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1دورية أكاديمية
المؤلفون: Antoine Pegat, Nathalie Streichenberger, Nicolas Lacoste, Marc Hermier, Rita Menassa, Laurent Coudert, Julian Theuriet, Roseline Froissart, Sophie Terrone, Francoise Bouhour, Laurence Michel-Calemard, Laurent Schaeffer, Arnaud Jacquier
المصدر: Genes, Vol 13, Iss 12, p 2245 (2022)
مصطلحات موضوعية: XMEA, VMA21, intronic mutation, intron retention, autophagy, vacuolar myopathy, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Sylvie Gerber, Lola Lessard, Cécile Rouzier, Samira Ait‐el‐Mkadem Saadi, Roxana Ameli, Stéphane Thobois, Lucie Abouaf, Françoise Bouhour, Josseline Kaplan, Audrey Putoux, Antoine Pegat, Jean‐Michel Rozet
المصدر: EMBO Molecular Medicine, Vol 15, Iss 8, Pp n/a-n/a (2023)
مصطلحات موضوعية: Medicine (General), R5-920, Genetics, QH426-470
العلاقة: https://doi.org/10.15252/emmm.202216090Test; https://doaj.org/toc/1757-4676Test; https://doaj.org/toc/1757-4684Test; https://doaj.org/article/0a7e7570d3ec48889ab6d74d61b6f5a7Test
الإتاحة: https://doi.org/10.15252/emmm.202216090Test
https://doaj.org/article/0a7e7570d3ec48889ab6d74d61b6f5a7Test -
3دورية أكاديمية
المؤلفون: Lucie Isoline Pisella, Sara Fernandes, Guilhem Solé, Tanya Stojkovic, Céline Tard, Jean-Baptiste Chanson, Françoise Bouhour, Emmanuelle Salort-Campana, Guillemette Beaudonnet, Louise Debergé, Fanny Duval, Aude-Marie Grapperon, Marion Masingue, Aleksandra Nadaj-Pakleza, Yann Péréon, Frédérique Audic, Anthony Behin, Diane Friedman, Armelle Magot, Jean-Baptiste Noury, Sarah Souvannanorath, Karim Wahbi, Jean-Christophe Antoine, Kévin Bigaut, Jean-Philippe Camdessanché, Pascal Cintas, Rabab Debs, Caroline Espil-Taris, Laurent Kremer, Thierry Kuntzer, Pascal Laforêt, Vincent Laugel, Martial Mallaret, Maud Michaud, Sylvain Nollet, Juliette Svahn, Savine Vicart, Rocio Nur Villar-Quiles, Isabelle Desguerre, David Adams, Sandrine Segovia-Kueny, Géraldine Merret, Elhadi Hammouda, Annamaria Molon, Shahram Attarian
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
مصطلحات موضوعية: Neuromuscular diseases, COVID-19, Risk factor, Prognosis, Medicine
العلاقة: https://doi.org/10.1186/s13023-021-02090-yTest; https://doaj.org/toc/1750-1172Test; https://doaj.org/article/1f852d93563d40c5ad7e18eea6212e9cTest
الإتاحة: https://doi.org/10.1186/s13023-021-02090-yTest
https://doaj.org/article/1f852d93563d40c5ad7e18eea6212e9cTest -
4دورية أكاديمية
المؤلفون: Emilien Bernard, Antoine Pegat, Juliette Svahn, Françoise Bouhour, Pascal Leblanc, Stéphanie Millecamps, Stéphane Thobois, Claire Guissart, Serge Lumbroso, Kevin Mouzat
المصدر: International Journal of Molecular Sciences; Volume 21; Issue 18; Pages: 6807
مصطلحات موضوعية: amyotrophic lateral sclerosis, copper zinc superoxide dismutase 1, SOD1
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms21186807Test
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5دورية أكاديمية
المؤلفون: Emmanuelle Salort-Campana, Farzad Fatehi, Sadia Beloribi-Djefaflia, Stéphane Roche, Karine Nguyen, Rafaelle Bernard, Pascal Cintas, Guilhem Solé, Françoise Bouhour, Elisabeth Ollagnon, Sabrina Sacconi, Andoni Echaniz-Laguna, Thierry Kuntzer, Nicolas Levy, Frédérique Magdinier, Shahram Attarian
المصدر: International Journal of Molecular Sciences, Vol 21, Iss 6, p 2221 (2020)
مصطلحات موضوعية: facioscapulohumeral muscular dystrophy, fshd, phenotype, genotype, association, correlation, methylation, Biology (General), QH301-705.5, Chemistry, QD1-999
العلاقة: https://www.mdpi.com/1422-0067/21/6/2221Test; https://doaj.org/toc/1422-0067Test; https://doaj.org/article/e336bd6ac652411bb115097715956adfTest
الإتاحة: https://doi.org/10.3390/ijms21062221Test
https://doaj.org/article/e336bd6ac652411bb115097715956adfTest -
6دورية أكاديمية
