Zobrazeno 1 - 10
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pro vyhledávání: '"BUTOIANU, Niculina"'
Akademický článek
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Autor:
Bauché, Stéphanie 1, O’Regan, Seana 2, Azuma, Yoshiteru 3, Laffargue, Fanny 4, McMacken, Grace 3, Sternberg, Damien 1, 5, Brochier, Guy 5, 6, Buon, Céline 1, Bouzidi, Nassima 1, Topf, Ana 3, Lacène, Emmanuelle 5, 6, Remerand, Ganaelle 7, Beaufrere, Anne-Marie 8, Pebrel-Richard, Céline 9, Thevenon, Julien 10, 11, El Chehadeh-Djebbar, Salima 12, Faivre, Laurence 10, 11, Duffourd, Yannis 10, Ricci, Federica 13, Mongini, Tiziana 13, Fiorillo, Chiara 14, Astrea, Guja 15, Burloiu, Carmen Magdalena 16, Butoianu, Niculina 16, Sandu, Carmen 16, Servais, Laurent 17, Bonne, Gisèle 17, Nelson, Isabelle 17, Desguerre, Isabelle 18, Nougues, Marie-Christine 19, Bœuf, Benoit 20, Romero, Norma 6, Laporte, Jocelyn 21, 22, Boland, Anne 23, Lechner, Doris 23, Deleuze, Jean-François 23, Fontaine, Bertrand 1, 5, Strochlic, Laure 1, Lochmuller, Hanns 3, Eymard, Bruno 1, 5, 17, Mayer, Michèle 19, Nicole, Sophie 1, ∗
Publikováno v:
In The American Journal of Human Genetics 1 September 2016 99(3):753-761
Autor:
BARCA, Diana, TARTA-ARSENE, Oana, DICA, Alice, ILIESCU, Catrinel, BUDISTEANU, Magdalena, MOTOESCU, Cristina, BUTOIANU, Niculina, CRAIU, Dana
Down Syndrome (DS) is the most common genetic cause of mental retardation, with a reported frequency of epilepsy between 1.4-17% (1). There is a paucity of data in the literature regarding epilepsy in Down syndrome and its relation to intellectual di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::102d632bd9e263a919dfa22ea95df7d5
https://europepmc.org/articles/PMC4316878/
https://europepmc.org/articles/PMC4316878/
Autor:
Bladen, Catherine, Thompson, Rachel, Jackson, Jacqueline M, Garland, Connie, Wegel, Claire, Ambrosini, Anna, Pisano, Paolo, Walter, Maggie C, Schreiber, Olivia, Lusakowska, Anna, Jedrzejowska, Maria, Kostera-Pruszczyk, Anna, van der Pol, Ludo, Wadman, Renske I, Gredal, Ole, Karaduman, Ayse, Topaloglu, Haluk, Yilmaz, Öznur, Matyushenko, Vitaliy, Rasic, Vedrana Milic, Kosac, Ana, Karcagi, Veronika, Garami, Marta, Herczegfalvi, Agnes, Monges, Soledad, Moresco, Angelica, Chertkoff, Lilien, Chamova, Teodora, Guergueltcheva, Velina, Butoianu, Niculina, Craiu, Dana, Korngut, Lawrence, Campbell, Craig, Haberlova, Jan, Strenkova, Jan, Alejandro, Moises, Jimenez, Alatorre, Ortiz, Genaro Gabriel, Enriquez, Gracia Viviana Gonzalez, Rodrigues, Miriam, Roxburgh, Richard, Dawkins, Hugh, Youngs, Leanne, Lahdetie, Jaana, Angelkova, Natalija, Saugier-Veber, Pascal, Cuisset, Jean-Marie, Bloetzer, Clemens, Jeannet, Pierre-Yves, Klein, Andrea, Nascimento, Andres, Tizzano, Eduardo, Salgado, David, Mercuri, Eugenio, Sejersen, Thomas, Kirschner, Jan, Rafferty, Karen, Straub, Volker, Bushby, Kate, Verschuuren, Jan, Béroud, Christophe, Lochmuller, Hanns, Jackson, Jacqueline M., Walter, Maggie C., Wadman, Renske I.
