Zobrazeno 1 - 10
of 51
pro vyhledávání: '"O Tarta-Arsene"'
Autor:
M. Budisteanu, S. Papuc, A. Erbescu, C. Iliescu, M. Dobre, D. Barca, O. Tarta-Arsene, C. Motoescu, A. Dica, C. Sandu, C. Anghelescu, D. Craiu, A. Arghir
Publikováno v:
European Psychiatry, Vol 64, Pp S638-S639 (2021)
Introduction Brain heterotopia represent a group of rare malformations with a heterogeneous phenotype, ranging from asymptomatic to severe clinical picture (resistant epilepsy, severe developmental delay). The etiology is multifactorial, including bo
Externí odkaz:
https://doaj.org/article/fdb52d98f68f4181a9a5d752df360ac7
Publikováno v:
Epileptic Disorders. 19:357-361
The WW domain-containing oxidoreductase gene is implicated in autosomal recessive disorders of the central nervous system, expressed either as spinocerebellar ataxia or as a severe form with early-infantile epileptic encephalopathy. Here, we describe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efb3f63f33962cddb9114741e52bec80
https://doi.org/10.1684/epd.2017.0924
https://doi.org/10.1684/epd.2017.0924
Publikováno v:
Oral Communications.
Video Recordings are very useful in the clinical practice. Most times physicians should diagnose their patients based on descriptions coming from parents or other family members that are emotionally involved. It is very difficult to differentiate som
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c41410feb51f5cb563345c3aefda017d
https://doi.org/10.1136/archdischild-2017-313273.5
https://doi.org/10.1136/archdischild-2017-313273.5
Autor:
Dana Craiu, I. Minciu, Catrinel Iliescu, D Barca, Cristina Pomeran, N. Butoianu, O Tarta-Arsene
Publikováno v:
Oral Communications.
Movement disorders are neurological syndromes affecting either the voluntary movements, or implying abnormal postures and also a large category of involuntary movements. The movement disorders in children are difficult to classify and describe and mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::45b610ed4b7f88f5e59bfaa7b3509abb
https://doi.org/10.1136/archdischild-2017-313273.51
https://doi.org/10.1136/archdischild-2017-313273.51
Autor:
Jennifer Hirst, Sarah von Spiczak, Helle Hjalgrim, José M. Serratosa, Dana Craiu, Zaid Afawi, Hande Caglayan, Sarah Weckhuysen, Johanna A. Jähn, Tine Deconinck, Stéphanie Baulac, Felix Rosenow, Pasquale Striano, Hiltrud Muhle, Tiina Talvik, Patrick May, Petia Dimova, Arvid Suls, Carolien G.F. de Kovel, O Tarta-Arsene, Ingo Helbig, Christel Depienne, Katia Hardies, Tania Djémié, Bobby P. C. Koeleman, Carla Marini, Karl Martin Klein, Renzo Guerrini, Federico Zara, Rikke S. Møller, Dorota Hoffman-Zacharska, Yvonne G. Weber, Ulrich Stephani, Nina Barišić, Anna-Elina Lehesjoki, Johannes R. Lemke, Holger Lerche, Rosa Guerrero-López, Peter De Jonghe, Rudy Balling, Eric LeGuern
Publikováno v:
Human molecular genetics
Hardies, K, May, P, Djémié, T, Tarta-Arsene, O, Deconinck, T, Craiu, D, Helbig, I, Suls, A, Balling, R, Weckhuysen, S, De Jonghe, P, Hirst, J, AR working group of the EuroEPINOMICS RES Consortium, Hjalgrim, H & Møller, R S 2015, ' Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly ', Human Molecular Genetics, vol. 24, no. 8, pp. 2218-2227 . https://doi.org/10.1093/hmg/ddu740
Hardies, K, May, P, Djémié, T, Tarta-Arsene, O, Deconinck, T, Craiu, D, Helbig, I, Suls, A, Balling, R, Weckhuysen, S, De Jonghe, P, Hirst, J, AR working group of the EuroEPINOMICS RES Consortium, Hjalgrim, H & Møller, R S 2015, ' Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly ', Human Molecular Genetics, vol. 24, no. 8, pp. 2218-2227 . https://doi.org/10.1093/hmg/ddu740
