Search Results - Linda De Meırleır

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  1. 1
    Prevalence and impact on FEV1 decline of chronic methicillin-resistant Staphylococcus aureus (MRSA) colonization in patients with Cystic Fibrosis

    Prevalence and impact on FEV1 decline of chronic methicillin-resistant Staphylococcus aureus (MRSA) colonization in patients with Cystic Fibrosis by Eef Vanderhelst, Linda De Meırleır, Sylvia Verbanck, Denis Piérard, Walter Vincken, Anne Malfroot

    Published 2011
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  2. 2
    Isolation of a full-length complementary DNA coding for human E1 alpha subunit of the pyruvate dehydrogenase complex.

    Isolation of a full-length complementary DNA coding for human E1 alpha subunit of the pyruvate dehydrogenase complex. by Linda De Meırleır, N. MacKay, A M Lam Hon Wah, B. H. Robinson

    Published 1988
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  3. 3
    Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

    Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12 by Linda De Meırleır, Sara Seneca, Willy Lissens, Inge De Clercq, François Eyskens, E. Gerlo, Joél Smet, Rudy Van Coster

    Published 2004
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  4. 4
    Mutation of a potassium channel–related gene in progressive myoclonic epilepsy

    Mutation of a potassium channel–related gene in progressive myoclonic epilepsy by Patrick Van Bogaert, Régis Azizieh, Julie Désir, Alec Aeby, Linda De Meırleır, Jean‐François Laes, Florence Christiaens, Marc Abramowicz

    Published 2007
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  5. 5
    Treatment and long term outcome in West syndrome: The clinical reality. A multicentre follow up study

    Treatment and long term outcome in West syndrome: The clinical reality. A multicentre follow up study by Lieven Lagae, Hélène Verhelst, Berten Ceulemans, Linda De Meırleır, Marie‐Cécile Nassogne, V. de Borchgrave, Marc D’Hooghe, Martine Foulon, Patrick Van Bogaert

    Published 2010
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  6. 6
    A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia

    A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia by Éva Morava, Renate Zeevaert, Eckhard Korsch, Karin Huijben, Suzan Wopereis, Gert Matthijs, Kathelijn Keymolen, Dirk J. Lefeber, Linda De Meırleır, Ron A. Wevers

    Published 2007
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  7. 7
    Mutations in <i>PEX10</i> are a cause of autosomal recessive ataxia

    Mutations in <i>PEX10</i> are a cause of autosomal recessive ataxia by Luc Régal, Merel S. Ebberink, Nathalie Goemans, Ronald J. A. Wanders, Linda De Meırleır, Jacques Jaeken, Maarten Schrooten, Rudy Van Coster, Hans R. Waterham

    Published 2010
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  8. 8
    Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

    Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy by J. E. Wraith, Maurizio Scarpa, Michael Beck, Olaf A. Bodamer, Linda De Meırleır, Nathalie Guffon, Allan M. Lund, Gunilla Malm, Ans T. van der Ploeg, J Zeman

    Published 2007
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  9. 9
    Steroids in intractable childhood epilepsy: Clinical experience and review of the literature

    Steroids in intractable childhood epilepsy: Clinical experience and review of the literature by Helene Verhelst, Paul Boon, Gunnar Buyse, Berten Ceulemans, Marc D’Hooghe, Linda De Meırleır, Danièle Hasaerts, Anna Jansen, Lieven Lagae, Alfred Meurs, Rudy Van Coster, Kristl Vonck

    Published 2005
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  10. 10
    Blue Native Polyacrylamide Gel Electrophoresis: A Powerful Tool in Diagnosis of Oxidative Phosphorylation Defects

    Blue Native Polyacrylamide Gel Electrophoresis: A Powerful Tool in Diagnosis of Oxidative Phosphorylation Defects by Rudy Van Coster, Joél Smet, Edith George, Linda De Meırleır, Sara Seneca, Johan Van Hove, Guillaume Sébire, Hélène Verhelst, Jan De Bleecker, Bruno Van Vlem, Patrick Verloo, Jules G. Leroy

    Published 2001
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  11. 11
    Mutations in the X-linked pyruvate dehydrogenase (E1) ? subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency

    Mutations in the X-linked pyruvate dehydrogenase (E1) ? subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency by Willy Lissens, Linda De Meırleır, Sara Seneca, Inge Liebaers, Garry K. Brown, Ruth M. Brown, Michinori Ito, Etsuo Naito, Yasuhiro Kuroda, Douglas S. Kerr, Isaiah D. Wexler, Mulchand S. Patel, Brian H. Robinson, Agnieszka Seyda

    Published 2000
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  12. 12
    Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation

    Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation by Éva Morava, Dirk J. Lefeber, Zsolt Urbán, Linda De Meırleır, Peter Meinecke, G. Gillessen Kaesbach, Jolanta Sykut‐Cegielska, Michael S. Adamowicz, Ira S. Salafsky, Judith D. Ranells, Emmanuelle Lemyre, Jeroen van Reeuwijk, Han G. Brunner, Ron A. Wevers

    Published 2007
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  13. 13
    Two Siblings with Homozygous Pathogenic Splice-Site Variant in Mitochondrial Asparaginyl-tRNA Synthetase (<i>NARS2</i>)

