Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Bosanka Jocic-Jakubi"'
Autor:
Ivana Markovic, Zoran Milenkovic, Bosanka Jocic-Jakubi, Amna Al Futaisi, Kakaria Anupam Kakaria, Yasser Walli
Publikováno v:
BMC Neurology, Vol 22, Iss 1, Pp 1-7 (2022)
Abstract Background Congenital absence of the internal carotid artery (ICA) is a highly infrequent congenital incidence and occurs in less than 0.01% of the population; bilateral absence is exceedingly rare, diagnosed below 10% of the unilateral abse
Externí odkaz:
https://doaj.org/article/6522b881fd5a46ce907af47e697740eb
Autor:
Pauline Samia, Jitendra Kumar Sahu, Amza Ali, Roberto Horacio Caraballo, Josephine Chan, Ana Carolina Coan, Pablo Sebastián Fortini, Samson Gwer, Bosanka Jocic-Jakubi, Najib Kissani, Yanin Rivera, Fred Stephen Sarfo, Mamta Bhushan Singh, Eugen Trinka, Ji Yeoun Yoo, Hsiang-Yu Yu, Johan Zelano, J.Helen Cross
Publikováno v:
Seizure. 106:85-91
Publikováno v:
Cureus. 14(8)
Objectives The coexistence of generalized epileptiform discharges of 3Hz spike-and-wave complexes, which are the hallmark of childhood absence epilepsy (CAE), and centrotemporal spikes, which are characteristic of benign epilepsy with centrotemporal
Publikováno v:
The Neuroradiology Journal. :197140092311546
Aicardi–Goutières syndrome (AGS) is an autosomal recessive disease that mimics congenital viral infection and mainly affects the brain, immune system, and skin. The dominant clinical symptom is the subacute onset of severe encephalopathy, which ma
Autor:
Romina Romaniello, Renato Borgatti, Lorenzo Pinelli, Elena Panzeri, Bosanka Jocic-Jakubi, Filippo Arrigoni, Filippo Manti, Caterina Caputi, Anna Pichiecchio, Andrea Righini, Valentina Serpieri, Elisabetta Lucarelli, Maria Clara Bonaglia, Enza Maria Valente, Vincenzo Leuzzi, Luisa Chiapparini, Fulvio D’Abrusco
Publikováno v:
Cerebellum (London, England). 21(6)
Joubert syndrome (JS) is a recessively inherited ciliopathy, characterized by a specific cerebellar and brainstem malformation recognizable on brain imaging as the "molar tooth sign" (MTS). Clinical signs include hypotonia, developmental delay, breat
Autor:
Bosanka Jocic-Jakubi
Publikováno v:
The Importance of Photosensitivity for Epilepsy ISBN: 9783319050799
Photosensitivity is denoted as an abnormal clinical and/or electroencephalographic (EEG) response to visual stimuli and can be proven in EEG laboratory using intermittent photic stimulation (IPS). The epileptiform EEG discharges evoked by Intermitten
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1575725af200a4a36fa0082ae1507006
https://doi.org/10.1007/978-3-319-05080-5_11
https://doi.org/10.1007/978-3-319-05080-5_11
Autor:
Ivana Markovic, Zoran Milenkovic, Bosanka Jocic-Jakubi, Amna Al Futaisi, Kakaria Anupam Kakaria, Yasser Walli
Publikováno v:
BMC neurology. 22(1)
Background Congenital absence of the internal carotid artery (ICA) is a highly infrequent congenital incidence and occurs in less than 0.01% of the population; bilateral absence is exceedingly rare, diagnosed below 10% of the unilateral absence of th
Autor:
Uluç Yiş, Coskun Yarar, Bosanka Jocic-Jakubi, Rudolf Korinthenberg, Jens Teichler, Dana Craiu, Iliyana Patcheva, Ayse Aksoy, Semra Hız-Kurul, Deniz Yüksel, Mihaela Vintan, Hans Hartmann, Ahmet Yaramis, Şakir Altunbaşak, Aydan Angay, Michael Alber, Banu Anlar, Martin Häusler, Marissa B. Lukban, Takashi Ichiyama, Catrinel Iliescu, Gülşen Köse, Mehpare Ozkan, Oana Tarta Arsene
Subacute sclerosing panencephalitis (SSPE) is a chronic infection of the central nervous system caused by the measles virus (MV). Its prevalence remains high in resource poor countries and is likely to increase in the Northern Europe as vaccination r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8850356c344b4944ac544fd98f0e478e
https://avesis.deu.edu.tr/publication/details/08b970a8-0990-4070-a034-8cbc4e17f836/oai
https://avesis.deu.edu.tr/publication/details/08b970a8-0990-4070-a034-8cbc4e17f836/oai
Autor:
Julia Strobel, Ruta Mameniskiene, Petr Marusic, Konstantin Mukhin, Roberto Michelucci, Francesca Ragona, Ulrich Stephani, Carla Bentes, Hans Høgenhaven, Peter Wolf, Petia Dimova, Aglaia Vignoli, Maria Paola Canevini, Bernhard Oehl, Bosanka Jocic Jakubi, Gayane Melikyan, Andrea O. Rossetti, Thomas Bast, Guido Rubboli, Jana Zárubová, Susanne Schubert, Tiziana Granata
