Zobrazeno 1 - 10
of 718
pro vyhledávání: '"Frugier, M."'
Autor:
Pitolli M; Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN, Strasbourg, France., Cela M; Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN, Strasbourg, France., Kapps D; Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN, Strasbourg, France., Chicher J; Strasbourg-Esplanade Proteomics Facility, Université de Strasbourg, Strasbourg, France., Despons L; Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN, Strasbourg, France., Frugier M; Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN, Strasbourg, France.
Publikováno v:
IUBMB life [IUBMB Life] 2024 Dec; Vol. 76 (12), pp. 1403-1413. Date of Electronic Publication: 2024 Jul 04.
Autor:
Mendes MI; Department Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands., Wolf NI; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam UMC and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, VU University Amsterdam, De Boelelaan 1117, 1081HV Amsterdam, the Netherlands., Rudinger-Thirion J; Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN UPR 9002, Institut de Biologie Moléculaire et Cellulaire, 2 allée Konrad Roentgen, 67084 Strasbourg, France., Lenz D; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany., Frugier M; Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN UPR 9002, Institut de Biologie Moléculaire et Cellulaire, 2 allée Konrad Roentgen, 67084 Strasbourg, France., Verloo P; Department of Pediatric Neurology, Center for Inherited Metabolic Disorders and metabERN, University Hospital Ghent, C. Heymanslaan 10, B-9000 Ghent, Belgium., Mandel H; Department of Genetic and Metabolic Disorders, Ziv Medical Center, Derech HaRambam 1, Safed, Israel., Manor J; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital Sheba Medical Center Tel-Hashomer, Derech Sheba 2, Ramat Gan, Israel., Kassel R; Department of Pediatrics, University of Alabama at Birmingham School of Medicine, 1670 University Blvd, Birmingham, AL 35233, USA., Corpeleijn WE; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Diabetes and Metabolism, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands., van der Rijt S; Department Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands., Schroor EM; Department Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands., van Dooren SJM; Department Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands., Staufner C; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany., Salomons GS; Department Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands., Smith DEC; Department Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.
Publikováno v:
Nucleic acids research [Nucleic Acids Res] 2024 Nov 22. Date of Electronic Publication: 2024 Nov 22.
Autor:
Debande L; Université de Strasbourg, Institut de Biologie Moléculaire et Cellulaire (IBMC), Architecture et Réactivité de l'ARN, Strasbourg 67000, France., Sabbah A; Université de Strasbourg, Institut de Biologie Moléculaire et Cellulaire (IBMC), Architecture et Réactivité de l'ARN, Strasbourg 67000, France., Kuhn L; Plateforme protéomique Strasbourg Esplanade FRC1589 du CNRS, Université de Strasbourg, Strasbourg 67000, France., Ngondo RP; Université de Strasbourg, Institut de Biologie Moléculaire et Cellulaire (IBMC), Architecture et Réactivité de l'ARN, Strasbourg 67000, France., Maucotel J; Université de Strasbourg, Institut de Biologie Moléculaire et Cellulaire (IBMC), Architecture et Réactivité de l'ARN, Strasbourg 67000, France., Valente-Barroso M; Université de Strasbourg, Institut de Biologie Moléculaire et Cellulaire (IBMC), Architecture et Réactivité de l'ARN, Strasbourg 67000, France., André AC; Université de Strasbourg, Institut de Biologie Moléculaire et Cellulaire (IBMC), Architecture et Réactivité de l'ARN, Strasbourg 67000, France., Roche B; Université de Strasbourg, Institut de Biologie Moléculaire et Cellulaire (IBMC), Architecture et Réactivité de l'ARN, Strasbourg 67000, France., Laborde M; Université de Strasbourg, Institut de Biologie Moléculaire et Cellulaire (IBMC), Architecture et Réactivité de l'ARN, Strasbourg 67000, France., Cantalapiedra-Mateo MV; Université de Strasbourg, Institut de Biologie Moléculaire et Cellulaire (IBMC), Architecture et Réactivité de l'ARN, Strasbourg 67000, France., Thahouly T; Université de Strasbourg, Institut de Biologie Moléculaire et Cellulaire (IBMC), Architecture et Réactivité de l'ARN, Strasbourg 67000, France., Milinski A; Université de Strasbourg, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch 67404, France., Bianchetti L; Université de Strasbourg, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch 67404, France., Allmang C; Université de Strasbourg, Institut de Biologie Moléculaire et Cellulaire (IBMC), Architecture et Réactivité de l'ARN, Strasbourg 67000, France., Frugier M; Université de Strasbourg, Institut de Biologie Moléculaire et Cellulaire (IBMC), Architecture et Réactivité de l'ARN, Strasbourg 67000, France., Marteyn BS; Université de Strasbourg, Institut de Biologie Moléculaire et Cellulaire (IBMC), Architecture et Réactivité de l'ARN, Strasbourg 67000, France.; Institut Pasteur, INSERM U1225, Unité de Pathogenèse des Infections Vasculaires, Paris Cedex 75724, France.; University of Strasbourg Institute for Advanced Study (USIAS), Strasbourg 67000, France.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2024 Nov 05; Vol. 121 (45), pp. e2319951121. Date of Electronic Publication: 2024 Oct 30.
