{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T08:57:31Z","timestamp":1764320251433,"version":"3.46.0"},"reference-count":10,"publisher":"EDP Sciences","license":[{"start":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T00:00:00Z","timestamp":1764288000000},"content-version":"vor","delay-in-days":27,"URL":"https:\/\/www.edpsciences.org\/en\/authors\/copyright-and-licensing"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Med Sci (Paris)"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:p>Michel Fardeau (1929-2024) fut le pionnier incontest\u00e9 de la myologie en France, reconnu mondialement pour ses travaux fondamentaux sur les myopathies cong\u00e9nitales et les dystrophies musculaires. Sp\u00e9cialiste \u00e9minent des maladies neuromusculaires, il a d\u00e9crit plusieurs formes majeures de pathologies, notamment les cardiomyopathies \u00e0 surcharge de desmine, ainsi que les myopathies li\u00e9es \u00e0 des d\u00e9ficits en sarcoglycanes, m\u00e9rosine et calpa\u00efne-3. Ces d\u00e9couvertes ont apport\u00e9 des contributions d\u00e9terminantes \u00e0 la classification, la compr\u00e9hension physiopathologique et l\u2019orientation diagnostique de ces affections. Il est \u00e9galement \u00e0 l\u2019origine des premiers essais cliniques en th\u00e9rapie g\u00e9nique chez des patients atteints de dystrophie musculaire de Duchenne, ouvrant ainsi une nouvelle \u00e8re th\u00e9rapeutique dans le domaine des maladies neuromusculaires. Sa d\u00e9marche scientifique, m\u00ealant une approche morphologique, biochimique et clinique, a r\u00e9volutionn\u00e9 non seulement le diagnostic, mais aussi la prise en charge m\u00e9dicale de ces maladies. Son \u0153uvre constitue une r\u00e9f\u00e9rence incontournable \u00e0 l\u2019\u00e9chelle internationale, qui continue d\u2019inspirer chercheurs, cliniciens et acteurs du soin.<\/jats:p>","DOI":"10.1051\/medsci\/2025196","type":"journal-article","created":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T08:52:58Z","timestamp":1764319978000},"page":"82-84","source":"Crossref","is-referenced-by-count":0,"special_numbering":"Hors s\u00e9rie n\u00b0 2","title":["Michel Fardeau, une vie d\u00e9di\u00e9e \u00e0 la myologie et \u00e0 ses innovations"],"prefix":"10.1051","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0172-330X","authenticated-orcid":false,"given":"St\u00e9phane","family":"Vassilopoulos","sequence":"first","affiliation":[{"name":"Sorbonne Universit\u00e9, Inserm, Institut de Myologie, Centre de Recherche en Myologie","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicolas","family":"Vignier","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Inserm, Institut de Myologie, Centre de Recherche en Myologie","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"250","published-online":{"date-parts":[[2025,11,28]]},"reference":[{"key":"R1","first-page":"411","volume":"134","author":"Fardeau","year":"1978","journal-title":"Rev Neurol. (Paris)"},{"key":"R2","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1016\/j.nmd.2008.06.367","volume":"18","author":"Claeys","year":"2008","journal-title":"Neuromuscul Disord."},{"issue":"Pt 1","key":"R3","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1093\/brain\/119.1.295","volume":"119","author":"Fardeau","year":"1996","journal-title":"Brain"},{"key":"R4","first-page":"351","volume":"317","author":"Tom\u00e9","year":"1994","journal-title":"C R Acad Sci III"},{"key":"R5","first-page":"799","volume":"316","author":"Fardeau","year":"1993","journal-title":"C R Acad Sci III"},{"key":"R6","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.1212\/WNL.48.5.1227","volume":"48","author":"Eymard","year":"1997","journal-title":"Neurology"},{"key":"R7","doi-asserted-by":"crossref","first-page":"1484","DOI":"10.1212\/01.WNL.0000124388.67003.56","volume":"62","author":"Jeannet","year":"2004","journal-title":"Neurology"},{"key":"R8","doi-asserted-by":"crossref","first-page":"1207","DOI":"10.1038\/ng1657","volume":"37","author":"Bitoun","year":"2005","journal-title":"Nat Genet."},{"key":"R9","doi-asserted-by":"crossref","first-page":"S52","DOI":"10.1016\/S0960-8966(02)00099-8","volume":"12","author":"Fardeau","year":"2002","journal-title":"Neuromuscul Disord."},{"key":"R10","doi-asserted-by":"crossref","first-page":"S45","DOI":"10.1016\/S0960-8966(02)00081-0","volume":"12","author":"Romero","year":"2002","journal-title":"Neuromuscul Disord."}],"container-title":["m\u00e9decine\/sciences"],"original-title":[],"link":[{"URL":"https:\/\/www.medecinesciences.org\/10.1051\/medsci\/2025196\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T08:53:48Z","timestamp":1764320028000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.medecinesciences.org\/10.1051\/medsci\/2025196"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11]]},"references-count":10,"alternative-id":["medsci250196s"],"URL":"https:\/\/doi.org\/10.1051\/medsci\/2025196","relation":{},"ISSN":["0767-0974","1958-5381"],"issn-type":[{"value":"0767-0974","type":"print"},{"value":"1958-5381","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11]]}}}