Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Chahnez, Charfi Triki"'
Autor:
Chahnez Charfi Triki, Salma Zouari Mallouli, Marwa Ben Jdila, Mariem Ben Said, Fatma Kamoun Feki, Sarah Weckhuysen, Sabeur Masmoudi, Faiza Fakhfakh
Publikováno v:
Epilepsia Open, Vol 9, Iss 3, Pp 906-917 (2024)
Abstract Objective Mutations in the cyclin‐dependent kinase‐like 5 gene (CDKL5) are associated with a wide spectrum of clinical presentations. Early‐onset epileptic encephalopathy (EOEE) is the most recognized phenotype. Here we describe phenot
Externí odkaz:
https://doaj.org/article/c640a6965bed4f77a3a6d07f66909886
Autor:
Nihel Ammous-Boukhris, Rania Abdelmaksoud-Dammak, Dorra Ben Ayed-Guerfali, Souhir Guidara, Olfa Jallouli, Hassen Kamoun, Chahnez Charfi Triki, Raja Mokdad-Gargouri
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Ataxia-telangiectasia (A-T) is an autosomal recessive primary immunodeficiency disorder (PID) caused by biallelic mutations occurring in the serine/threonine protein kinase (ATM) gene. The major role of nuclear ATM is the coordination of cell signali
Externí odkaz:
https://doaj.org/article/447df5b6af4a40069beb0e0ba22c9786
Autor:
Ikhlas Ben Ayed, Olfa Jallouli, Yoshiko Murakami, Amal Souissi, Salma Mallouli, Amal Bouzid, Fatma Kamoun, Ines Elloumi, Fakher Frikha, Abdelaziz Tlili, Sarah Weckhuysen, Taroh Kinoshita, Chahnez Charfi Triki, Saber Masmoudi
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Pathogenic germline variants in the PIGT gene are associated with the “multiple congenital anomalies–hypotonia-seizures syndrome 3” (MCAHS3) phenotype. So far, fifty patients have been reported, most of whom suffer from intractable epilepsy. Re
Externí odkaz:
https://doaj.org/article/b81bd57e58bf4419a6550dcb1a914289
Autor:
Lara Jehi, Nathalie Jette, Churl‐Su Kwon, Colin B. Josephson, Jorge G. Burneo, Fernando Cendes, Michael R. Sperling, Sallie Baxendale, Robyn M. Busch, Chahnez Charfi Triki, J. Helen Cross, Dana Ekstein, Dario J. Englot, Guoming Luan, Andre Palmini, Loreto Rios, Xiongfei Wang, Karl Roessler, Bertil Rydenhag, Georgia Ramantani, Stephan Schuele, Jo M. Wilmshurst, Sarah Wilson, Samuel Wiebe
Publikováno v:
Epilepsia. 63:2491-2506
Epilepsy surgery is the treatment of choice for patients with drug-resistant seizures. A timely evaluation for surgical candidacy can be life-saving for patients who are identified as appropriate surgical candidates, and may also enhance the care of
Autor:
Abir Ben Issa, Ikhlas Ben Ayed, Olfa Jallouli, Amal Souissi, Wafa Bouchaalla, Mariem Ben Said, Salma Mallouli, Saber Masmoudi, Chahnez Charfi Triki, Hassen Hadj Kacem, Fatma Kammoun
Publikováno v:
International Journal of Developmental Neuroscience.
