학술논문
'학술논문'
에서 검색결과 41건 | 목록
1~10
Academic Journal
Altassan, Ruqaiah; Péanne, Romain; Jaeken, Jaak; Barone, Rita; Bidet, Muad; Borgel, Delphine; Brasil, Sandra; Cassiman, David; Cechova, Anna; Coman, David; Corral, Javier; Correia, Joana; de la Morena‐Barrio, María Eugenia; de Lonlay, Pascale; Dos Reis, Vanessa; Ferreira, Carlos R; Fiumara, Agata; Francisco, Rita; Freeze, Hudson; Funke, Simone
Journal of Inherited Metabolic Disease; Jan2019, Vol. 42 Issue 1, p5-28, 24p
Academic Journal
Fabien Lonjon; David Lohou; Anne-Claire Cazalé; Daniela Büttner; Barbara Gomes Ribeiro; Claire Péanne; Stéphane Genin; Fabienne Vailleau
Scientific Reports, Vol 7, Iss 1, Pp 1-14 (2017)
Academic Journal
Blommaert, E.; Péanne, R.; Race, V.; Keldermans, L.; Souche, E.; Corveleyn, A.; Matthijs, G.; Cherepanova, N.A.; Gilmore, R.; Rymen, D.; Staels, F.; Schrijvers, R.; Jaeken, J.; Sparkes, R.; Bhattacharya, K.; Devalck, C.; Foulquier, F.
In: Proceedings of the National Academy of Sciences of the United States of America . (Proceedings of the National Academy of Sciences of the United States of America, 14 May 2019, 116(20):9865-9870)
Academic Journal
Duvet, S.; Mouajjah, D.; Foulquier, F.; Péanne, R.; Matthijs, G.; Raymond, K.; Jaeken, J.; Morava, E.
In: Electrophoresis . (Electrophoresis, December 2018, 39(24):3133-3141)
Academic Journal
Rujano, M.A.; Serio, M.C.; Hauser, V.; Guida, M.C.; Simons, M.; Panasyuk, G.; Péanne, R.; Rymen, D.; Souche, E.; Matthijs, G.; Reunert, J.; Park, J.H.; Marquardt, T.; Freisinger, P.; Maier, E.M.; Wada, Y.; Jäger, S.; Krogan, N.J.; Kretz, O.; Nobre, S.; Garcia, P.; Quelhas, D.; Bird, T.D.; Raskind, W.H.; Schwake, M.; Duvet, S.; Foulquier, F.
In: Journal of Experimental Medicine . (Journal of Experimental Medicine, 1 December 2017, 214(12):3707-3729)
Academic Journal
Potelle S; CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, Université de Lille, Lille F-59000, France and the LIA GLYCOLAB4CDG France/ Belgium (International Associated Laboratory 'Laboratory for the Research on Congenital Disorders of Glycosylation - from cellular mechanisms to cure').; Dulary E; CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, Université de Lille, Lille F-59000, France and the LIA GLYCOLAB4CDG France/ Belgium (International Associated Laboratory 'Laboratory for the Research on Congenital Disorders of Glycosylation - from cellular mechanisms to cure').; Climer L; Department of Physiology and Biophysics, College of Medicine, University of Arkansas for Medical Sciences, Biomed 261-2, Slot 505, 200 South Cedar St., Little Rock, AR 72205, U.S.A.; Duvet S; CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, Université de Lille, Lille F-59000, France and the LIA GLYCOLAB4CDG France/ Belgium (International Associated Laboratory 'Laboratory for the Research on Congenital Disorders of Glycosylation - from cellular mechanisms to cure').; Morelle W; CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, Université de Lille, Lille F-59000, France and the LIA GLYCOLAB4CDG France/ Belgium (International Associated Laboratory 'Laboratory for the Research on Congenital Disorders of Glycosylation - from cellular mechanisms to cure').; Vicogne D; CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, Université de Lille, Lille F-59000, France and the LIA GLYCOLAB4CDG France/ Belgium (International Associated Laboratory 'Laboratory for the Research on Congenital Disorders of Glycosylation - from cellular mechanisms to cure').; Lebredonchel E; CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, Université de Lille, Lille F-59000, France and the LIA GLYCOLAB4CDG France/ Belgium (International Associated Laboratory 'Laboratory for the Research on Congenital Disorders of Glycosylation - from cellular mechanisms to cure').; Centre de Biologie et Pathologies, UAM de glycopathologies, CHRU de Lille, University of Lille, 59000 France.; Houdou M; CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, Université de Lille, Lille F-59000, France and the LIA GLYCOLAB4CDG France/ Belgium (International Associated Laboratory 'Laboratory for the Research on Congenital Disorders of Glycosylation - from cellular mechanisms to cure').; Spriet C; CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, Université de Lille, Lille F-59000, France and the LIA GLYCOLAB4CDG France/ Belgium (International Associated Laboratory 'Laboratory for the Research on Congenital Disorders of Glycosylation - from cellular mechanisms to cure').; Krzewinski-Recchi MA; CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, Université de Lille, Lille F-59000, France and the LIA GLYCOLAB4CDG France/ Belgium (International Associated Laboratory 'Laboratory for the Research on Congenital Disorders of Glycosylation - from cellular mechanisms to cure').; Peanne R; Center for Human Genetics, KU Leuven, Leuven, Belgium.; Klein A; CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, Université de Lille, Lille F-59000, France and the LIA GLYCOLAB4CDG France/ Belgium (International Associated Laboratory 'Laboratory for the Research on Congenital Disorders of Glycosylation - from cellular mechanisms to cure').; Centre de Biologie et Pathologies, UAM de glycopathologies, CHRU de Lille, University of Lille, 59000 France.; de Bettignies G; CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, Université de Lille, Lille F-59000, France and the LIA GLYCOLAB4CDG France/ Belgium (International Associated Laboratory 'Laboratory for the Research on Congenital Disorders of Glycosylation - from cellular mechanisms to cure').; Morsomme P; Institut des Sciences de la Vie, Université catholique de Louvain, Louvain-la-Neuve B-1348, Belgium.; Matthijs G; Center for Human Genetics, KU Leuven, Leuven, Belgium.; Marquardt T; Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, Gebäude A 1, Münster 48149, Germany.; Lupashin V; Department of Physiology and Biophysics, College of Medicine, University of Arkansas for Medical Sciences, Biomed 261-2, Slot 505, 200 South Cedar St., Little Rock, AR 72205, U.S.A.; Foulquier F; CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, Université de Lille, Lille F-59000, France and the LIA GLYCOLAB4CDG France/ Belgium (International Associated Laboratory 'Laboratory for the Research on Congenital Disorders of Glycosylation - from cellular mechanisms to cure') francois.foulquier@univ-lille1.fr.
