Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Aslı Gündoğdu Eken"'
Autor:
Mefkure Eraksoy, Onder Us, Sibel Ertan, Hacer Durmus, Filiz Koç, Nazan Saner, Şeyma Tekgül, Pinar Tekturk, Cemile Kocoglu, Gençer Genç, Robin Palvadeau, Feza Deymeer, Güneş Kızıltan, Ece Kartal, Hulya Apaydin, Sevda Erer Özbek, Cenk Akbostanci, Suna Lahut, Yesim Parman, Erdi Şahin, Dilcan Kotan, Hülya Tireli, Murat Gultekin, Zeynep Özözen Ayas, Ersin Tan, Sibel Özekmekçi, Irmak Şahbaz, Hamit Acer, Zeynep Tufekcioglu, Dilek Ince Gunal, Hasmet Hanagasi, İhsan Şükrü Şengün, Arman Çakar, Esen Saka Topcuoglu, Gülşah Şimşir, Gülden Akdal, Elif Bayraktar, Fulya Akçimen, Ayşe Bora Tokçaer, Aysegul Gunduz, Uluç Yiş, Gul Serdaroglu, Atay Vural, Ayse Altintas, Hüseyin A. Şahin, Özgür Ömür, Tuğçe Gül, Gül Demet Kaya Özçora, Müge Kovancılar Koç, Vildan Yayla, Aksel Siva, Semra Hiz, Meral Topçu, Piraye Oflazer, Başar Bilgiç, M. Osman Çorbalı, Semiha Kurt, Elçin Bora, Nesli E. Şen, Kadriye Agan, A. Nazli Basak, Halil Güllüoğlu, Ceren Tunca, Sefer Kumandaş, Muhsin Elmas, Özgür Öztop Çakmak, Bulent Elibol, Aysun Soysal, Zeynep E. Kaya Gulec, Caroline Pirkevi Çetinkaya, Dürdane Aksoy, Aslı Gündoğdu Eken
Background The genetic and epidemiological features of hereditary ataxias have been reported in several populations; however, Turkey is still unexplored. Due to high consanguinity, recessive ataxias are more common in Turkey than in Western European
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bd268a54a7c084aa9507fb520b75a7d
https://avesis.gazi.edu.tr/publication/details/dc537293-2ef2-4fdc-932d-c75876075839/oai
https://avesis.gazi.edu.tr/publication/details/dc537293-2ef2-4fdc-932d-c75876075839/oai
Autor:
Işın Sinem Bağcı, Atay Vural, Thomas Ruzicka, Fulya Akçimen, A. Nazli Basak, Aslı Gündoğdu Eken, Ceren Tunca, Seçil Vural
Publikováno v:
International Journal of Dermatology. 57:843-848
IntroductionSjogren-Larsson syndrome (SLS) is a rare congenital disorder characterized by the triad of ichthyosis, spasticity, and mental retardation. Patients are usually referred to dermatology clinics during infancy. As paraplegia becomes the most
Autor:
Can Ebru Bekircan-Kurt, Betül Çevik, Cemile Kocoglu, Cemre Coşkun, Fulya Akçimen, A. Nazli Basak, Ersin Tan, Ceren Tunca, Aslı Gündoğdu-Eken
Publikováno v:
European Journal of Human Genetics. 26:745-748
WOS:000431829000017 PubMed: 29453415 Amyotrophic lateral sclerosis (ALS) is a late-onset motor neuron disease with mostly dominant inheritance and a life expectancy of 2-5 years; however, a quite common occurrence of atypical forms of the disease, du
FBXO7–R498X mutation: Phenotypic variability from chorea to early onset parkinsonism within a family
Autor:
Aslı Gündoğdu Eken, Başar Bilgiç, Hasmet Hanagasi, Murat Gunel, Aysegul Gunduz, Sibel Ertan, Kaya Bilguvar, A. Nazli Basak
Publikováno v:
Parkinsonism & Related Disorders. 20:1253-1256
FBXO7 mutations (PARK 15), first reported in 2008, are among the monogenic causes of early-onset parkinsonism. Classically, PARK 15 was suggested to correspond to previously described pallido-pyramidal syndrome. Here, we report clinical and genetic f
