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المؤلفون: Guillaume Grob, Marine Hemmerle, Nathaniel Yakobov, Nassira Mahmoudi, Frederic Fischer, Bruno Senger, Hubert Dominique Becker
المصدر: Biochimie. 203:93-105
مصطلحات موضوعية: Amino Acyl-tRNA Synthetases, RNA, Transfer, Cell Wall, Peptidoglycan, General Medicine, Amino Acids, RNA, Transfer, Amino Acyl, Biochemistry
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المؤلفون: Gaétan Bader, Ludovic Enkler, Yuhei Araiso, Marine Hemmerle, Krystyna Binko, Emilia Baranowska, Johan-Owen De Craene, Julie Ruer-Laventie, Jean Pieters, Déborah Tribouillard-Tanvier, Bruno Senger, Jean-Paul di Rago, Sylvie Friant, Roza Kucharczyk, Hubert Dominique Becker
المصدر: eLife, Vol 9 (2020)
مصطلحات موضوعية: mitochondria, dual localized protein, Split-GFP, import, aminoacyl-tRNA synthetase, argonaute 2 protein, Medicine, Science, Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: Edgard Verdura, Bruno Senger, Miquel Raspall-Chaure, Agatha Schlüter, Nathalie Launay, Montserrat Ruiz, Carlos Casasnovas, Agustí Rodriguez-Palmero, Alfons Macaya, Hubert Dominique Becker, Aurora Pujol
المساهمون: Génétique et Physiopathologie des Maladies Cérébro-Vasculaires (U1161 / UMR_S 1161), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Universitat Autònoma de Barcelona (UAB), Hôpital Henri Mondor, Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL), CIBER de Enfermedades Raras (CIBERER), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Architecture et réactivité de l'ARN (ARN), Université Louis Pasteur - Strasbourg I-Centre National de la Recherche Scientifique (CNRS), Neurometabolic Diseases Laboratory [Barcelona, Spain], Centre for Biomedical Research on Rare Diseases [Barcelona, Spain] (CIBERER), Hospital Sant Joan de Déu [Barcelona], Institució Catalana de Recerca i Estudis Avançats (ICREA), Institut Català de la Salut, [Verdura E, Schlüter A, Launay N, Ruiz M] Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain. Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. [Senger B] Université de Strasbourg 1, Strasbourg, France. [Raspall-Chaure M] Grup de Recerca en Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Macaya A] Grup de Recerca en Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Servei de Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Institut de Neurociències, Universitat Autònoma de Barcelona, Bellaterra, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2022, pp.jmedgenet-2022-108529. ⟨10.1136/jmg-2022-108529⟩
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Scientiaمصطلحات موضوعية: nervous system diseases, Paraplegia - Aspectes genètics, Sequence analysis, RNA, pediatrics, sequence analysis, Otros calificadores::Otros calificadores::/genética [Otros calificadores], neurology, [SDV]Life Sciences [q-bio], Cell Physiological Phenomena::Cellular Senescence [PHENOMENA AND PROCESSES], genetic research, Nervous system diseases, Pediatrics, Nervous System Diseases::Neurologic Manifestations::Paralysis::Paraplegia [DISEASES], enfermedades del sistema nervioso::manifestaciones neurológicas::parálisis::paraplejía [ENFERMEDADES], Neurology, Other subheadings::Other subheadings::/genetics [Other subheadings], Genetics, RNA, fenómenos fisiológicos celulares::senescencia celular [FENÓMENOS Y PROCESOS], Cèl·lules - Envelliment, Genetic research, Genetics (clinical)
وصف الملف: application/pdf
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4دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
