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pro vyhledávání: '"F Chapon"'
Akademický článek
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Publikováno v:
La Revue de Médecine Interne. 42:541-557
Mitochondrial diseases, characterized by a respiratory chain deficiency, are considered as rare genetic diseases but are the most frequent among inherited metabolic disorders. The complexity of their diagnosis is due to the dual control by the mitoch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fa9d21a33c3ed2f7f52d40ddcef86346
https://doi.org/10.1016/j.revmed.2020.12.002
https://doi.org/10.1016/j.revmed.2020.12.002
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
La Revue de medecine interne. 42(8)
Mitochondrial diseases, characterized by a respiratory chain deficiency, are considered as rare genetic diseases but are the most frequent among inherited metabolic disorders. The complexity of their diagnosis is due to the dual control by the mitoch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f99d0ca00818ea1484dc125aa3270ca6
https://pubmed.ncbi.nlm.nih.gov/33455836
https://pubmed.ncbi.nlm.nih.gov/33455836
Autor:
A. Perrin, R. Juntas Morales, F. Chapon, C. Thèze, D. Lacourt, P. Pégeot, E. Uro-Coste, D. Giovannini, N. Leboucq, M. Mallaret, V. Rigau, K. Gaudon, P. Richard, M. Koenig, C. Métay, M. Cossée
Publikováno v:
Neuromuscular Disorders. 31:S159
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f42b9a23122980e8deec4d306a42e7db
https://doi.org/10.1016/j.nmd.2021.07.384
https://doi.org/10.1016/j.nmd.2021.07.384
Autor:
Celso Pouget, Sébastien Hergalant, Emilie Lardenois, Stéphanie Lacomme, Rémi Houlgatte, Catherine Carpentier, Caroline Dehais, Fabien Rech, Luc Taillandier, Marc Sanson, Romain Appay, Carole Colin, Dominique Figarella‐Branger, Shyue‐Fang Battaglia‐Hsu, Guillaume Gauchotte, Christine Desenclos, H. Sevestre, Philippe Menei, A. Rousseau, T. Cruel, S. Lopez, M.I. Mihai, A. Petit, R. Seizeur, I. Quintin‐Roué, C. Adam, F. Parker, S. Eimer, H. Loiseau, L. Bekaert, F. Chapon, D. Ricard, C. Godfraind, T. Khallil, D. Cazals‐Hatem, T. Faillot, C. Gaultier, M. C Tortel, I. Carpiuc, P. Richard, W. Lahiani, H. Aubriot‐Lorton, F. Ghiringhelli, C‐A Maurage, E. Le Rhun, E. M. Gueye, F. Labrousse, F. Ducray, D. Meyronet, O. Chinot, L. Bauchet, V. Rigau, P. Beauchesne, M. Campone, D. Loussouarn, D. Fontaine, F. Vandenbos‐Burel, A. Le. Floch, P. Roger, C. Blechet, M. Fesneau, A. Carpentier, A. Idbaih, J. Y. Delattre, K. Mokhtari, F. Bielle, S. Hamdi, M. Polivka, S. Milin, P. Colin, M. D. Diebold, D. Chiforeanu, E. Vauleon, O. Langlois, A. Laquerriere, F. Forest, M. J. Motso‐Fotso, M. Andraud, G. Runavot, B. Lhermitte, G. Noel, S. Gaillard, C. Villa, N. Desse, C. Rousselot‐Denis, I. Zemmoura, E. Cohen‐Moyal, E. Uro‐Coste, F. Dhermain
Publikováno v:
Brain Pathol
Brain Pathology
Brain Pathology, 2020, 30 (3), pp.465-478. ⟨10.1111/bpa.12788⟩
Brain Pathology, Wiley, 2020, 30 (3), pp.465-478. ⟨10.1111/bpa.12788⟩
Brain Pathology
Brain Pathology, 2020, 30 (3), pp.465-478. ⟨10.1111/bpa.12788⟩
Brain Pathology, Wiley, 2020, 30 (3), pp.465-478. ⟨10.1111/bpa.12788⟩