المؤلفون: Chafké Belmokhtar, Pierre Lozeron, David Adams, Jérôme Franques, Arnaud Lacour, Etienne Godet, Mathieu Bataille, Odile Dubourg, Gilles Angibaud, Emilien Delmont, Françoise Bouhour, Philippe Corcia, Jean Pouget
المصدر: Neurology and Therapy, Vol 8, Iss 1, Pp 69-78 (2019)
مصطلحات موضوعية: Chronic inflammatory demyelinating polyneuropathy, Immunoglobulins, Immunotherapy, Octagam®, Peripheral nervous system disease, Neurology. Diseases of the nervous system, RC346-429
العلاقة: http://link.springer.com/article/10.1007/s40120-019-0132-5Test; https://doaj.org/toc/2193-8253Test; https://doaj.org/toc/2193-6536Test; https://doaj.org/article/eb21329c854842d99e62bbf82e6c17b9Test
الإتاحة: https://doi.org/10.1007/s40120-019-0132-5Test
https://doaj.org/article/eb21329c854842d99e62bbf82e6c17b9Test -
7دورية أكاديمية
المؤلفون: Eric Hachulla, Gwendal Le Masson, Guilhem Solé, Mohamed Hamidou, Claude Desnuelle, Jean-Philippe Azulay, Gérard Besson, Laure Swiader, Sébastien Abad, Jean-Christophe Antoine, Françoise Bouhour, Alain Créange, Marike Grenouillet, Laurent Magy, Sébastien Marcel, Jean-Michel Paquet, François Rouhart, François Ziegler, Stéphane Mathis, Marc Gauthier-Darnis, Sophie Puget
المصدر: BioMed Research International, Vol 2018 (2018)
مصطلحات موضوعية: Medicine
العلاقة: http://dx.doi.org/10.1155/2018/8147251Test; https://doaj.org/toc/2314-6133Test; https://doaj.org/toc/2314-6141Test; https://doaj.org/article/6cf4e69675a34e2f9334153ccbba4d1fTest
الإتاحة: https://doi.org/10.1155/2018/8147251Test
https://doaj.org/article/6cf4e69675a34e2f9334153ccbba4d1fTest -
8دورية أكاديمية
المؤلفون: Celine Dogan, Marie De Antonio, Dalil Hamroun, Hugo Varet, Marianne Fabbro, Felix Rougier, Khadija Amarof, Marie-Christine Arne Bes, Anne-Laure Bedat-Millet, Anthony Behin, Remi Bellance, Françoise Bouhour, Celia Boutte, François Boyer, Emmanuelle Campana-Salort, Françoise Chapon, Pascal Cintas, Claude Desnuelle, Romain Deschamps, Valerie Drouin-Garraud, Xavier Ferrer, Helene Gervais-Bernard, Karima Ghorab, Pascal Laforet, Armelle Magot, Laurent Magy, Dominique Menard, Marie-Christine Minot, Aleksandra Nadaj-Pakleza, Sybille Pellieux, Yann Pereon, Marguerite Preudhomme, Jean Pouget, Sabrina Sacconi, Guilhem Sole, Tanya Stojkovich, Vincent Tiffreau, Andoni Urtizberea, Christophe Vial, Fabien Zagnoli, Gilbert Caranhac, Claude Bourlier, Gerard Riviere, Alain Geille, Romain K Gherardi, Bruno Eymard, Jack Puymirat, Sandrine Katsahian, Guillaume Bassez
المصدر: PLoS ONE, Vol 11, Iss 2, p e0148264 (2016)
العلاقة: http://europepmc.org/articles/PMC4744025?pdf=renderTest; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/cf83b8ab743c4b25aa7cfa3285289205Test
الإتاحة: https://doi.org/10.1371/journal.pone.0148264Test
https://doaj.org/article/cf83b8ab743c4b25aa7cfa3285289205Test -
9
المؤلفون: Antoine Pegat, Emilien Delmont, Juliette Svahn, Emilien Bernard, Lola Lessard, Romain Marignier, Francoise Bouhour
المصدر: Neurology - Neuroimmunology Neuroinflammation. 9:e1160
مصطلحات موضوعية: Immunoglobulin M, Neurology, Humans, Neurology (clinical), Nervous System Malformations, Demyelinating Diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2249706cf938f73f25f094e2975646dTest
https://doi.org/10.1212/nxi.0000000000001160Test -
10دورية أكاديمية
المؤلفون: Maria Ceprian, Raul Juntas-Morales, Graham Campbell, Ulrike Walther-Louvier, François Rivier, William Camu, Florence Esselin, Andoni Echaniz-Laguna, Tanya Stojkovic, Françoise Bouhour, Philippe Latour, Nicolas Tricaud
المصدر: International Journal of Molecular Sciences, Vol 25, Iss 8, p 4364 (2024)
مصطلحات موضوعية: CMT4G, mitochondria, Hexokinase I, VDAC, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/25/8/4364Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test