Publikováno v:
Journal of Neurology
Journal of Neurology, Springer Verlag, 2014, 261 (1), pp.152-163. ⟨10.1007/s00415-013-7154-1⟩
Journal of Neurology, 2014, 261 (1), pp.152-163. ⟨10.1007/s00415-013-7154-1⟩
JOURNAL OF NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Journal of Neurology, 261(1), 152-163
Journal of Neurology, Springer Verlag, 2014, 261 (1), pp.152-163. ⟨10.1007/s00415-013-7154-1⟩
Journal of Neurology, 2014, 261 (1), pp.152-163. ⟨10.1007/s00415-013-7154-1⟩
JOURNAL OF NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Journal of Neurology, 261(1), 152-163
International audience; Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterised by the degeneration of motor neurons and progressive muscle weakness. It is caused by homozygous deletions in the survival motor neuron gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0b9b41cc67d1e4d609dfcdac172f0bc
https://hal-amu.archives-ouvertes.fr/hal-01681799
https://hal-amu.archives-ouvertes.fr/hal-01681799
Autor:
Bladen, Catherine, Rafferty, Karen, Straub, Volker, Monges, Soledad, Moresco, Angélica, Dawkins, Hugh, Roy, Anna, Chamova, Teodora, Guergueltcheva, Velina, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Barišić, Nina, Kos, Tea, Brabec, Petr, Rahbek, Jes, Lahdetie, Jaana, Tuffery-Giraud, Sylvie, Claustres, Mireille, Leturcq, France, Ben Yaou, Rabah, Walter, Maggie C, Schreiber, Olivia, Karcagi, Veronika, Herczegfalvi, Agnes, Viswanathan, Venkatarman, Bayat, Farhad, de La Caridad Guerrero Sarmiento, Isis, Ambrosini, Anna, Ceradini, Francesc, Kimura, En, van den Bergen, Jan, Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Oliveira, Jorge, Santos, Rosário, Neagu, Elena, Butoianu, Niculina, Artemieva, Svetlana, Rasic, Vedrana Milic, Posada, Manuel, Palau, Francesc, Lindvall, Björn, Bloetzer, Clemens, Karaduman, Ayşe, Topaloğlu, Haluk, Inal, Serap, Oflazer, Piraye, Stringer, Angela, Shatillo, Andriy V, Martin, Ann S, Peay, Holly, Flanigan, Kevin M, Salgado, David, von Rekowski, Brigitta, Lynn, Stephen, Heslop, Emma, Gainotti, Sabina, Taruscio, Domenica, Kirschner, Jan, Verschuuren, Jan, Bushby, Kate, Béroud, Christophe, Lochmuller, Hanns, Roy, Hugh, Tuffery-Giraud, France, Claustres, France, Walter, Maggie C., Shatillo, Andriy V., Martin, Ann S., Flanigan, Kevin M.
Publikováno v:
Human Mutation, 34(11), 1449-1457
HUMAN MUTATION
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Human Mutation
Human Mutation, 2013, 34 (11), pp.1449-1457. ⟨10.1002/humu.22390⟩
Human Mutation, Wiley, 2013, 34 (11), pp.1449-1457. ⟨10.1002/humu.22390⟩
HUMAN MUTATION
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Human Mutation
Human Mutation, 2013, 34 (11), pp.1449-1457. ⟨10.1002/humu.22390⟩
Human Mutation, Wiley, 2013, 34 (11), pp.1449-1457. ⟨10.1002/humu.22390⟩
International audience; Duchenne muscular dystrophy (DMD) is an X-linked genetic disease, caused by the absence of the dystrophin protein. Although many novel therapies are under development for DMD, there is currently no cure and affected individual
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c2647260e6ae2f3061809a1dc3d0113
http://hdl.handle.net/1887/100815
http://hdl.handle.net/1887/100815
Publikováno v:
In European Journal of Paediatric Neurology June 2017 21 Supplement 1:e196-e196
Autor:
Dana, Surlica 1, Sandu, Carmen 1, Mavrodin, Diana 2, Butoianu, Niculina 1, Iliescu, Catrinel 1, Barca, Diana 1, Budisteanu, Magdalena 1, Burloiu, Carmen 1, Craiu, Dana 1
Publikováno v:
In European Journal of Paediatric Neurology June 2017 21 Supplement 1:e27-e28
Publikováno v:
Journal of Immunoassay & Immunochemistry; 2017, Vol. 38 Issue 2, p115-126, 12p
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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