Autor:
Pitolli M; Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN, UPR 9002, F-67084, Strasbourg, France., Cela M; Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN, UPR 9002, F-67084, Strasbourg, France., Paulus C; Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN, UPR 9002, F-67084, Strasbourg, France., Rudinger-Thirion J; Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN, UPR 9002, F-67084, Strasbourg, France., Frugier M; Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN, UPR 9002, F-67084, Strasbourg, France. Electronic address: m.frugier@ibmc-cnrs.unistra.fr.
Publikováno v:
Biochimie [Biochimie] 2024 Feb; Vol. 217, pp. 106-115. Date of Electronic Publication: 2023 Jul 04.
Autor:
Jaramillo Ponce JR; Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN, UPR 9002, F-67084 Strasbourg, France., Frugier M; Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN, UPR 9002, F-67084 Strasbourg, France.
Publikováno v:
Biomolecules [Biomolecules] 2023 Dec 29; Vol. 14 (1). Date of Electronic Publication: 2023 Dec 29.
Autor:
Neyroud AS; CHU Rennes, Service de Biologie de la Reproduction-CECOS, F-35033, Rennes, France.; Univ Rennes, CHU Rennes, INSERM, EHESP, IRSET (Institut de Recherche en Santé, Environnement et Travail)-UMR_S 1085, F-35000, Rennes, France., Rudinger-Thirion J; Université de Strasbourg, Architecture et Réactivité de l'ARN, CNRS, IBMC, Strasbourg, France., Frugier M; Université de Strasbourg, Architecture et Réactivité de l'ARN, CNRS, IBMC, Strasbourg, France., Riley LG; Rare Diseases Functional Genomics, Kids Research, The Children's Hospital at Westmead and The Children's Medical Research Institute, Sydney, NSW, Australia.; Specialty of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia., Bidet M; Clinique Mutualiste La Sagesse, Service of AMP, 35000, Rennes, France., Akloul L; CHU Rennes, Service de Génétique Clinique, CLAD Ouest, F-35033, Rennes, France., Simpson A; School of Allied Health, College of Science, Health and Engineering, La Trobe University, Bundoora, VIC, Australia.; College of Health and Human Services, Charles Darwin University, Darwin, NT, Australia., Gilot D; CHU Rennes, Service de Cytogénétique et Biologie Cellulaire, F-35033, Rennes, France.; INSERM U1242, COSS, Université Rennes 1, F-35032, Rennes, France., Christodoulou J; Specialty of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Ravel C; CHU Rennes, Service de Biologie de la Reproduction-CECOS, F-35033, Rennes, France.; Univ Rennes, CHU Rennes, INSERM, EHESP, IRSET (Institut de Recherche en Santé, Environnement et Travail)-UMR_S 1085, F-35000, Rennes, France., Sinclair AH; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Belaud-Rotureau MA; CHU Rennes, Service de Biologie de la Reproduction-CECOS, F-35033, Rennes, France.; Univ Rennes, CHU Rennes, INSERM, EHESP, IRSET (Institut de Recherche en Santé, Environnement et Travail)-UMR_S 1085, F-35000, Rennes, France.; School of Allied Health, College of Science, Health and Engineering, La Trobe University, Bundoora, VIC, Australia., Tucker EJ; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia. elena.tucker@mcri.edu.au.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia. elena.tucker@mcri.edu.au., Jaillard S; Univ Rennes, CHU Rennes, INSERM, EHESP, IRSET (Institut de Recherche en Santé, Environnement et Travail)-UMR_S 1085, F-35000, Rennes, France. sylvie.jaillard@chu-rennes.fr.; CHU Rennes, Service de Cytogénétique et Biologie Cellulaire, F-35033, Rennes, France. sylvie.jaillard@chu-rennes.fr.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Apr; Vol. 31 (4), pp. 453-460. Date of Electronic Publication: 2022 Dec 01.