    Two Siblings with Homozygous Pathogenic Splice-Site Variant in Mitochondrial Asparaginyl-tRNA Synthetase (<i>NARS2</i>) by Arnaud Vanlander, Björn Menten, Joél Smet, Linda De Meırleır, Tom Sante, Boél De Paepe, Sara Seneca, Sarah F. Pearce, Christopher A. Powell, Sarah Vergult, Alex Michotte, Elien De Latter, Lies Vantomme, Michal Minczuk, Rudy Van Coster

    Published 2014
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  14. 14
    A multicenter study on Leigh syndrome: disease course and predictors of survival

    A multicenter study on Leigh syndrome: disease course and predictors of survival by Kalliopi Sofou, I.F.M. de Coo, Pirjo Isohanni, Elsebet Østergaard, K Naess, Linda De Meırleır, Charalampos Tzoulis, Johanna Uusimaa, Isabell B De Angst, Tuula Lönnqvist, Helena Pihko, Katariina Mankinen, Laurence A. Bindoff, M. Tulinius, Niklas Darín

    Published 2014
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  15. 15
    Efficacy and safety of Velmanase alfa in the treatment of patients with alpha‐mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double‐blind, randomised, placebo‐controlled trial

    Efficacy and safety of Velmanase alfa in the treatment of patients with alpha‐mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double‐bl... by Line Borgwardt, Nathalie Guffon, Yasmina Amraoui, Christine í Dali, Linda De Meırleır, Mercedes Gil‐Campos, Bénédicte Héron, Silvia Geraci, Diego Ardigò, Federica Cattaneo, J. Fogh, J. M. Hannerieke Van den Hout, Michael Beck, Simon Jones, Anna Tylki‐Szymańska, Ulla Haugsted, Allan M. Lund

    Published 2018
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  16. 16
    LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

    LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood by Caroline Michot, Laurence Hubert, Michèle Brivet, Linda De Meırleır, Vassili Valayannopoulos, Wolfgang Müller‐Felber, Venkateswaran Ramesh, Hélène Ogier, Isabelle Desguerre, Cécilia Altuzarra, Elizabeth Thompson, Martin Smitka, Angela Huebner, Marie Husson, Rita Horváth, Patrick F. Chinnery, Frédéric M. Vaz, Arnold Münnich, Orly Elpeleg, Agnès Delahodde, Yves de Keyzer, Pascale de Lonlay

    Published 2010
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  17. 17
    Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

    Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential no... by Susana G. Kalko, Sonia Paco, Cristina Jou, Maria Angels Rodríguez, Marija Meznarič, Mihael Rogač, Maja Jekovec‐Vrhovsěk, Monica Sciacco, Maurizio Moggio, Gigliola Fagiolari, Boél De Paepe, Linda De Meırleır, Isidró Ferrer, Manel Roig-Quilis, Francina Munell, Julio Montoya, Ester López‐Gallardo, Eduardo Ruiz‐Pesini, Rafael Artuch, Raquel Montero, Ferrán Torner, A. Nascimento, C. Ortez, J. Colomer, C. Jimenez‐Mallebrera

    Published 2014
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  18. 18
    Comprehensive long‐term efficacy and safety of recombinant human alpha‐mannosidase (velmanase alfa) treatment in patients with alpha‐mannosidosis

    Comprehensive long‐term efficacy and safety of recombinant human alpha‐mannosidase (velmanase alfa) treatment in patients with alpha‐mannosidosis by Allan M. Lund, Line Borgwardt, Federica Cattaneo, Diego Ardigò, Silvia Geraci, Mercedes Gil‐Campos, Linda De Meırleır, Cécile Laroche, Philippe Dolhem, Duncan Cole, Anna Tylki‐Szymańska, M. López Rodríguez, Encarna Guillén‐Navarro, Christine í Dali, Bénédicte Héron, J. Fogh, Nicole Muschol, Dawn Phillips, J. M. Hannerieke Van den Hout, Simon Jones, Yasmina Amraoui, Paul Harmatz, Nathalie Guffon

    Published 2018
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  19. 19
    Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

    Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease by Maurizio Scarpa, Zsuzsanna Almássy, Michael Beck, Olaf A. Bodamer, Iain Bruce, Linda De Meırleır, Nathalie Guffon, Encarna Guillén‐Navarro, Pauline Hensman, Simon Jones, Wolfgang Kamin, Christoph Kampmann, Christina Lampe, Christine Lavery, Elisa Leão Teles, Bianca Link, Allan M. Lund, Gunilla Malm, Susanne Pitz, Michael Rothera, Catherine Stewart, Anna Tylki‐Szymańska, Ans van der Ploeg, Robert Walker, J Zeman, J. E. Wraith

    Published 2011
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  20. 20
    Congenital mirror movements

    Congenital mirror movements by Aurélie Méneret, Christel Depienne, Florence Riant, Oriane Trouillard, Delphine Bouteiller, M. Cincotta, Pierre Bitoun, Julia Wickert, Lagroua Isabelle, Ana Westenberger, Alessandra Borgheresi, Diane Doummar, Marcello Romano, Símone Rossi, Luc Defebvre, Linda De Meırleır, Alberto J. Espay, Simona Fiori, Stephan Klebe, Chloé Quēlin, Sabine Rudnik–Schöneborn, Ghislaine Plessis, Russell C. Dale, Susan Sklower Brooks, Karolina Dzieżyc, Pierre Pollak, Jean‐Louis Golmard, Marie Vidailhet, Alexis Brice, Emmanuel Roze

    Published 2014
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