Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Semra HIZ KURUL"'
Autor:
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E. Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M. Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V. Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T. Pagnamenta, Ajia Pennavaria, Liv S. Krogstad, Åse K. Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M. Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean-François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad Alajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmuller, Sahar I. Da’as, Khalid A. Fakhro, Alicia Gómez-Pascual, Juan A. Botía, Nicholas W. Wood, Rita Horvath, Andreas M. Ernst, James E. Rothman, Meriel McEntagart, Yanick J. Crow, Fowzan S. Alkuraya, Gaël Nicolas, SYNaPS Study Group, Thomas Arnesen, Henry Houlden
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Abstract Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC is a heterogeneous disorder currently linked to varian
Externí odkaz:
https://doaj.org/article/1b66ac89bf354c83adcf4b0c6dc91661
Publikováno v:
Forbes Tıp Dergisi, Vol 4, Iss 1, Pp 21-27 (2023)
Objective: This study aims to contribute to our understanding of unknown aspects of this syndrome by evaluating the characteristics of patients with rolandic epilepsy (RE), who applied to our hospital. Methods: The cases diagnosed with 'self-limited
Externí odkaz:
https://doaj.org/article/49471c718af7446ca2efd6393ce3fc51
Publikováno v:
Annals of Indian Academy of Neurology, Vol 17, Iss 4, Pp 437-440 (2014)
Metabolic myopathies due to disorders of lipid metabolism are a heterogeneous group of diseases. Newborns may present with hypotonia and convulsions, while progressive proximal muscle weakness or recurrent episodes of muscle weakness accompanied by r
Externí odkaz:
https://doaj.org/article/d289a6f132c1470fa2dca2f7bbc3384a
Publikováno v:
Annals of Indian Academy of Neurology, Vol 16, Iss 4, Pp 716-719 (2013)
Shapiro syndrome is an extremely rare condition consisting the clinical triad of recurrent hypothermia, hyperhydrosis and agenesis of the corpus callosum. On the other hand, reverse Shapiro′s sydrome is characterized periodic hyperthermia and agene
Externí odkaz:
https://doaj.org/article/16c5916f54304100bf72ab29fd43e221
Autor:
Özlem Özsoy, Tayfun Cinleti, Çağatay Günay, Gamze Sarıkaya Uzan, Mehmet Can Yeşilmen, Hanns Lochmüller, Rita Horvath, Uluç Yiş, Yavuz Oktay, Semra Hiz Kurul
Introduction: Congenital glycosylation disorders are multisystem diseases with heterogeneous clinical manifestations caused by defects in the synthesis of the glycan moiety of glycoproteins or glycolipids or the binding of glycans to proteins and lip
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed2fa7dc26d1e4f7eea66ac7978ccebc
https://avesis.deu.edu.tr/publication/details/4992537d-76f8-490b-ab3d-b08a9257aec9/oai
https://avesis.deu.edu.tr/publication/details/4992537d-76f8-490b-ab3d-b08a9257aec9/oai
Autor:
Çağatay Günay, Duygu Aykol, Özlem Özsoy, Ece Sönmezler, Yaren Sena Hanci, Bülent Kara, Deniz Akkoyunlu Sünnetçi, Naci Cine, Adnan Deniz, Tolgahan Özer, Cemile Büşra Ölçülü, Özlem Yilmaz, Seda Kanmaz, Sanem Yilmaz, Hasan Tekgül, Nihal Yildiz, Elif Acar Arslan, Ali Cansu, Nihal Olgaç Dündar, Fatma Kusgoz, Elif Didinmez, Pınar Gençpinar, Tuğçe Aksu Uzunhan, Biray Ertürk, Alper Gezdirici, Akif Ayaz, Akgün Ölmez, Müge Ayanoğlu, Ayşe Tosun, Yasemin Topçu, Betül Kiliç, Kürşad Aydin, Ezgi Çağlar, Özlem Ersoy Kosvali, Çetin Okuyaz, Şeyda Besen, Leman Tekin Orgun, İlknur Erol, Deniz Yüksel, Abdullah Sezer, Ergin Atasoy, Ülkühan Toprak, Serdal Güngör, Bilge Ozgor, Meral Karadağ, Cengiz Dilber, Bahtiyar Şahinoğlu, Emek Uyur Yalçin, Nilüfer Eldes Hacifazlioglu, Ahmet Yaramiş, Pınar Edem, Hande Gezici Tekin, Ünsal Yilmaz, Aycan Ünalp, Sevim Turay, Didem Biçer, Gülen Gül Mert, İpek Dokurel Çetin, Serkan Kirik, Gülten Öztürk, Yasemin Karal, Aslıhan Sanri, Ayşe Aksoy, Muzaffer Polat, Nezir Özgün, Didem Soydemir, Gamze Sarikaya Uzan, Döndü Ülker Üstebay, Ayşen Gök, Mehmet Can Yeşilmen, Uluç Yiş, Gökhan Karakülah, Ahmet Bursali, Yavuz Oktay, Semra Hiz Kurul
Publikováno v:
Neuropediatrics.
Background Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to
Autor:
Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Yvette van Ierland, Ehsan G Karimiani, Anna Elina Lehesjoki, Mikko Muona, Anders Paetau, Yuri Miyazaki, Yoko Hirano, Laila Selim, Marina de França, Rodrigo Ambrosio Fock, Christian Beetz, Claudia A L Ruivenkamp, Alison J Eaton, Francois D Morneau-Jacob, Lena Sagi-Dain, Lilach Shemer-Meiri, Amir Peleg, Jumana Haddad-Halloun, Daan J Kamphuis, Cacha M P C D Peeters-Scholte, Semra Hiz Kurul, Rita Horvath, Hanns Lochmüller, David Murphy, Stephan Waldmüller, Stephanie Spranger, David Overberg, Alison M Muir, Aboulfazl Rad, Barbara Vona, Firdous Abdulwahad, Sateesh Maddirevula, Inna S Povolotskaya, Victoria Y Voinova, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Fowzan S Alkuraya, Heather C Mefford, Majid Alfadhel, Tobias B Haack, Pasquale Striano, Mariasavina Severino, Masaki Fukata, Yvonne Hilhorst-Hofstee, Henry Houlden
Publikováno v:
Brain, 145(7), 2301-2312. OXFORD UNIV PRESS
Brain, 145(7), 2301-2312. Oxford University Press
Brain, 145(7), 2301-2312. Oxford University Press
Data de publicació electrònica: 04-04-2022 Pathogenic variants in A Disintegrin And Metalloproteinase (ADAM) 22, the postsynaptic cell membrane receptor for the glycoprotein leucine-rich repeat glioma-inactivated protein 1 (LGI1), have been recentl
Autor:
Mehmet Can Yeşilmen, Çağatay Günay, Gamze Sarıkaya Uzan, Özlem Özsoy, Semra Hız Kurul, Elif Yaşar, Uluç Yiş
Publikováno v:
Journal of Behçet Uz Children's Hospital, Vol 13, Iss 3, Pp 203-206 (2023)
Pseudotumor cerebri syndrome (PTCS) is characterized by the presence of elevated intracranial pressure in the environment of intact brain parenchyma and cerebrospinal fluid (CSF). PTCS can occur in pediatric populations and cause permanent vision los
Externí odkaz:
https://doaj.org/article/68bdbc2f84744e4cb01f8aac429e7a26
Autor:
Semra Hiz Kurul
Publikováno v:
Turkiye Klinikleri Journal of Pediatrics. 25:34-51
Publikováno v:
Annals of Indian Academy of Neurology, Vol 26, Iss 4, Pp 578-580 (2023)
Externí odkaz:
https://doaj.org/article/20d405ce733d4b7a8b887e65c662c68b