Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Romaine Schubert"'
Publikováno v:
Clinical Practice and Cases in Emergency Medicine, Vol 1, Iss 1 (2017)
Desmoplastic infantile ganglioglioma (DIG) is a supratentorial superficially-located cystic neuroepithelial tumor. It is an exceedingly rare tumor with an incidence of
Externí odkaz:
https://doaj.org/article/c58ff076cb784bd2880b5e64833e8b2b
Publikováno v:
Neurology: Genetics
Copy number variants (CNVs) of 1q21.1 are increasingly being recognized due to the widespread use of genetic screening tests for the investigation of developmental disorders and epilepsy. These include microdeletion and microduplication syndromes, as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e49565978b49714378056acbfd029411
https://doi.org/10.1212/nxg.0000000000000219
https://doi.org/10.1212/nxg.0000000000000219
Autor:
Romaine Schubert
Publikováno v:
Pediatric Neurology. 32:1-10
Countless studies have demonstrated that patients with epilepsy have a significant increase in behavioral disturbances of all kinds, including hyperactivity and inattention. This finding has been demonstrated in studies utilizing observer questionnai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5f454bf482a95b5f3d34ea12f4fe061
https://doi.org/10.1016/j.pediatrneurol.2004.06.007
https://doi.org/10.1016/j.pediatrneurol.2004.06.007
Autor:
Carolyn M. Sue, Salvatore DiMauro, Kurenai Tanji, Romaine Schubert, Sara Shanske, Eduardo Bonilla, Joceline Ojaimi, Sindu Krishna, Cigdem I. Akman
Publikováno v:
Journal of Child Neurology. 19:258-261
A 3½-year-old boy presented with megaloblastic anemia and recurrent episodes of severe lactic acidosis and coma. At age 4 years, he developed sepsis and died; postmortem examination failed to show any gross abnormality in any tissue. Biochemical ana
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e86ff4cec587bdb6202e8f573bb3a980
https://doi.org/10.1177/088307380401900403
https://doi.org/10.1177/088307380401900403
Autor:
Deborah Pang, Florence Lai, Yaakov Stern, Romaine Schubert, Benjamin Tycko, Nicole Schupf, Michel Ferin, Bindu Patel, Richard Mayeux, Wayne Silverman, Jennie Kline
Publikováno v:
Annals of Neurology. 54:433-438
Women with Down's syndrome experience early onset of both menopause and Alzheimer's disease. This timing provides an opportunity to examine the influence of endogenous estrogen deficiency, indicated by age at menopause, on risk of Alzheimer's disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a05bf053bf26855567a78b3975b5c9d
https://doi.org/10.1002/ana.10677
https://doi.org/10.1002/ana.10677
Publikováno v:
Clinical Pediatrics. 36:149-154
We describe a young urban boy with atypically fulminant subacute sclerosing panencephalitis (SSPE). He had measles at 3 years of age despite receiving measles immunization in infancy. The literature describing acute SSPE is reviewed and summarized. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::526397bf77e440603d8644b9d296784d
https://doi.org/10.1177/000992289703600306
https://doi.org/10.1177/000992289703600306
Publikováno v:
Pediatric neurology. 48(3)
We report a 14-month old child with multiple episodes of febrile status epilepticus, followed by chorea and developmental regression, caused by human herpes virus-6 encephalitis. Chorea has been described as a complication of relapsing herpes simplex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df46200a3ecf922fe692fec284dfd050
https://pubmed.ncbi.nlm.nih.gov/23419479
https://pubmed.ncbi.nlm.nih.gov/23419479
Publikováno v:
Journal of Child Neurology. 17:152-154
Gelastic seizures are characterized by inappropriate, stereotyped laughter and are often first recognized when other epileptic manifestations occur. They are frequently associated with hypothalamic hamartomas. Central nervous system developmental abn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::846ad11a5c340d0f9ccb590c9f67f63d
https://doi.org/10.1177/088307380201700215
https://doi.org/10.1177/088307380201700215
Autor:
Pascale de Lonlay, Ana Moreira, Clement Donahue, Graziella Uziel, Karin Dias, Silvana Briuglia, Saevar Halldorsson, Francesca Faravelli, William B. Dobyns, Bernard Stuart, Berta Rodriguez, Alberto Permunian, Laila Bastaki, Enrico Bertini, Lihadh Al Gazali, Michel Koenig, Richard J. Leventer, Saunder Bernes, Hillary Raynes, Bruno Dallapiccola, Chong Ae Kim, Jean Messer, Renaud Touraine, Carla Moco, Alessandro Simonati, Enza Maria Valente, Kathryn J. Swoboda, Mustafa Akcakus, Gustavo Maegawa, Lucio Giordano, Sinan Comu, Lorena Travaglini, Cynthia Daugherty, Shubha R. Phadke, Alex Magee, Sofia Kitsiou Tzeli, Elliot Sherr, Marina Michelson, Maha S. Zaki, Kenton R. Holden, Luciana Rigoli, Henry Sanchez, Ignacio Pascual-Castroviejo, Stefania Maria Bova, Robert P. Cruse, Alessandra Ferlini, Maria Alice Donati, Andreas R. Janecke, Rudy Van Coster, Amy Goldstein, David Nicholl, Mirjam M. de Jong, Melissa Lees, Clotilde Lagier-Tourenne, Loredana Boccone, Itxaso Marti, Peter Ludvigsson, Lorenzo Pinelli, Joanne Milisa, [No Value] Ahmad, Joseph G. Gleeson, Carmelo Salpietro, Terence D. Sanger, Elysa DeMarco, Dorit Lev, Alice Abdel-Aleem, Bruria Ben-Zeev, Asma A. Al-Tawari, Francesco Emma, Eco Finsecke, Pasquale Parisi, Roberta Battini, László Sztriha, Padraic Grattan-Smith, Maria Roberta Cilio, Matloob Azam, C. Geoffrey Woods, Elena Procopio, S. Romano, Hülya Kayserili, Martino Ruggieri, Christopher P. Bennett, Roshan Koul, Susana Quijano-Roy, Darryl C. De Vivo, Dave Viskochil, G. Montagna, Anna Rajab, Jennifer L. Silhavy, M. Gentile, Dean Sarco, Gaetano Tortorella, Jane A. Hurst, Chiara Pantaleoni, Kalpathy S. Krishnamoorthy, Patrizia Accorsi, Eugen Boltshauser, James Caldwell, Anna Maria Laverda, Daria Riva, Francesco Brancati, Trudy McKanna, Marilu Di Sabato, Jonina Johannsdottir, Marc D'Hooghe, Gian Marco Ghiggeri, David G. Brooks, Clara Barbot, Stefania Bigoni, Heike Philippi, Alison Seward, Gianluca Caridi, D. Zablocka, Alain Verloes, Aldon E. Clark, Wendy K. Chung, Rita Fischetto, Ghada M H Abdel-Salam, Silvia Battaglia, Raoul C.M. Hennekam, Bernard L. Maria, Romaine Schubert, Christopher A. Walsh, Tomas E. Gallager, Giuseppe Barrano, Stefano D'Arrigo, Vincenzo Leuzzi
Joubert syndrome-related disorders (JSRDs) are autosomal recessive pleiotropic conditions sharing a peculiar cerebellar and brainstem malformation known as the 'molar tooth sign' (MTS). Recently, mutations in a novel ciliary gene, RPGRIP1L, have been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62211f8ecf25bb4cb028da7fe64b0a3e
http://hdl.handle.net/11570/3092293
http://hdl.handle.net/11570/3092293
Autor:
Valente, Em, Brancati, F, Silhavy, Jl, Castori, M, Marsh, Se, Barrano, G, Bertini, E, Boltshauser, E, Zaki, Ms, Abdel Aleem, A, Abdel Salam GM, Bellacchio, E, Battini, R, Cruse, Rp, Dobyns, Wb, Krishnamoorthy, Ks, Lagier Tourenne, C, Magee, A, Pascual Castroviejo, I, SALPIETRO DAMIANO, Carmelo, Sarco, D, Richard, Leventer, Padraic Grattan Smith, Andreas, Janecke, Marc, D’Hooghe, Rudy Van Coster, Karin, Dias, Carla, Moco, Ana, Moreira, Chong Ae Kim, Gustavo, Maegawa, Itxaso, Marti, Susana Quijano Roy, Alain, Verloes, Renaud, Touraine, Miche, Bernard, Stuart, Dorit, Lev, Bruria Ben Zeev, Rita, Fischetto, Mattia, Gentile, Lucio, Giordano, Loredana, Boccone, Martino, Ruggieri, Stefania, Bigoni, Maria Alide Donati, Elena, Procopio, Gianluca, Caridi, Francesca, Faravelli, Gianmarco, Ghiggeri, Briuglia, Silvana, Gaetano, Tortorella, Stefano, D’Arrigo, Chiara, Pantaleoni, Daria, Riva, Graziella, Uziel, Stefania, Bova, Elisa, Fazzi, Sabrina, Signorini, Maria Roberta Cilio, Marilu` Di Sabato, Francesco, Emma, Vincenzo, Leuzzi, Pasquale, Parisi, Alessandro, Simonati, de Jong, Mirjam M., Matloob, Azam, Berta, Rodriguez, Hulya, Kayserili, Lihadh Al Gazali, Laszlo, Sztriha, David, Nicholl, Geoffrey Woods, C., Raoul, Hennekam, Saunder, Bernes, Henry, Sanchez, Clark, Aldon E., Elysa, Demarco, Clement, Donahue, Elliot, Sherr, Jin, Hahn, Terence, D, Sanger, Gallager H, Tomas E., Cynthia, Daugherty, Walsh, Christopher A., Trudy, Mckanna, Joanne, Milisa, Chung, Wendy K., De Vivo, Darryl C., Hillary, Raynes, Romaine, Schubert, Alison, Seward, Brooks, David G., Amy, Goldstein, James, Caldwell, Eco, Finsecke, Kenton, Holden, Swobod, Kathryn J., Dave Viskochil, Dallapiccola, B, Gleeson, Jg
Publikováno v:
Valente, E M; Brancat, F; Silhavy, J L; Castori, M; March, S E; Barrano, G; et al.(2006). AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Annals of Neurology, 59(3), 527-534. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/4jp5t97n
Author(s): Valente, E M; Brancat, F; Silhavy, J L; Castori, M; March, S E; Barrano, G; Bertini, E; Boltshauser, E; Zaki, M S; Abdel-Aleem, A; Abdel-Salam, GMH; Bellacchlo, E; Battini, R; Cruse, R P; Dobyns, W B; Krishnamoorthy, K S; Lagier-Tourenne,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3243eb573c5d84d0efe6229042b9a7cb
https://pubmed.ncbi.nlm.nih.gov/16453322
https://pubmed.ncbi.nlm.nih.gov/16453322