We report two siblings with infantile onset seizures, severe developmental delay and spastic paraplegia, in whom whole genome sequencing revealed compound heterozygous mutations in the AP4S1 gene, encoding the sigma subunit of the adaptor protein com
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81e88f2674d9b5c621007cd16bd9111e
https://doi.org/10.1093/hmg/ddu740
https://doi.org/10.1093/hmg/ddu740
Autor:
Philippe Ryvlin, Giorgi Kuchukhidze, Frans S. S. Leijten, Vladislav Gaskin, Brian E. Mouthaan, Stefano Francione, Hrvoje Hećimović, Elena Grigoreva, Antonio Gil-Nagel, Julien Jung, Christoph Helmstaedter, Teia Kobulashvili, Bertil Rydenhag, Kees P.J. Braun, Serge Vulliemoz, Anke M. Staack, Matea Rados, Vasilios K. Kimiskidis, Eugen Trinka, Viola Lara Vogt, Evelien Carrette, Petr Marusic, David W. Carmichael, Edouard Hirsch, Alla Guekht, Fergus J. Rugg-Gunn, Cigdem Ozkara, Roman Luzin, Valentin Stepanov, J. Helen Cross, Paul Boon, Sjoerd B. Vos, Anna Kelemen, Petia Dimova, Carlos M. Quesada, Bernhard J. Steinhoff, Morten I. Lossius, Hrvoje Pecina, Mustafa Uzan, O Tarta-Arsene, Dániel Fabó, Péter Barsi, Pieter van Eijsden, Reetta Kälviäinen, Beate Diehl, Pål G. Larsson, Baris Metin, Geertjan Huiskamp, Julia Scholly, Dana Craiu, Margitta Seeck, Kristina Malmgren, Ruta Mameniskiene, Markus Leitinger, Pavel Krsek
Publikováno v:
Epilepsia, Vol. 57, No 5 (2016) pp. 770-776
Epilepsia, 57(5), 770. Wiley-Blackwell
Epilepsia, 57(5), 770. Wiley-Blackwell
OBJECTIVE: In 2014 the European Union-funded E-PILEPSY project was launched to improve awareness of, and accessibility to, epilepsy surgery across Europe. We aimed to investigate the current use of neuroimaging, electromagnetic source localization, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cada4b634467b695da7086552c1c89b4
https://archive-ouverte.unige.ch/unige:99748
https://archive-ouverte.unige.ch/unige:99748
Publikováno v:
European Journal of Paediatric Neurology. 21:e211
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::40c0f482d3cb68f5098ab7b156f7a1ca
https://doi.org/10.1016/j.ejpn.2017.04.1101
https://doi.org/10.1016/j.ejpn.2017.04.1101
Autor:
Catrinel Iliescu, I. Minciu, C. Pomeran, M.G. Lascu, D Barca, O Tarta-Arsene, Dana Craiu, S. Magureanu, Carmen Sandu
Publikováno v:
European Journal of Paediatric Neurology. 21:e183
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4278628337dffbe51bdf1b0da758d8fb
https://doi.org/10.1016/j.ejpn.2017.04.726
https://doi.org/10.1016/j.ejpn.2017.04.726
Publikováno v:
European Journal of Paediatric Neurology. 21:e195
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8e3975404327d082738271f0db606926
https://doi.org/10.1016/j.ejpn.2017.04.843
https://doi.org/10.1016/j.ejpn.2017.04.843
Autor:
Catrinel Iliescu, Alice Dica, C. Burloiu, C. Pomeran, Dana Craiu, L. Robanescu, Magdalena Budisteanu, Carmen Sandu, I. Minciu, N. Butoianu, D. Zamfirescu, D Barca, R. Gherghiceanu, O Tarta-Arsene
Publikováno v:
European Journal of Paediatric Neurology. 19:S132-S133
Objective The aim of this poster is to analyze the cohort of patients with NBPP followed in the Pediatric Neurology Department, to identify specific clinical signs, investigations, outcome and to establish a protocol of diagnosis and follow-up for ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5a5075a9359d80f5c04e21bc8423ffab
https://doi.org/10.1016/s1090-3798(15)30451-7
https://doi.org/10.1016/s1090-3798(15)30451-7