Zobrazeno 1 - 10
of 25
pro vyhledávání: '"MEIRLEIR, LINDA DE"'
Autor:
Verpoorten, Nathalie, Claeys, Kristl G., Deprez, Liesbet, Jacobs, An, Gerwen, Veerle Van, Lagae, Lieven, Arts, Willem Frans, Meirleir, Linda De, Keymolen, Kathelijn, Groote, Chantal Ceuterick-de, Jonghe, Peter De, Timmerman, Vincent, Nelis, Eva
Publikováno v:
In Neuromuscular Disorders January 2006 16(1):19-25
Autor:
Verhelst, Helene *, Boon, Paul, Buyse, Gunnar, Ceulemans, Berten, D’Hooghe, Marc, Meirleir, Linda De, Hasaerts, Danièle, Jansen, An, Lagae, Lieven, Meurs, Alfred, Coster, Rudy Van, Vonck, Kristl
Publikováno v:
In Seizure: European Journal of Epilepsy 2005 14(6):412-421
Autor:
Meulemans, Ann, Lissens, Willy, Coster, Rudy Van, Meirleir, Linda De, Smet, Joél, Nassogne, Marie-Cécile, Liebaers, Inge, Seneca, Sara *
Publikováno v:
In European Journal of Paediatric Neurology 2004 8(6):299-306
Autor:
Maas, Roeltje R, Iwanicka-Pronicka, Katarzyna, Kalkan-Ucar, Sema, Alhaddad, Bader, AlSayed, Moeenaldeen, Al-Owain, Mohammed, Al-Zaidan, Hamad I, Balasubramaniam, Shanti, Barić, Ivo, Bubshait, Dalal K, Burlina, Alberto, Christodoulou, John, Chung, Wendy K., Colombo, Roberto, Darin, Niklas, Freisinger, Peter, Garcia Silva, Maria Teresa, Grunewald, Stephanie, Haack, Tobias B., van Hasselt, Peter M, Hikmat, Omar, Hörster, Friederike, Isohanni, Pirjo, Ramzan, Khushnooda, Kovacs-Nagy, Reka, Krumina, Zita, Martin-Hernandez, Elena, Mayr, Johannes A, McClean, Patricia, Meirleir, Linda De, Naess, Karin, Ngu, Lock H, Pajdowska, Magdalena, Rahman, Shamima, Riordan, Gillian, Riley, Lisa, Roeben, Benjamin, Rutsch, Frank, Santer, Rene, Schiff, Manuel, Seders, Martine, Sequeira, Silvia, Sperl, Wolfgang, Staufner, Christian, Synofzik, Matthis, Taylor, Robert W, Trubicka, Joanna, Tsiakas, Konstantinos, Unal, Ozlem, Wassmer, Evangeline, Wedatilake, Yehani, Wolff, Toni, Prokisch, Holger, Morava, Eva, Pronicka, Ewa, Wevers, Ron A., de Brouwer, Arjan P M, Wortmann, Saskia B.
Publikováno v:
Annals of neurology 82(6), 1004-1015 (2017). doi:10.1002/ana.25110
Annals of Neurology, 82(6), 1004. John Wiley and Sons Inc.
Annals of Neurology
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Annals of Neurology, 82(6), 1004. John Wiley and Sons Inc.
Annals of Neurology
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
WOS: 000418389700017
PubMed ID: 29205472
Objective3-Methylglutaconic aciduria, dystonia-deafness, hepatopathy, encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1. MethodsThis multicenter study a
PubMed ID: 29205472
Objective3-Methylglutaconic aciduria, dystonia-deafness, hepatopathy, encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1. MethodsThis multicenter study a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::4770ccdc3a1dd337cef1e1d530592617
https://hdl.handle.net/10668/11876
https://hdl.handle.net/10668/11876
Autor:
Sofou, Kalliopi, De Coo, Irenaeus F. M., Isohanni, Pirjo, Ostergaard, Elsebet, Naess, Karin, Meirleir, Linda De, Tzoulis, Charalampos, Uusimaa, Johanna, De Angst, Isabell B., Lönnqvist, Tuula, Pihko, Helena, Mankinen, Katariina, Bindoff, Laurence A., Tulinius, Már, Darin, Niklas
Publikováno v:
Orphanet Journal of Rare Diseases; 2014, Vol. 9 Issue 1, p3-31, 29p
Autor:
Seneca, Sara, Meirleir, Linda De, Scbepper, Jean De, Balduck, Nadine, Jochmans, Kristin, Liebaers, Inge, Lissens, Willy
Publikováno v:
Clinical Genetics; May1997, Vol. 51 Issue 5, p338-342, 5p
Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene
Autor:
Meirleir, Linda De, Seneca, Sara, Damis, Eliane, Sepulchre, Brigitte, Hoorens, Anne, Gerlo, Erik, Silva, M. Teres García, Hernandez, Elena Martín, Lissens, Willy, Coster, Rudy Van
Publikováno v:
American Journal of Medical Genetics. Part A; 30 August 2003, Vol. 121 Issue: 2 p126-131, 6p
Autor:
BONNE, GISÈLE, BENELLI, CHANTAL, MEIRLEIR, LINDA DE, LISSENS, WILLY, CHAUSSAIN, MICHÈLE, DIRY, MONIQUE, CLOT, JEAN-PIERRE, PONSOT, GERARD, GEOFFROY, VALERIE, LEROUX, JEAN-PAUL, MARSAC, CÉCILE
Publikováno v:
Pediatric Research (Ovid); March 1993, Vol. 33 Issue: 3 p284-287, 4p
Autor:
Repp, Birgit, Mastantuono, Elisa, Alston, Charlotte, Schiff, Manuel, Haack, Tobias, RÜtig, Agnes, Ardissone, Anna, LombèS, Anne, Catarino, Claudia, Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert, Wittig, Ilka, Scurr, Ingrid, Irenaeus De Coo, Moroni, Isabella, JoÊl Smet, Mayr, Johannes, Lifang Dai, Meirleir, Linda De, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael, McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim, Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Marie-Cecile Nassogne, Ling, Han, Fang, Fang, Freisinger, Peter, Coster, Rudy Van, Strecker, Valentina, Taylor, Robert, HäBerle, Johannes, Vockley, Jerry, Prokisch, Holger, Wortmann, Saskia
Table S2. Calculation of European incidence of ACAD9 deficiency (DOCX 36Â kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a43753e841baae9cafaa279cdbe916f0