Search Results - "Serdaroǧlu, Piraye"

Clinicopathological and genetic study of early-onset demyelinating neuropathy by Parman, Yeşim, Battaloğlu, Esra, Barış, Ibrahim, Bilir, Birdal, Poyraz, Mürüvvet, Bissar-Tadmouri, Nisrine, Williams, Anna, Ammar, Nadia, Nelis, Eva, Timmerman, Vincent, De Jonghe, Peter, Necefov, Ayaz, Deymeer, Feza, Serdaroğlu, Piraye, Brophy, Peter J., Said, G.

“…Autosomal recessive demyelinating Charcot–Marie–Tooth disease (CMT4), Dejerine–Sottas disease and congenital hypomyelinating neuropathy are variants of…”
Get full text

Cytokines and chemokines in neuro-Behçet's disease compared to multiple sclerosis and other neurological diseases by Saruhan-Direskeneli, Güher, Yentür, Sibel P, Akman-Demir, Gülşen, Işık, Nihal, Serdaroğlu, Piraye

“…Cytokines and chemokines in cerebrospinal fluid (CSF) can have implications on the pathogenesis of neuro-Behçet's disease (NB). CSF and serum samples from 33…”
Get full text

Epileptic Seizures in Behçet Disease by Aykutlu, Ebru, Baykan, Betül, Serdaroǧlu, Piraye, Gökyiǧit, Aysen, Akman‐Demir, Gülsen

“…Purpose: To outline the clinical characteristics of seizures in our large series of Behçet disease (BD) patients with neurologic involvement. Methods: All…”
Get full text

Muscle magnetic resonance imaging in spinal muscular atrophy type 3: Selective and progressive involvement by Durmus, Hacer, Yilmaz, Ravza, Gulsen‐Parman, Yesim, Oflazer‐Serdaroglu, Piraye, Cuttini, Marina, Dursun, Memduh, Deymeer, Feza

“…ABSTRACT Introduction In this study we sought to identify magnetic resonance imaging (MRI) signs of selective muscle involvement and disease progression in…”
Get full text

Incidental raised transaminases: a clue to muscle disease by Urganci, Nafiye, Arapoğlu, Müjde, Serdaroğlu, Piraye, Nuhoğlu, Asiye

“…Twenty-one patients with incidental hypertransaminasaemia who were eventually diagnosed as muscular dystrophy are described. There were two females and 19…”
Get full text

Antinuclear, Cytoskeletal, Antineuronal Antibodies in the Serum Samples of Children with Tic Disorders and Obsessive Compulsive Disorders by Işık Görker, Gülşen Akman Demir, Nuray Gürel Polat, Rukiye Eker Ömeroğlu, Sema İçöz, Piraye Serdaroğlu, Ümran Tüzün

“…streptococcus infections in the development of tic and obsessive compulsive disorders (OCD) is controversial. The autoimmune hypothesis states that during…”
Get full text

Anti-αB-crystallin immunoreactivity in inflammatory nervous system diseases by CELET, Burcu, AKMAN-DEMIR, Gülsen, SERDAROGLU, Piraye, YENTÜR, Sibel P, TASCI, Banu, VAN NOORT, Johannes M, ERAKSOY, Mefkure, SARUHAN-DIRESKENELI, Güher

“…alpha B-Crystallin, a small heat shock protein, is an immunodominant antigen with increased tissue expression in demyelination. To investigate the humoral…”
Get full text

Neuropsychological follow-up of 12 patients with neuro-Behçet disease by OKTEM-TANÖR, O, BAYKAN-KURT, B, GÜRVIT, I. H, AKMAN-DEMIR, G, SERDAROGLU, P

“…We analyzed the data obtained from neuropsychological evaluations of 12 neuro-Behcet Disease (NBD) patients who had been followed up for 35.6+/-23.7 months…”
Get full text

Genotypic and phenotypic presentation of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) in Turkey by Durmuş, Hacer, Matur, Zeliha, Atmaca, Murat Mert, Poda, Mehves, Çakar, Arman, Ulaş, Ümit Hıdır, Oflazer-Serdaroğlu, Piraye, Deymeer, Feza, Parman, Yesim G

“…Highlights • The clinical and genetic features of 17 patients from Turkey with TTR-FAP • Five different mutations (Val30Met, Glu89Gln, Gly53Glu, Glu54Gly,…”
Get full text

Clinical patterns of neurological involvement in Behçet's disease : evaluation of 200 patients by AKMAN-DEMIR, G, SERDAROGLU, P, TASCI, B

“…In order to define the patterns of neurological involvement in Behcet's disease and to assess prognostic factors, 558 files of the neuro-Behcet out-patient…”
Get full text