Publikováno v:
Epilepsia. 52:1168-1176
SUMMARY Purpose: To gain new insights into the clinical presentation, causes, treatment and prognosis of epilepsia partialis continua (EPC), and to develop hypotheses to be tested in a prospective investigation. Methods: In this retrospective multice
Autor:
S. Kitsiou Tzeli, Hülya Kayserili, L. Giordano, B. Rodriguez, P. Collignon, V. Sabolic Avramovska, Silvana Briuglia, Christopher A. Walsh, Laila Bastaki, Amy Goldstein, Francesca Faravelli, F. Papadia, A. Permunian, Alessandro Simonati, S. Halldorsson, Gian Marco Ghiggeri, David G. Brooks, Clara Barbot, Kathryn J. Swoboda, Chiara Pantaleoni, O. D'Addato, Jason W. Caldwell, Maria Roberta Cilio, Soumaya Mougou-Zerelli, M. Vascotto, Andreas Zankl, Gaetano Tortorella, Julia Tantau, Elliott H. Sherr, Patrizia Accorsi, Maurizio Genuardi, Carmelo Salpietro, G. Marra, Pierangela Castorina, Petter Strømme, J. Johannsdottir, Bruno Dallapiccola, Kenton R. Holden, Donatella Greco, Maria Spanò, Pasquale Parisi, Roberta Battini, Paola Grammatico, P. Ludvigsson, Dorit Lev, Daria Riva, C. Ae Kim, WB Dobyns, L. Martorell Sampol, Robert P. Cruse, H. Raynes, Sabrina Signorini, A. Seward, Raoul C.M. Hennekam, Elena Andreucci, Manuela Priolo, Banu Anlar, Bernard Stuart, Christopher P. Bennett, S. Comu, Christopher Geoffrey Woods, Vlatka Mejaški-Bošnjak, J. Milisa, Eamonn Sheridan, Melissa Lees, C. Moco, Ender Karaca, Miriam Iannicelli, Annalisa Mazzotta, C. Dacou-Voutetakis, Tania Attié-Bitach, Philippe Loget, D. Petkovic, L. Demerleir, Loredana Boccone, Meriem Tazir, Kalpathy S. Krishnamoorthy, Damir Lončarević, Dominika Swistun, Yves Sznajer, Stefano D'Arrigo, Ginevra Zanni, Angela Barnicoat, Marina Michelson, L. I. Al Gazali, Vincenzo Leuzzi, G. Uziel, A. Adami, B. Gener Querol, V. Udani, M. Di Giacomo, Maryse Bonnière, Enrico Bertini, K. Dias, Edward Blair, Johannes M. Penzien, M. Cazzagon, Susana Quijano-Roy, Trine Prescott, Barbara Scelsa, Giuseppina Vitiello, Francesco Brancati, Gilda Stringini, Trudy McKanna, Roser Pons, Renato Borgatti, M. Gentile, Dean Sarco, C. Von Der Lippe, Eugen Boltshauser, Luigina Spaccini, A. Pessagno, Alex Magee, Marilena Briguglio, Margherita Silengo, Lena Starck, M. L. Di Sabato, Roshan Koul, Nicole I. Wolf, A. M. Laverda, Elizabeth Flori, Clotilde Lagier-Tourenne, A. Matuleviciene, Matloob Azam, Kathrin Ludwig, Ghada M H Abdel-Salam, Atıl Yüksel, Johannes R. Lemke, Stefania Bigoni, Elizabeth Said, Anna Rajab, Mary Kay Koenig, Andreas R. Janecke, Asma A. Al-Tawari, Agnese Suppiej, Henry Sanchez, Wendy K. Chung, P. Guanciali, Heike Philippi, Silvia Majore, E. DeMarco, J. Hahn, Gianluca Caridi, Marc D'Hooghe, M. M. De Jong, M. Akcakus, Franco Stanzial, Silvia Battaglia, Gian Luigi Ardissino, Giangennaro Coppola, Jane A. Hurst, Terry D. Sanger, Alessandra Renieri, Nadia Elkhartoufi, Rita Fischetto, Alex E. Clark, S. Strozzi, S. Romano, Alain Verloes, Marzia Pollazzon, Elisa Fazzi, L. Yates, Faustina Lalatta, Sabine Sigaudy, Alessandra D'Amico, Brigitte Leroy, Joel Victor Fluss, David Viskochil, Alice Abdel-Aleem, Darryl C. De Vivo, Padraic Grattan-Smith, Corrado Romano, D. Nicholl, Regine Schubert, A. Moreira, Claudia Izzi, Barbara Gentilin, Gustavo Maegawa, Céline Gomes, László Sztriha, C. Donahue, Luciana Rigoli, Jean Messer, Sophie Thomas, E. Del Giudice, R. Van Coster, André Mégarbané, Ignacio Pascual-Castroviejo, Alessandra Ferlini, Topcu, R. Touraine, Ginevra Guanti, Lorena Travaglini, L. Ali Pacha, R. De Vescovi, Enza Maria Valente, Filippo Bernardi, L. Carr, Shubha R. Phadke, S. Bernes, Maria Teresa Divizia, C. Daugherty, M. Akgul, C. Macaluso, Maha S. Zaki, E. Finsecke, Itxaso Marti, Lorenzo Pinelli, F. McKay, Maria Amorini, Joseph G. Gleeson, F. Benedicenti, Bruria Ben-Zeev, Carla Uggetti, R. Romoli, Richard J. Leventer, Francesco Emma, T. E. Gallager, P. De Lonlay, Marco Seri, Bernard L. Maria, M.A. Donati, Bosanka Jocic-Jakubi
Publikováno v:
International JSRD Study Group 2010, ' Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies ', Human Mutation, vol. 31, no. 5, pp. E1319-E1331 . https://doi.org/10.1002/humu.21239
Human Mutation, 31(5), E1319-E1331. Wiley-Liss Inc.
Human Mutation, 31(5), E1319-E1331. Wiley-Liss Inc.
Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS) and nephronophthisis (NPH) present clinical and genet