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

العلاقة: https://www.mdpi.com/2073-4425/13/12/2245Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/61a1cdc3bf204edb968933896677a08fTest

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

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

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

الإتاحة: https://doi.org/10.3390/ijms21186807Test

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

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

المؤلفون: Sheela Sitaraman, Richard Roxburgh, Kristina Gutschmidt, Ela Stefanescu, Drago Bratkovic, Thomas Burrow, Kornblum Cornelia, Kristl Claeys, Miriam Freimer, Ozlem Goker-Alpan, Srilakshmi Kuchipudi, Alan Pestronk, Wolfgang Löscher, Francoise Bouhour, Maria Judit Molnar, Ans T. van der Ploeg, Halina Bartosik-Psujek, Mitchell Goldman, Robert D. Henderson, Stephanie Dearmey, Colin Quinn, Paula R. Clemens, Priya S. Kishnani, Jennifer B Avelar, Nicola Longo, Shahram Attarian, Robert Hopkin, Tomo Sawada, Blaž Koritnik, George Konstantinos Papadimas, Hideaki Shiraishi, Christopher Lindberg, Jin-Hong Shin, Ivaylo Tarnev, Tahseen Mozaffar, Heather Lau, Michel Tchan, Jozsef Janszky, Tobias Ruck, Sabrina Sacconi, Benedikt Schoser, Hashiguchi Akihiro, Patrick Deegan, Ernest Butler, Nuria Vidal-Fernandez, Antonio Toscano, Tarekegn Hiwot, Gee Kim, Emmanuelle Salort-Campana, Jeff Castelli, Pascal Laforet, Céline Tard, Crystal Eldridge, Aneal Khan, Stephan Wenninger, Simona Fecarotta, Jordi Díaz-Manera, Jorge Alonso-Pérez, Yin-Hsiu Chien, Mark Tarnopolsky, Olimpia Musumeci, Hiroshi Kobayashi, Helio Pedro, Jonathan Cauci, Agnes Sebok, Cynthia Bodkin, Hai Jiang, Julie Berthy, Vescei Laszlo, Derralynn Hughes, David Reyes-Leiva, Aleksandra Dominovic-Kovacevic, Mazen M. Dimachkie, Hernan Amartino, Hani Kushlaf, Barry J. Byrne, Giancarlo Parenti, Henning Andersen, Mark Roberts, Marie Wencel, Jaime Vengoechea

المساهمون: Schoser, B., Roberts, M., Byrne, B. J., Sitaraman, S., Jiang, H., Laforet, P., Toscano, A., Castelli, J., Diaz-Manera, J., Goldman, M., van der Ploeg, A. T., Bratkovic, D., Kuchipudi, S., Mozaffar, T., Kishnani, P. S., Sebok, A., Pestronk, A., Dominovic-Kovacevic, A., Khan, A., Koritnik, B., Tard, C., Lindberg, C., Quinn, C., Eldridge, C., Bodkin, C., Reyes-Leiva, D., Hughes, D., Stefanescu, E., SALORT-CAMPANA, E., Butler, E., Bouhour, F., Kim, G., Konstantinos Papadimas, G., Parenti, G., Bartosik-Psujek, H., Kushlaf, H., Akihiro, H., Lau, H., Pedro, H., Andersen, H., Amartino, H., Shiraishi, H., Kobayashi, H., Tarnev, I., Vengoechea, J., Avelar, J., Shin, J. -H., Cauci, J., Alonso-Perez, J., Janszky, J., Berthy, J., Cornelia, K., Gutschmidt, K., Claeys, K., Judit Molnar, M., Wencel, M., Tarnopolsky, M., Dimachkie, M., Tchan, M., Freimer, M., Longo, N., Vidal-Fernandez, N., Musumeci, O., Goker-Alpan, O., Deegan, P., Clemens, P. R., Roxburgh, R., Henderson, R., Hopkin, R., Sacconi, S., Fecarotta, S., Attarian, S., Wenninger, S., Dearmey, S., Hiwot, T., Burrow, T., Ruck, T., Sawada, T., Laszlo, V., Loscher, W., Chien, Y. -H., Pediatrics

المصدر: LANCET NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
The Lancet Neurology, 20(12), 1027-1037. Lancet Publishing Group
PROPEL Study Group 2021, ' Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL) : an international, randomised, double-blind, parallel-group, phase 3 trial ', The Lancet Neurology, vol. 20, no. 12, pp. 1027-1037 . https://doi.org/10.1016/S1474-4422Test(21)00331-8

مصطلحات موضوعية: education.field_of_study, medicine.medical_specialty, 1-Deoxynojirimycin, Adolescent, Glycogen Storage Disease Type II, business.industry, Population, alpha-Glucosidases, Enzyme replacement therapy, Placebo, Treatment Outcome, Double-Blind Method, SDG 3 - Good Health and Well-being, Internal medicine, Miglustat, medicine, Clinical endpoint, Humans, Respiratory function, Neurology (clinical), Adverse effect, education, business, Alglucosidase alfa, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ca8d17d8a65ecd5fd078c358714459bTest
https://doi.org/10.1016/s1474-4422Test(21)00331-8

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

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)

مصطلحات موضوعية: Medicine, Science

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

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