Autor:
Salma Zouari Mallouli, Sahar Najjar, Fatma Kamoun Feki, Olfa Jallouli, Sihem Ben Nsir, Wafa Bouchaala, Matilde Leonardi, Chahnez Charfi Triki
Publikováno v:
International Journal of Public Health Science (IJPHS). 12:239
To record the experience of caregivers for neurologically impaired children during the lockdown periods. Data from 286 children's caregivers were collected through an administered questionnaire to record: access to care services during the lockdown p
Autor:
Deanna Saylor, Charles R. Newton, Chahnez Charfi Triki, David García-Azorín, Katrin Seeher, Njideka U Okubadejo, Andrea Pilotto, Andrea Sylvia Winkler, Matilde Leonardi
Publikováno v:
Journal of Neurology
Background The COVID-19 pandemic leads to disruptions of health services worldwide. To evaluate the particular impact on neurological services a rapid review was conducted. Methods Studies reporting the provision of neurological services during the p
Autor:
Marwa Kharrat, Chahnez Charfi Triki, Olfa Alila-Fersi, Olfa Jallouli, Bassem khemakham, Salma Mallouli, Marwa Maalej, Marwa Ammar, Fakher frikha, Fatma Kamoun, Faiza Fakhfakh
Publikováno v:
Journal of molecular neuroscience : MN. 72(8)
FoxG1 encoded by FOXG1 gene is a transcriptional factor interacting with the DNA of targeted genes as well as with several proteins to regulate the forebrain development. Mutations in the FOXG1 gene have been shown to cause a wide spectrum of brain d
Autor:
Salma Zouari Mallouli, Charles R. Newton, Kimberly Coard Karlshoej, Chahnez Charfi Triki, Donna Walsh, Deanna Saylor, Njideka U Okubadejo, David García-Azorín, Andrea Sylvia Winkler, Andrea Pilotto, Matilde Leonardi, Martina Cacciatore, Kiran T. Thakur, Erica Westenberg, Francesca Giulia Magnani
Publikováno v:
Journal of Neurology
Background The COVID-19 pandemic outbreak has dramatically disrupted healthcare systems. Two rapid WHO pulse surveys studied disruptions in mental health services, but did not particularly focus on neurology. Here, a global survey was conducted and a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e659ec935b46ab874b2fe11d8231dca
http://hdl.handle.net/11379/555115
http://hdl.handle.net/11379/555115
Autor:
Tanuja Chitnis, Brenda Banwell, Ludwig Kappos, Douglas L Arnold, Kivilcim Gücüyener, Kumaran Deiva, Natalia Skripchenko, Li-Ying Cui, Stephane Saubadu, Wenruo Hu, Myriam Benamor, Annaig Le-Halpere, Philippe Truffinet, Marc Tardieu, Benedicte Dubois, Helene Verhelst, Veneta Bojinova-Tchamova, Jean Mah, Fang Fang, Yunpeng Hao, Li Jiang, Ling Li, Ding'An Mao, Wei Qiu, Guojun Tan, Ye Wu, Meini Zhang, Hongyu Zhou, Shuizhen Zhou, Katrin Gross-Paju, Emmanuel Cheuret, Giles Edan, Sandra Vukusic, George Chrousos, Dimitrios Zafeiriou, Anat Achiron, Adi Vaknin-Dembinsky, Bassem Yamout, Jurate Laurynaitiene, Nerija Vaiciene-Magistris, Vladimir Bojkovski, Vesna Trajkova, Sana Chaouki, Najib Kissani, Rinze Neuteboom, Filipe Palavra, Anna Belova, Alexey Boyko, Evgeny Evdoshenko, Ekaterina Kairbekova, Nadezhda Malkova, Maria Shumilina, Natalya Skripchenko, Dimitrije Nikolic, Jose Meca-Lallana, Chahnez Charfi Triki, Mhiri Chokri, Riadh Gouider, Banu Anlar, Ayse Semra Hiz, Egemen Idiman, Recai Turkoglu, Zuhal Yapici, Unsal Yilmaz, Lyudmyla Tantsura, Nataliia Voloshyna, Ming Lim, Evangeline Wassmer, Mark Cascione, Christopher LaGanke, Kevin Rathke, John Scagnelli
Publikováno v:
The Lancet Neurology, 20(12), 1001-1011. Lancet Publishing Group
Background: Therapeutic options for children with multiple sclerosis are scarce. Teriflunomide is approved in more than 80 countries for the treatment of adults with relapsing multiple sclerosis. The TERIKIDS study examined the safety and efficacy of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ccabed9102b9a00a1d52c5bf3629e63
https://pure.eur.nl/en/publications/9a1acc50-a431-44d3-9955-e7dcdc6b22c3
https://pure.eur.nl/en/publications/9a1acc50-a431-44d3-9955-e7dcdc6b22c3