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المؤلفون: Cheryl Cytrynbaum, Francesca Mattioli, Maria J. Guillen Sacoto, Federico Santoni, Rosanna Weksberg, Amina Nasar, Annemarie Fock, Henry Houlden, Shaikh Riazuddin, Tobias B. Haack, Roisin Sullivan, Mona Grimmel, Helen Griffin, Stylianos E. Antonarakis, Nuzhat Rana, Andreea Manole, Marisa I. Mendes, Ayca Dilruba Aslanger, Justyna Iwaszkiewicz, Julia Mohr, Rolph Pfundt, Muhammed Ilyas, Tina Duelund Hjortshøj, Kshitij Mankad, Muhammad Ansar, Katherine M. Christensen, Sonal Desai, Aida Telegrafi, Faisal Zafar, Helena Gásdal Karstensen, Dagan Jenkins, Yue Si, John F. Mantovani, Alice Goldenberg, Sylvain Debard, Muhammad T. Sarwar, Jagdeep S. Walia, Stephanie Efthymiou, Rita Horvath, Vincenzo Salpietro, Reza Maroofian, Jawad Ahmed, Joost Raaphorst, Lindsay B. Henderson, Benyekhlef Kara, Lauren Badalato, Adnan Y. Manzur, Desirée E.C. Smith, Ruben Portier, Marwan Shinawi, Marisa V. Andrews, Gajja S. Salomons, John B. Vincent, Amélie Piton, Felix Distelmaier, Emmanuelle Ranza, Jean-Louis Mandel, Sohail A. Paracha, Marybeth Hummel, Jürg Bähler, Dustin Baldridge, Muhammad A. Usmani, Lu Wang, Maria Rodriguez Lopez, Frédéric Fischer, Annette Seibt, Servi J. C. Stevens, Matthew J. Jennings, Majdi Kara, Amelia Kirby, Hubert Dominique Becker, Kristin W. Barañano, Christopher S. Francklyn, Saima Riazuddin, Rasim Ozgur Rosti, Emer O'Connor, Yalda Jamshidi, Barbara Oehl-Jaschkowitz, Ricardo Harripaul, Anne Marie Jelsig, Anna Sarkozy, Indran Davagnanam, Zubair M. Ahmed, David A. Koolen, Joseph G. Gleeson, Heinz Gabriel, Alkyoni Athanasiou-Fragkouli, Muhammad Ayub, Alejandro Horga, Conny van Ravenwaaij, Bruno Senger, Ingrid M. Wentzensen
المساهمون: Clinical Cognitive Neuropsychiatry Research Program (CCNP), Neurology, Laboratory Genetic Metabolic Diseases, ANS - Cellular & Molecular Mechanisms, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ASLANGER, Ayça Dilruba, Université de Strasbourg (UNISTRA), MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output, Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D)
المصدر: American Journal of Human Genetics, 107, 2, pp. 311-324
American Journal of Human Genetics, 107(2), 311-324. CELL PRESS
American journal of human genetics, 107(2), 311-324. Cell Press
American Journal of Human Genetics, 107, 311-324
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 107 (2), pp.311-324. ⟨10.1016/j.ajhg.2020.06.016⟩
American Journal of Human Genetics, 107(2), 311-324. Cell Press
Manole, A, Efthymiou, S, O'Connor, E, Mendes, M I, Jennings, M, Maroofian, R, Davagnanam, I, Mankad, K, Lopez, M R, Salpietro, V, Harripaul, R, Badalato, L, Walia, J, Francklyn, C S, Athanasiou-Fragkouli, A, Sullivan, R, Desai, S, Baranano, K, Zafar, F, Rana, N, Ilyas, M, Horga, A, Kara, M, Mattioli, F, Goldenberg, A, Griffin, H, Piton, A, Henderson, L B, Kara, B, Aslanger, A D, Raaphorst, J, Pfundt, R, Portier, R, Shinawi, M, Kirby, A, Christensen, K M, Wang, L, Rosti, R O, Paracha, S A, Sarwar, M T, Jenkins, D, Ahmed, J, Santoni, F A, Ranza, E, Iwaszkiewicz, J, Cytrynbaum, C, Weksberg, R, Wentzensen, I M, Guillen Sacoto, M J, Si, Y, Telegrafi, A, Andrews, M V, Baldridge, D, Gabriel, H, Mohr, J, Oehl-Jaschkowitz, B, Debard, S, Senger, B, Fischer, F, van Ravenwaaij, C, Fock, A J M, Stevens, S J C, Bähler, J, Nasar, A, Mantovani, J F, Manzur, A, Sarkozy, A, Smith, D E C, Salomons, G S, Ahmed, Z M, Riazuddin, S, Riazuddin, S, Usmani, M A, Seibt, A, Ansar, M, Antonarakis, S E, Vincent, J B, Ayub, M, Grimmel, M, Jelsig, A M, Hjortshøj, T D, Karstensen, H G, Hummel, M, Haack, T B, Jamshidi, Y, Distelmaier, F, Horvath, R, Gleeson, J G, Becker, H, Mandel, J L, Koolen, D A, Houlden, H & SYNAPS Study Group 2020, ' De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects ', American journal of human genetics, vol. 107, no. 2, pp. 311-324 . https://doi.org/10.1016/j.ajhg.2020.06.016
