Zobrazeno 1 - 10
of 225
pro vyhledávání: '"Semra Hiz"'
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
Autor:
Annabelle Arlt, Nicolai Kohlschmidt, Andreas Hentschel, Enrika Bartels, Claudia Groß, Ana Töpf, Pınar Edem, Nora Szabo, Albert Sickmann, Nancy Meyer, Ulrike Schara-Schmidt, Jarred Lau, Hanns Lochmüller, Rita Horvath, Yavuz Oktay, Andreas Roos, Semra Hiz
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-19 (2022)
Abstract Background Goltz syndrome (GS) is a X-linked disorder defined by defects of mesodermal- and ectodermal-derived structures and caused by PORCN mutations. Features include striated skin-pigmentation, ocular and skeletal malformations and super
Externí odkaz:
https://doaj.org/article/82ae0241ff1e44fc9314229249815e34
Autor:
Serdal Gungor, Yavuz Oktay, Semra Hiz, Álvaro Aranguren-Ibáñez, Ipek Kalafatcilar, Ahmet Yaramis, Ezgi Karaca, Uluc Yis, Ece Sonmezler, Burcu Ekinci, Mahmut Aslan, Elmasnur Yilmaz, Bilge Özgör, Sunitha Balaraju, Nora Szabo, Steven Laurie, Sergi Beltran, Daniel G. MacArthur, Denisa Hathazi, Ana Töpf, Andreas Roos, Hanns Lochmuller, Isabelle Vernos, Rita Horvath
Publikováno v:
iScience, Vol 24, Iss 1, Pp 101948- (2021)
Summary: Microtubules help building the cytoskeleton of neurons and other cells. Several components of the gamma-tubulin (γ-tubulin) complex have been previously reported in human neurodevelopmental diseases. We describe two siblings from a consangu
Externí odkaz:
https://doaj.org/article/2e92aa318b974cfabac7dd6e6609004b
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
Publikováno v:
Annals of Saudi Medicine, Vol 33, Iss 1, Pp 73-75 (2013)
Aicardi syndrome (AS) is an X-linked inherited disorder characterized by infantile spasms, chorioretinal lacunae, and agenesis or hypogenesis of the corpus callosum. The syndrome is more frequently seen in females but is observed in XXY male patients
Externí odkaz:
https://doaj.org/article/f8081508666f4983935612baf9ef1daa
Autor:
Direk, Meltem Çobanoğulları, Besen, Şeyda, Öncel, İbrahim, Günbey, Ceren, Özdoğan, Orhan, Orgun, Leman Tekin, Sahin, Sevim, Cansu, Ali, Yıldız, Nihal, Kanmaz, Seda, Yılmaz, Sanem, Tekgül, Hasan, Türkdoğan, Dilşad, Ünver, Olcay, Thomas, Gülten Öztürk, Başıbüyük, Salih, Yılmaz, Deniz, Kurt, Ayşegül Neşe, Gültutan, Pembe, Özsoy, Özlem, Yiş, Uluç, Kurul, Semra Hız, Güngör, Serdal, Özgör, Bilge, Karadağ, Meral, Dündar, Nihal Olgaç, Gençpınar, Pınar, Bildik, Olgay, Orak, Sibğatullah Ali, Kabur, Çişil Çerçi, Kara, Bülent, Karaca, Ömer, Canpolat, Mehmet, Gümüş, Hakan, Per, Hüseyin, Yılmaz, Ünsal, Karaoğlu, Pakize, Ersoy, Özlem, Tosun, Ayşe, Öztürk, Semra Büyükkorkmaz, Yüksel, Deniz, Atasoy, Ergin, Gücüyener, Kıvılcım, Yıldırım, Miraç, Bektaş, Ömer, Çavuşoğlu, Dilek, Yarar, Çoşkun, Güngör, Olcay, Mert, Gülen Gül, Sarıgeçili, Esra, Edizer, Selvinaz, Çetin, İpek Dokurel, Aydın, Seren, Diler, Betül, Özdemir, Asena Ayça, Erol, İlknur, Okuyaz, Çetin, Anlar, Banu
Publikováno v:
In Multiple Sclerosis and Related Disorders January 2024 81
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