Zobrazeno 1 - 10
of 42
pro vyhledávání: '"C. Burloiu"'
Autor:
Cristina Rusu, Selma Dounia Bensemmane, Mingyan Fang, Magdalena Sandu, Lyudmilla Angelova, Marcella Neri, Veneta Bojinova, Jadranka Sekelj Fureš, Fernanda Fortunato, Ivan Litvinenko, Maria Judith Molnar, Anna Potulska-Chromik, Oussama Dendane, C. Burloiu, Samira Makri-Mokrane, Daniela Vasile, Monica Panzaru, Zhiyuan Lu, Yamina Sifi, Niculina Butoianu, Oana Alexandra Iuhas, Birute Burnyte, Butnariu Lacramioara, Rachele Rossi, Djawed Bouchenak Khelladi, Ivan Lehman, Cecilia Trabanelli, Velina Guergueltcheva, Mariela Militaru, Léna Szabó, Anna Lusakowska, Mihaela Vintan, Sanja Delin, Monica Mager, Anna Kostera-Pruszczyk, Gabriela Visa, Agnes Herczegfalvi, Yurtsever Vildan, Andriy V. Shatillo, Dmitry Vlodavets, Balint Fekete, Adela Chirita Emandi, Rita Selvatici, Ivan S. Ivanov, Francesca Gualandi, Alessandra Ferlini, Alice Margutti, Diana Epure, Theodore Kyriakides
Publikováno v:
Neurology Genetics
Neurology genetics, Philadelphia : Lippincot Williams & Wilkins, 2021, vol. 7, iss. 1, art. no. e536, p. [1-12]
Neurology: Genetics
article-version (Version of Record) 3
Neurology genetics, Philadelphia : Lippincot Williams & Wilkins, 2021, vol. 7, iss. 1, art. no. e536, p. [1-12]
Neurology: Genetics
article-version (Version of Record) 3
ObjectiveGenetic diagnosis and mutation identification are now compulsory for Duchenne (DMD) and Becker muscular dystrophies (BMD), which are due to dystrophin (DMD) gene mutations, either for disease prevention or personalized therapies. To evaluate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26d68b8b9b14e4902793ab448668394d
https://www.bib.irb.hr/1113042
https://www.bib.irb.hr/1113042
Autor:
Seana O'Regan, Tiziana Mongini, Céline Buon, Anne Marie Beaufrere, Yoshiteru Azuma, Bertrand Fontaine, Hanns Lochmüller, S. Bauche, Ana Töpf, Chiara Fiorillo, Jean-François Deleuze, E. Lacène, Julien Thevenon, Gisèle Bonne, Damien Sternberg, C. Burloiu, Yannis Duffourd, Isabelle Desguerre, Isabelle Nelson, Guy Brochier, Anne Boland, Benoit Bœuf, Michèle Mayer, Laure Strochlic, Jocelyn Laporte, Laurence Faivre, Sophie Nicole, Ganaelle Remerand, Céline Pebrel-Richard, Laurent Servais, Federica Ricci, Guja Astrea, Doris Lechner, Salima El Chehadeh-Djebbar, Nassima Bouzidi, Fanny Laffargue, Bruno Eymard, Marie Christine Nougues, Norma B. Romero, Grace McMacken, Carmen Sandu, Niculina Butoianu
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, 2016, 99 (3), pp.753-761. ⟨10.1016/j.ajhg.2016.06.033⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 99 (3), pp.753-761. ⟨10.1016/j.ajhg.2016.06.033⟩
American Journal of Human Genetics, 2016, 99 (3), pp.753-761. ⟨10.1016/j.ajhg.2016.06.033⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 99 (3), pp.753-761. ⟨10.1016/j.ajhg.2016.06.033⟩
International audience; The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMS5), a clinically and genetically heterogeneous g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b7aaebb223eac493cf088535a38db5c
https://hal.science/hal-03993840
https://hal.science/hal-03993840
Publikováno v:
Journal of the Neurological Sciences. 381:381-382
Autor:
Carmen Sandu, Catrinel Iliescu, Dana Craiu, Surlica Dana, C. Burloiu, Diana Mavrodin, D Barca, Niculina Butoianu, Magdalena Budisteanu
Publikováno v:
European Journal of Paediatric Neurology. 21:e27-e28
Publikováno v:
European Journal of Paediatric Neurology. 21:e196
Publikováno v:
European Journal of Paediatric Neurology. 21:e211
Autor:
Alina Mitel, C. Burloiu
Publikováno v:
European Journal of Paediatric Neurology. 21:e44
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
Akademický článek
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Autor:
O Tarta-Arsene, N. Butoianu, Dana Craiu, Catrinel Iliescu, Magdalena Budisteanu, I. Minciu, D Barca, C. Burloiu, C Motoescu
Publikováno v:
European Journal of Paediatric Neurology. 17:S28-S29