Distinguishing 3 Classes of Corpus Callosal Abnormalities in Consanguineous Families

Autor: Ghada M H Abdel-Salam, Sarah E. Marsh, Anna Rajab, Joseph G. Gleeson, Shifteh Sattar, Laila Bastaki, William B. Dobyns, R.B. Dietrich, N.A. Chuang, Elliott H. Sherr, Dominika Swistun, Hülya Kayserili, Lihadh Al-Gazali, Chip Truwit, Asma A. Al-Tawari, Ramy M Hanna, Maha S. Zaki, B. Boglárka

Publikováno v: Neurology. 99(6)

Objective: We sought to create a classification system for pediatric corpus callosal abnormalities (CCA) based upon midline sagittal brain MRI. We used the term CCA for patients with structural variants of the corpus callosum, excluding patients with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d8f74b55cd95c0e1a973b7b8520c506
https://pubmed.ncbi.nlm.nih.gov/21263138

Neurocysticercosis in non-endemic Muslim areas: A report of seven cases from Kuwait

Autor: Jamila K. Abdulla, Musuwadi S. Gopinath, Asma A. Al-Tawari, Lada Cindro-Heberle, David Neubauer

Publikováno v: Journal of Pediatric Neurology. :257-260

Neurocysticercosis is the most common parasitic central nervous system disease and the major cause of epilepsy in non-Muslim developing countries. Cases also occur in non-endemic regions reflecting pattern of immigration from highly endemic areas. In

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e7d56830477823dfbb960baf49105b27
https://doi.org/10.1055/s-0035-1557338

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

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 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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8f64992e7a2eb93dc8f809d7d786fcf
https://doi.org/10.1002/humu.21239

Everolimus treatment in patient with tuberous sclerosis complex and giant cell astrocytoma (SEGA) – Kuwait experience

Autor: Lada Cindro Heberle, Asma A. Al Tawari, Bosanka Jocic-Jakubi

Publikováno v: European Journal of Paediatric Neurology. 21:e81

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ca7470df7dd52e7718dde5dd86326e42
https://doi.org/10.1016/j.ejpn.2017.04.1278

Expanding CEP290 mutational spectrum in ciliopathies

Autor: S. Halldorsson, Elliott H. Sherr, Susana Quijano-Roy, Gaetano Tortorella, Marc D'Hooghe, M. M. De Jong, J. Caldwell, Gian M. Ghiggeri, Josseline Kaplan, Christopher P. Bennett, S. Comu, Vincenzo Leuzzi, Anna Rajab, Mary Kay Koenig, Serap Teber, Barbara Scelsa, G. Marra, S. Kitsiou Tzeli, D. Petkovic, Alex E. Clark, Bruno Dallapiccola, P. Collignon, V. Sabolic Avramovska, Richard J. Leventer, Robert P. Cruse, Sabrina Signorini, Raoul C.M. Hennekam, Nicole I. Wolf, A. M. Laverda, Brunella Mancuso, Clotilde Lagier-Tourenne, Kathrin Ludwig, C. Moco, Ender Karaca, Amy Goldstein, Stefania Bigoni, L. I. Al Gazali, Laila Bastaki, Jean Messer, E. Del Giudice, M. Cazzagon, A. Permunian, C. Ae Kim, Edward Blair, M. Di Giacomo, E. DeMarco, Melissa Lees, Renato Borgatti, Marilena Briguglio, H. Raynes, Renaud Touraine, Andreas Zankl, E. Finsecke, Itxaso Marti, Lorenzo Pinelli, S. Romano, Isabelle Perrault, Jane A. Hurst, Eamonn Sheridan, Kenton R. Holden, T. E. Gallager, P. De Lonlay, M. L. Di Sabato, Marina Michelson, Hülya Kayserili, Terry D. Sanger, Heike Philippi, Patrizia Accorsi, M. Silengo, Miriam Iannicelli, Lorena Travaglini, K. Dias, Gianluca Caridi, Loredana Boccone, J. Johannsdottir, R. De Vescovi, P. Ludvigsson, J. Hahn, Tania Attié-Bitach, Franco Stanzial, Silvia Battaglia, Francesco Brancati, Ghada M. H. Abdel-Salam, William B Dobyns, Enrico Bertini, Daria Riva, F. Benedicenti, Joseph G. Gleeson, Ryan D. Schubert, Roshan Koul, Kalpathy S. Krishnamoorthy, Luigina Spaccini, G. Uziel, Jean-Michel Rozet, M.A. Donati, Marzia Pollazzon, Sophie Audollent, Matloob Azam, Alex Magee, A. Adami, Ignacio Pascual-Castroviejo, Bernard Stuart, Rita Fischetto, Darryl C. De Vivo, Christopher A. Walsh, Asma A. Al-Tawari, Carla Uggetti, Alessandra Ferlini, Atıl Yüksel, Enza Maria Valente, Agnese Suppiej, Faustina Lalatta, Lucio Giordano, Maria Roberta Cilio, Bernard L. Maria, Trudy McKanna, S. Sigaudy, L. Demerleir, Carmelo Salpietro, Henry Sanchez, Bruria Ben-Zeev, A. Pessagno, Elisa Fazzi, J. Milisa, Shubha R. Phadke, D. Greco, Dominika Swistun, Yves Sznajer, B. Rodriguez, Silvana Briuglia, V. Udani, Francesca Faravelli, Maha S. Zaki, S. Bernes, Maria Teresa Divizia, C. Daugherty, David G. Brooks, Clara Barbot, László Sztriha, C. Donahue, Wendy K. Chung, Dean Sarco, Pierangela Castorina, Petter Strømme, Pasquale Parisi, Andreas R. Janecke, Roberta Battini, L. Martorell Sampol, M. Akcakus, Angela Barnicoat, Jerlyn C Tolentino, Dorit Lev, A. Seward, Banu Anlar, Corrado Romano, D. Nicholl, A. Moreira, Alice Abdel-Aleem, Padraic Grattan-Smith, C. G. Woods, Gustavo Maegawa, Alessandro Simonati, Kathryn J. Swoboda, David Viskochil, Luciana Rigoli, R. Van Coster, André Mégarbané

Publikováno v: American Journal of Medical Genetics, Part A, 149(10), 2173-2180. Wiley-Liss Inc.
American journal of medical genetics. Part A, 149A(10), 2173-2180. Wiley-Liss Inc.
International JSRD Study Group 2009, ' Expanding CEP290 mutational spectrumin ciliopathies ', American Journal of Medical Genetics, Part A, vol. 149, no. 10, pp. 2173-2180 . https://doi.org/10.1002/ajmg.a.33025

Ciliopathies are an expanding group of rare conditions characterized by multiorgan involvement, that are caused by mutations in genes encoding for proteins of the primary cilium or its apparatus. Among these genes, CEP290 bears an intriguing allelic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f64afa39636eb3bd0d703cd79fea0af0
https://doi.org/10.1002/ajmg.a.33025