Autor:
Costin Leu, Janine Altmüller, Melek Aslı Kayserili, Aslı Gündoğdu Eken, Holger Thiele, S. Hande Çağlayan, Thomas Sander, Uluç Yiş, Sunay Usluer, Peter Nürnberg
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 21(5)
Benign Familial Infantile Epilepsy (BFIE) is clinically characterized by clusters of brief partial seizures progressing to secondarily generalized seizures with onset at the age of 3-7 months and with favorable outcome. PRRT2 mutations are the most c
Autor:
Dilsad Turkdogan, Bülent Kara, Aslı Gündoğdu Eken, Seda Salar, Betül Baykan, Uluç Yiş, Mutluay Arslan, Sunay Usluer, Cihan Meral, S. Hande Çağlayan, Nerses Bebek, Özlem Yalçın Çapan, Pinar Tekturk
Publikováno v:
Seizure. 39
Yalçın Çapan, Özlem (Arel Author)
Purpose: The SCN1A gene is one of the most commonly mutated human epilepsy genes associated with a spectrum of phenotypes with variable degrees of severity. Despite over 1200 distinct mutations reported, it
Purpose: The SCN1A gene is one of the most commonly mutated human epilepsy genes associated with a spectrum of phenotypes with variable degrees of severity. Despite over 1200 distinct mutations reported, it
Publikováno v:
Case Reports in Neurological Medicine, Vol 2016 (2016)
Case Reports in Neurological Medicine
Case Reports in Neurological Medicine
WOS:000383466000001 PubMed: 27668106 Here, we describe the clinical features of several members of the same family diagnosed with Friedreich ataxia ( FRDA) and cerebral lesions, demyelinating neuropathy, and late-age onset without a significant cardi
Autor:
Aslihan Ozoguz, Piraye Oflazer, Aslı Gündoğdu Eken, Feza Deymeer, Yesim Parman, Hacer Durmus, Peter C. Sapp, A. Nazli Basak, Halil Güllüoğlu, Filiz Koç, Murat Gunel, Fikret Aysal, Ozlem Keskin, Mehmet Ali Akalin, Başar Bilgiç, Suna Lahut, Tahsin Akgün, Dilcan Kotan, Özgün Uyan, Mustafa Ertas, Nilgün Döşoğlu, John Landers, Pinar Kavak, Mehmet Zarifoglu, Nesli-Ece Sen, Ceren Saygı, Kaya Bilguvar, Hakan Gurvit, Özgür Ömür, Robert H. Brown, Hasmet Hanagasi, Ersin Tan, Güneş Birdal, Zeynep Sena Agim, Hilmi Ozcelik, Pamela Keagle, Ceren Iskender, Ece Kartal
PubMedID: 25681989 The frequency of amyotrophic lateral sclerosis (ALS) mutations has been extensively investigated in several populations; however, a systematic analysis in Turkish cases has not been reported so far. In this study, we screened 477 A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73fbf09c47c098ca022a6efb77fbe36d
https://hdl.handle.net/20.500.12605/20890
https://hdl.handle.net/20.500.12605/20890
Autor:
Huseyin Canaz, Aslı Gündoğdu-Eken, Sabri Aydin, Ayşe Nazlı Başak, Selin Yagci, Gençer Genç, Çağrı Poyraz, Aysegul Gunduz, Sibel Ertan, Hulya Apaydin, Semra Oguz
Publikováno v:
Parkinsonism & Related Disorders. 24:137-138
Autor:
Dürdane Aksoy, A. Nazli Basak, Aslı Gündoğdu Eken, Semiha Kurt, Ece Kartal, Betül Çevik, Irmak Şahbaz
Publikováno v:
Journal of the Neurological Sciences. 357:290-291