Behçet's disease and the nervous system by SERDAROGLU, P

“…Behçet's disease is a multisystem inflammatory disorder with unknown aetiology. It is a disease of young adults with a more severe course in males subjects…”
Get full text

Pulmonary functions and sleep-related breathing disorders in lipid storage disease by Bingöl, Züleyha, Tekce, Hacer Durmuş, Sağcan, Gülseren, Serdaroğlu, Piraye, Kıyan, Esen

“…Purpose Pulmonary function abnormalities and sleep-related breathing disorders (SRBD) are frequent in subjects with several neuromuscular diseases but there is…”
Get full text

Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11 : evidence for further locus heterogeneity by CHRISTODOULOU, Kyproula, DEYMEER, Feza, SERDAROGLU, Piraye, ÖZDEMIR, Coskun, PODA, Mehves, GEORGIOU, Domna-Maria, IOANNOU, Panos, TSINGIS, Marios, ZAMBA, Eleni, MIDDLETON, Lefkos T

“…Friedreich's ataxia (FRDA), the most-common form of autosomal recessive ataxia, is inherited in most cases by a large expansion of a GAA triplet repeat in the…”
Get full text

Transthyretin-Related Familial Amyloid Polyneuropathy: In the Light of New Developments by Çakar, Arman, Durmuş Tekçe, Hacer, Deymeer, Feza, Oflazer Serdaroğlu, Piraye, Parman, Yeşim G.

“…Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is caused by gain-of-toxic-function of TTR, which dissociates from its native tetramer form to…”
Get full text

Mutations in Kir2.1 Cause the Developmental and Episodic Electrical Phenotypes of Andersen's Syndrome by Plaster, Nikki M., Tawil, Rabi, Tristani-Firouzi, Martin, Canún, Sonia, Bendahhou, Saı̈d, Tsunoda, Akiko, Donaldson, Matthew R., Iannaccone, Susan T., Brunt, Ewout, Barohn, Richard, Clark, John, Deymeer, Feza, George, Alfred L., Fish, Frank A., Hahn, Angelika, Nitu, Alexandru, Ozdemir, Coskun, Serdaroglu, Piraye, Subramony, S.H., Wolfe, Gil, Fu, Ying-Hui, Ptáček, Louis J.

“…Andersen's syndrome is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. We have mapped an Andersen's locus to chromosome…”
Get full text

Transient weakness and compound muscle action potential decrement in myotonia congenita by Deymeer, Feza, Çakirkaya, Sevinnç, Serdaroğlu, Piraye, Schleithoff, Lothar, Lehmann-Horn, Frank, Rüdel, Reinhardt, Özdemir, Coşkun

“…Twenty‐five Turkish patients with recessive myotonia congenita (RMC), 16 of whom had genetic confirmation, were studied. Nineteen had transient weakness. In…”
Get full text

Myasthenia Gravis after Botulinum Toxin Type A Injection by Durmuş Tekçe, Hacer, Deymeer, Feza, Oflazer Serdaroğlu, Piraye, Parman, Yeşim

“…Botulinum toxin type A (BoNT type A) is a neurotoxin produced by Clostridium botulinum, which causes paralysis by presynaptically binding to the cholinergic…”
Get full text

The dominant chloride channel mutant G200R causing fluctuating myotonia: Clinical findings, electrophysiology, and channel pathology by Wagner, Susanne, Deymeer, Feza, Kürz, Lothar L., Benz, Sandra, Schleithoff, Lothar, Lehmann-Horn, Frank, Serdaroğlu, Piraye, Özdemir, Coskun, Rüdel, Reinhardt

“…Clinical, electrophysiological, and molecular findings are reported for a family with dominant myotonia congenita in which all affected members have…”
Get full text

Nerve conduction studies in Charcot-Marie-Tooth disease in a cohort from Turkey by Deymeer, Feza, Matur, Zeliha, Poyraz, Muruvvet, Battaloglu, Esra, Oflazer-Serdaroglu, Piraye, Parman, Yesim

“…Introduction: In the demyelinating form of Charcot–Marie–Tooth disease, median motor conduction velocity (MCV) was noted to be around 20 m/s in peripheral…”
Get full text

Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: A novel gene related to nuclear envelopathies by Kayman-Kurekci, Gulsum, Talim, Beril, Korkusuz, Petek, Sayar, Nilufer, Sarioglu, Turkan, Oncel, Ibrahim, Sharafi, Parisa, Gundesli, Hulya, Balci-Hayta, Burcu, Purali, Nuhan, Serdaroglu-Oflazer, Piraye, Topaloglu, Haluk, Dincer, Pervin

“…Highlights • We identified TOR1AIP1 as a novel gene responsible for a myopathy with contractures. • Expression of LAP1B is absent in the patient skeletal…”
Get full text