{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,3,22]],"date-time":"2023-03-22T05:14:39Z","timestamp":1679462079910},"reference-count":36,"publisher":"EDP Sciences","issue":"3","license":[{"start":{"date-parts":[[2023,3,21]],"date-time":"2023-03-21T00:00:00Z","timestamp":1679356800000},"content-version":"vor","delay-in-days":20,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Med Sci (Paris)"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:p>Les \u00e9tudes g\u00e9n\u00e9tiques portant sur le syndrome n\u00e9phrotique (SN) h\u00e9r\u00e9ditaire ont permis d\u2019identifier plus de 60 g\u00e8nes impliqu\u00e9s dans le d\u00e9veloppement de formes monog\u00e9niques de SN cortico-r\u00e9sistant, isol\u00e9 ou syndromique, ce dernier \u00e9tant parfois associ\u00e9 \u00e0 des troubles neurologiques. Au cours des derni\u00e8res d\u00e9cennies, diverses \u00e9tudes ont \u00e9tabli des liens entre la physiologie des podocytes et celle des neurones, tant sur le plan morphologique (diaphragme de fente et synapse) que fonctionnel (plateformes de signalisation). Des variants dans des g\u00e8nes codant des prot\u00e9ines s\u2019exprimant dans diff\u00e9rents compartiments du podocyte et des neurones sont responsables de ph\u00e9notypes associant des l\u00e9sions r\u00e9nales avec prot\u00e9inurie \u00e0 des troubles neurologiques centraux et\/ou p\u00e9riph\u00e9riques. L\u2019objectif de cette revue est de se concentrer sur les syndromes g\u00e9n\u00e9tiques associant une prot\u00e9inurie et une atteinte neurologique et de pr\u00e9senter les derni\u00e8res avanc\u00e9es dans la description de ces troubles neuro-r\u00e9naux.<\/jats:p>","DOI":"10.1051\/medsci\/2023029","type":"journal-article","created":{"date-parts":[[2023,3,21]],"date-time":"2023-03-21T09:02:31Z","timestamp":1679389351000},"page":"246-252","source":"Crossref","is-referenced-by-count":0,"title":["Atteinte neurologique et syndrome n\u00e9phrotique cortico-r\u00e9sistant"],"prefix":"10.1051","volume":"39","author":[{"given":"Olivia","family":"Boyer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00e9raldine","family":"Mollet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guillaume","family":"Dorval","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"250","published-online":{"date-parts":[[2023,3,21]]},"reference":[{"key":"R1","doi-asserted-by":"crossref","first-page":"3166","DOI":"10.1681\/ASN.2017020143","volume":"28","author":"Schell","year":"2017","journal-title":"J Am Soc Nephrol JASN"},{"key":"R2","doi-asserted-by":"crossref","unstructured":"Grahammer F, Wigge C, Schell C, et al. 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