Am J Hum Genetمصطلحات موضوعية: Male, 0301 basic medicine, Microcephaly, Developmental delay, [SDV]Life Sciences [q-bio], Aspartate-tRNA Ligase, TRANSFER-RNA SYNTHETASE, RNA, Transfer, Amino Acyl, 0302 clinical medicine, RNA, Transfer, Loss of Function Mutation, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), next generation sequencing, chemistry.chemical_classification, Genetics, neurodevelopment, Stem Cells, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Neural stem cell, Pedigree, Amino acid, developmental delay, Gain of Function Mutation, Transfer RNA, Female, Amino Acyl, medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], EXPRESSION, Ataxia, Biology, Article, Cell Line, Amino Acyl-tRNA Synthetases, 03 medical and health sciences, aminoacyl-tRNA synthetase, epilepsy, neuropathy, Alleles, Genetic Predisposition to Disease, Humans, Neurodevelopmental Disorders, 2 SIBLINGS, medicine, Allele, Epilepsy, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], MUTATIONS, medicine.disease, Transfer, 030104 developmental biology, Enzyme, chemistry, Aminoacyl-tRNA synthetase, RNA, 030217 neurology & neurosurgery, Function (biology)
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a52bcefda63010f9428f83b46704ce25
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المؤلفون: Gaetan Bader, Ludovic Enkler, Yuhei Araiso, Marine Hemmerle, Krystyna Bińko, Emilia Baranowska, Aneta Więsyk, Johan-Owen De Craene, Julie Ruer-Laventie, Jean Pieters, Deborah Tribouillard-Tanvier, Bruno Senger, Jean-Paul di Rago, Sylvie Friant, Hubert Dominique Becker, Róża Kucharczyk
المصدر: Biochimica et Biophysica Acta (BBA) - Bioenergetics. 1863:148895
مصطلحات موضوعية: Biophysics, Cell Biology, Biochemistry
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المؤلفون: Marine, Hemmerle, Marion, Wendenbaum, Guillaume, Grob, Nathaniel, Yakobov, Nassira, Mahmoudi, Bruno, Senger, Sylvain, Debard, Frédéric, Fischer, Hubert Dominique, Becker
المصدر: The Enzymes. 48
مصطلحات موضوعية: Amino Acyl-tRNA Synthetases, RNA, Transfer, Aminoacylation, Transfer RNA Aminoacylation, Amino Acids
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::bd07634c6513a42628b8fd35b0a25207
https://pubmed.ncbi.nlm.nih.gov/33837702 -
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المؤلفون: Gaétan Bader, Jean Pieters, Krystyna Binko, Emilia Baranowska, Johan-Owen De Craene, Marine Hemmerle, Ludovic Enkler, Sylvie Friant, Bruno Senger, Roza Kucharczyk, Jean-Paul di Rago, Hubert Dominique Becker, Déborah Tribouillard-Tanvier, Julie Ruer-Laventie, Yuhei Araiso
مصطلحات موضوعية: Chemistry, DUAL (cognitive architecture), Mitochondrial localization, Yeast, Green fluorescent protein, Cell biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::653163d091c90f677c993efe1100f9ad
https://doi.org/10.7554/elife.56649.sa2 -
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المؤلفون: Marion Wendenbaum, Hubert Dominique Becker, Sylvain Debard, Nassira Mahmoudi, Marine Hemmerle, Guillaume Grob, Frédéric Fischer, Bruno Senger, Nathaniel Yakobov
المساهمون: Génétique moléculaire, génomique, microbiologie (GMGM), Université Louis Pasteur - Strasbourg I-Centre National de la Recherche Scientifique (CNRS), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)
المصدر: The Enzymes: Biology of Aminoacyl-tRNA Synthetases
The Enzymes
The Enzymes, 48, 2020, Biology of Aminoacyl-tRNA Synthetases, ⟨10.1016/bs.enz.2020.04.003⟩مصطلحات موضوعية: Aminoacylation, tRNA-dependent, Peptidoglycan, Heme, Protein degradation, Ribosome, N-end rule, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Antibiotics, Protein biosynthesis, TRNA aminoacylation, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, 030304 developmental biology, chemistry.chemical_classification, 0303 health sciences, Aminoacyl-tRNA, Chemistry, Lipid, Amino acid, Biochemistry, Transfer RNA, Noncanonical, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f07851e4e44e99e7d4a06a55f2624cf
https://hal.archives-ouvertes.fr/hal-02919274 -
