deymeer, Feza; Parman, Yesim G.; MATUR, ZELİHATransthyretin-related familial amyloid polyneuropathy (TTR-FAP) is an autosomal dominant disorder caused by mutations of the transthyretin (TTR) gene. The mutant amyloidogenic transthyretin protein causes the systemic accumulation of amyloid fibrils that result in organ dysfunction. TTR-associated FAP is a progressive and fatal disease, if left untreated, and should be considered in the differential diagnosis of any person presenting with a progressive polyneuropathy, particularly with accompanying autonomic involvement. The clinical, electrophysiological, histopathological, and genetic characteristics of 17 patients from Turkey (5 female, 13 male) from nine families with polyneuropathy and mutations in TTR were evaluated. Sequence analysis of the TTR gene revealed five mutations (Va130Met, Glu89Gln, Gly53Glu, Glu54Gly and Gly47Glu). Mean age at disease onset was 40.4 +/- 13.9 years (range 21-66 years). The most commonly reported initial complaint was paresthesia in the feet (asymmetric in three patients). Three patients (2 male) with the Glu89Gln mutation presented with carpal tunnel syndrome. Two patients with the Gly53Glu mutation showed episodes of dysarthria and hemiparesis, consistent with this genotype. Seven patients died during the period of follow-up as a result of systemic involvement. Our study suggests that a cohort of patients from Turkey with TTR-FAP exhibits clinical and genetic heterogeneity. (C) 2016 Elsevier B.V. All rights reserved.