Publisher: Published by Portland Press on behalf of the Biochemical Society Country of Publication: England NLM ID: 2984726R Publication Model: Electronic Cited Medium: Internet ISSN: 1470-8728 (Electronic) Linking ISSN: 02646021 NLM ISO Abbreviation: Biochem J Subsets: MEDLINE
Academic Journal
Blommaert, E.; Peanne, R.; Cherepanova, N. A.; Rymen, D.; Jaeken, J.; Schrijvers, R.; Foulquier, F.; Gilmore, R.; Matthijs, G.
Academic Journal
Vleugels W; Laboratory for Molecular Diagnosis, Center for Human Genetics, University of Leuven, B-3000 Leuven, Belgium.; Duvet S; Peanne R; Mir AM; Cacan R; Michalski JC; Matthijs G; Foulquier F
Publisher: Editions Scientifiques Elsevier Country of Publication: France NLM ID: 1264604 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1638-6183 (Electronic) Linking ISSN: 03009084 NLM ISO Abbreviation: Biochimie Subsets: MEDLINE
Academic Journal
Van Scherpenzeel M; 1 Laboratory of Genetic, Endocrine and Metabolic Diseases, Radboud University Medical Centre, Nijmegen, The Netherlands.; Timal S; Rymen D; Hoischen A; Wuhrer M; Hipgrave-Ederveen A; Grunewald S; Peanne R; Saada A; Edvardson S; Grønborg S; Ruijter G; Kattentidt-Mouravieva A; Brum JM; Freckmann ML; Tomkins S; Jalan A; Prochazkova D; Ondruskova N; Hansikova H; Willemsen MA; Hensbergen PJ; Matthijs G; Wevers RA; Veltman JA; Morava E; Lefeber DJ
Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Academic Journal
Rymen D; Center for Human Genetics, University of Leuven, Leuven, Belgium ; Center for Metabolic Diseases, University Hospital Gasthuisberg, Leuven, Belgium.; Peanne R; Center for Human Genetics, University of Leuven, Leuven, Belgium.; Millón MB; Centro de Estudio Metabalopatías Congénitas, Faculdad de Ciencias Médicas, Universidad Nacional de Córdoba, Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina.; Race V; Center for Human Genetics, University of Leuven, Leuven, Belgium.; Sturiale L; Institute of Chemistry and Technology of Polymers, CNR, Catania, Italy.; Garozzo D; Institute of Chemistry and Technology of Polymers, CNR, Catania, Italy.; Mills P; Clinical & Molecular Genetics Unit, Institute of Child Health, University College and Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom.; Clayton P; Clinical & Molecular Genetics Unit, Institute of Child Health, University College and Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom.; Asteggiano CG; Centro de Estudio Metabalopatías Congénitas, Faculdad de Ciencias Médicas, Universidad Nacional de Córdoba, Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina.; Quelhas D; Unidade de Genética Médica, Departamento de Genética Humana, Centro de Genética Médica - Dr. Jacinto Magalhães - INSA, IP. Porto, Portugal.; Cansu A; Gazi University Faculty of Medicine, Department of Paediatric Neurology, Besevler/Ankara, Turkey.; Martins E; Unidade de Doenças Metabólicas, Hospital de Crianças Maria Pia, Porto, Portugal.; Nassogne MC; Université Catholique de Louvain, Cliniques Universitaires Saint-Luc, Brussels, Belgium.; Gonçalves-Rocha M; Unidade de Genética Médica, Departamento de Genética Humana, Centro de Genética Médica - Dr. Jacinto Magalhães - INSA, IP. Porto, Portugal.; Topaloglu H; Department of Child Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.; Jaeken J; Center for Metabolic Diseases, University Hospital Gasthuisberg, Leuven, Belgium.; Foulquier F; Structural and Functional Glycobiology Unit, UMR CNRS/USTL 8576, IFR 147, University of Lille 1, Villeneuve d'Ascq, France.; Matthijs G; Center for Human Genetics, University of Leuven, Leuven, Belgium.
Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE
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