Autor:
Riley LG; Rare Diseases Functional Genomics, Kids Research, The Children's Hospital at Westmead and The Children's Medical Research Institute, Sydney, Australia.; Discipline of Child & Adolescent Health, Sydney Medical School, Sydney, Australia., Rudinger-Thirion J; Université de Strasbourg, Architecture et Réactivité de l'ARN, CNRS, IBMC, Strasbourg, France., Frugier M; Université de Strasbourg, Architecture et Réactivité de l'ARN, CNRS, IBMC, Strasbourg, France., Wilson M; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, Australia.; Discipline of Genomic Medicine, University of Sydney, Sydney, Australia., Luig M; Department of Neonatology, Westmead Hospital, Sydney, Australia., Alahakoon TI; Westmead Institute for Maternal & Fetal Medicine, Westmead Hospital & University of Sydney, Sydney, Australia., Nixon CY; Neuroscience Research Australia (NeuRA), University of New South Wales, Sydney, Australia.; Genetics Laboratory, NSW Health Pathology, Sydney, Australia., Kirk EP; Genetics Laboratory, NSW Health Pathology, Sydney, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, Australia., Roscioli T; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, Australia., Lunke S; Victorian Clinical Genetics Services, The Royal Children's Hospital, Melbourne, Australia.; Department of Pathology, University of Melbourne, Melbourne, Australia.; Australian Genomics Health Alliance, Melbourne, Australia., Stark Z; Victorian Clinical Genetics Services, The Royal Children's Hospital, Melbourne, Australia.; Australian Genomics Health Alliance, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Wierenga KJ; Department of Pediatrics, University of Oklahoma Health Sciences Center (OUHSC), Oklahoma City, OK.; Department of Clinical Genomics, Mayo Clinic, Jacksonville, Florida., Palle S; Department of Pediatrics, University of Oklahoma Health Sciences Center (OUHSC), Oklahoma City, OK., Walsh M; Genetic Medicine & Familial Cancer Centre, Royal Melbourne Hospital, Melbourne, Australia., Higgs E; Genetic Medicine & Familial Cancer Centre, Royal Melbourne Hospital, Melbourne, Australia., Arbuckle S; Department of Pathology, The Children's Hospital at Westmead, Sydney, Australia., Thirukeswaran S; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Murdoch Children's Research Institute, The Royal Children's Hospital, Melbourne, Australia., Compton AG; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Murdoch Children's Research Institute, The Royal Children's Hospital, Melbourne, Australia., Thorburn DR; Victorian Clinical Genetics Services, The Royal Children's Hospital, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Murdoch Children's Research Institute, The Royal Children's Hospital, Melbourne, Australia., Christodoulou J; Discipline of Child & Adolescent Health, Sydney Medical School, Sydney, Australia.; Victorian Clinical Genetics Services, The Royal Children's Hospital, Melbourne, Australia.; Australian Genomics Health Alliance, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Murdoch Children's Research Institute, The Royal Children's Hospital, Melbourne, Australia.
Publikováno v:
Human mutation [Hum Mutat] 2020 Aug; Vol. 41 (8), pp. 1425-1434.
Autor:
Jaramillo Ponce JR; Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN, UPR 9002, Strasbourg, France., Théobald-Dietrich A; Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN, UPR 9002, Strasbourg, France., Bénas P; Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN, UPR 9002, Strasbourg, France., Paulus C; Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN, UPR 9002, Strasbourg, France., Sauter C; Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN, UPR 9002, Strasbourg, France., Frugier M; Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN, UPR 9002, Strasbourg, France.
Publikováno v:
Protein science : a publication of the Protein Society [Protein Sci] 2023 Feb; Vol. 32 (2), pp. e4564.
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Autor:
Jaramillo Ponce JR; Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN, UPR 9002, Strasbourg, France., Kapps D; Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN, UPR 9002, Strasbourg, France., Paulus C; Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN, UPR 9002, Strasbourg, France., Chicher J; Strasbourg-Esplanade Proteomics Facility, Université de Strasbourg, Strasbourg, France., Frugier M; Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN, UPR 9002, Strasbourg, France. Electronic address: m.frugier@ibmc-cnrs.unistra.fr.
Publikováno v:
The Journal of biological chemistry [J Biol Chem] 2022 Jun; Vol. 298 (6), pp. 101987. Date of Electronic Publication: 2022 Apr 27.