International audience; Anaplastic oligodendroglioma (AO), IDH‐mutant and 1p/19q codeleted (IDHmut+/1p19qcodel), is a high‐grade glioma with only limited prognostic markers. The primary objective of this study was to evaluate, by immunohistochemi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8810b3c3f3d699dfc454cfd29ae942ea
https://europepmc.org/articles/PMC8018020/
https://europepmc.org/articles/PMC8018020/
Autor:
Constantinos Papadopoulos, David Orlikowski, Hélène Prigent, Arnaud Lacour, Céline Tard, Alain Furby, Julien Praline, Guilhem Solé, Jean-Yves Hogrel, Marie De Antonio, Claudio Semplicini, Joelle Deibener-Kaminsky, Pierre Kaminsky, Bruno Eymard, Nadjib Taouagh, Barbara Perniconi, Dalil Hamroun, Pascal Laforêt, G. Bassez, A.-L. Bedat-Millet, A. Behin, B. Eymard, S. Leonard-Louis, T. Stojkovic, A. Canal, V. Decostre, F. Bouhour, F. Boyer, C. Caillaud, Y. Castaing, F. Chapon, P. Cintas, I. Durieu, A. Echaniz-Laguna, L. Feasson, X. Ferrer, R. Froissart, M. Piraud, D. Germain, K. Benistan, N. Guffon-Fouilhoux, H. Journel, P. Labauge, A. Levy, A. Magot, Y. Péréon, M.-C. Minot-Myhié, A. Nadaj-Pakleza, C. Nathier, N. Pellegrini, P. Petiot, F. Lofaso, A. Dutry, D. Renard, S. Sacconi, C. Desnuelle, E. Salort-Campana, J. Pouget, V. Tiffreau, D. Vincent, F. Zagnoli
Publikováno v:
Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, 2017, Molecular genetics and metabolism, 122 (1-2), pp.80-85. ⟨10.1016/j.ymgme.2017.06.007⟩
Molecular Genetics and Metabolism, Elsevier, 2017, Molecular genetics and metabolism, 122 (1-2), pp.80-85. ⟨10.1016/j.ymgme.2017.06.007⟩
Molecular Genetics and Metabolism, 2017, Molecular genetics and metabolism, 122 (1-2), pp.80-85. ⟨10.1016/j.ymgme.2017.06.007⟩
Molecular Genetics and Metabolism, Elsevier, 2017, Molecular genetics and metabolism, 122 (1-2), pp.80-85. ⟨10.1016/j.ymgme.2017.06.007⟩
Background The efficacy of enzyme replacement therapy (ERT) in patients at an advanced stage of Pompe disease has only been addressed in a few studies. Our objective was to assess the long term effects of ERT in a cohort of patients with severe Pompe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2eca040ef3e520953509b66aeb672813
https://hal.univ-lille.fr/hal-02369159
https://hal.univ-lille.fr/hal-02369159
Publikováno v:
Clinica Chimica Acta. 493:S567
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ae121c1d9448dc84db05e9ef08729560
https://doi.org/10.1016/j.cca.2019.03.1190
https://doi.org/10.1016/j.cca.2019.03.1190
Autor:
P, Laforêt, K, Laloui, B, Granger, D, Hamroun, N, Taouagh, J-Y, Hogrel, D, Orlikowski, F, Bouhour, A, Lacour, E, Salort-Campana, I, Penisson-Besnier, S, Sacconi, F, Zagnoli, F, Chapon, B, Eymard, C, Desnuelle, J, Pouget, D, Vincent
Publikováno v:
Revue Neurologique. 169:595-602
Pompe disease is a rare autosomal recessive muscle lysosomal glycogenosis, characterised by limb-girdle muscle weakness and frequent respiratory involvement. The French Pompe registry was created in 2004 with the initial aim of studying the natural h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::168b913bde13165fa65af14534581b91
https://doi.org/10.1016/j.neurol.2013.07.002
https://doi.org/10.1016/j.neurol.2013.07.002
Publikováno v:
Journal de Radiologie Diagnostique et Interventionnelle. 94:482-485
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6145d462765c4a5a6f92d6cabbcfc960
https://doi.org/10.1016/j.jradio.2012.09.015
https://doi.org/10.1016/j.jradio.2012.09.015