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المؤلفون: Hanna Debiec, Ashley Broughton, Michel Wauthier, Albert Hermant, Benoit Georges, Abdelhamid Lalaoui, Diego Castanares-Zapatero, Matthieu Lemaire, Fabienne Mestrez, Yves Pirson, Nicolas Hanset, Nada Kanaan, Gregory Van Ingelgem, Roxana Sava, Benoit Guillaume, Jean-Michel Pochet, Frédéric Debelle, Lionel Mazzoleni, Valentine Gillion, Michel Tintillier, Nicolas Cecere, Philippe Leroy, Jean-Claude Stolear, Gabriela Migali, Benjamin Seront, Pierre Ronco, Corinne Langen, Michele Muller, Georges Cornet, Arnaud Devresse, Guy Fomegne, Nathalie Demoulin, Yvan Philips, Charlotte Van Ende, Assma Ballout, Delphine Halleux, Nadejda Ranguelov, Pierre-Yves Decleire, Ahmed Goubella, Christine Hurtgen, Ralph Crott, Pauline Biller, Johann Morelle, An Van Audenhove, Philippe Durieux, Caroline Clerckx, Nathalie Godefroid, Dominique Becker, Charles Cuvelier, Selda Aydin, Hélène Munyentwali, Francois Reginster, Jean-Louis Christophe, Jean-Philippe Lengelé, René Cuvelier, Benoit Buysschaert, Joëlle Ghysen, Jean-Jacques Lafontaine, Jean-François Cambier, Eric Goffin, Fabrice Gankam, Agnès Dejardin, Olivier Mat, Laura Labriola, Jean Jamez, Jean-Pierre Cosyns, Gaetan Clerbaux, Pierre Bernis, Michel Jadoul, Miguel-Ange Guillen-Anaya, Gaëlle Gillerot, Marie Rommelaere, Bénédicte Vanderperren, Joseph Mbaba Mena, Alina Tirdea, Liesbeth Smets, Frédéric Houssiau, Zuzana Rihova
المساهمون: UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - SSS/IREC/MORF - Pôle de Morphologie, UCL - SSS/IREC/RUMA - Pôle de Pathologies rhumatismales, UCL - (SLuc) Service de néphrologie, UCL - (SLuc) Service d'anatomie pathologique, UCL - (SLuc) Service de soins intensifs, UCL - (SLuc) Service de rhumatologie, CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Cliniques Universitaires Saint-Luc [Bruxelles], Lille économie management - UMR 9221 (LEM), Université d'Artois (UA)-Université catholique de Lille (UCL)-Université de Lille-Centre National de la Recherche Scientifique (CNRS), Université Catholique de Louvain = Catholic University of Louvain (UCL), Des Maladies Rénales Rares aux Maladies Fréquentes, Remodelage et Réparation, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Recherche Expérimentale et Clinique (IREC), ANR-17-CE17-0012,MNaims,Dissection moléculaire de la glomérulonéphrite extramembraneuse liée à PLA2R1: vers l'identification de nouveaux biomarqueurs cliniques(2017), UCL - SSS/IREC - Institut de recherche expérimentale et clinique
المصدر: American journal of kidney diseases, Vol. 76, no. 5, p. 624-635 (2020)
American Journal of Kidney Diseases
American Journal of Kidney Diseases, 2020, 76 (5), pp.624-635. ⟨10.1053/j.ajkd.2020.04.013⟩
American journal of kidney diseases : the official journal of the National Kidney Foundation, (2020)مصطلحات موضوعية: Male, Biopsy, 030232 urology & nephrology, glomerular disease, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, Gastroenterology, Glomerulonephritis, Membranous, phospholipase A(2) receptor (PLA(2)R), 0302 clinical medicine, Medicine, thrombospondin type 1 domain-containing 7A (THSD7A), 030212 general & internal medicine, Kidney, immunostaining, medicine.diagnostic_test, Podocytes, nephrotic syndrome, Middle Aged, 3. Good health, medicine.anatomical_structure, Phenotype, Nephrology, Disease Progression, outcome, Female, Adult, medicine.medical_specialty, kidney biopsy, thrombospondin type 1 domain-containing 7A, 03 medical and health sciences, Membranous nephropathy, Internal medicine, Humans, cancer, Aged, Autoantibodies, Retrospective Studies, phospholipase A2 receptor, Lupus erythematosus, Staining and Labeling, business.industry, membranous nephropathy, Cancer, Retrospective cohort study, medicine.disease, podocyte antigen, business, Nephrotic syndrome, Kidney disease, Follow-Up Studies, Membranous nephropathy (MN), malignancy