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RNF216 Variants Found in Patients With Dementia, Hypogonadotropic Hypogonadism, and Severe Ataxia Deregulate Autophagy

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Year: 2025
Type: article
Study design: Observational Study
Source: The Journal of Clinical Endocrinology & Metabolism
DOI: 10.1210/clinem/dgaf640
Authors: Jacques Young, Inès Abdennebi, Marion Le Saëc, Françoise Magnin, Larbi Amazit, Peter Kamenický, Luigi Maione, Jérôme Bouligand, Isabelle Beau
Institutions: Inserm, Université Paris-Saclay, Assistance Publique – Hôpitaux de Paris, Bicêtre Hospital, Physiologie et Physiopathlogie Endocriniennes, Institut Biomédical du Val de Bièvre
Language: English

Topic: Autophagy in Disease and Therapy
Subfield: Epidemiology
Field: Medicine
Domain: Health Sciences
SDG: Good health and well-being

Open Access status: closed

Funders: Institut National de la Santé et de la Recherche Médicale, Société Française d’Endocrinologie
OpenAlex ID: W4416554401
FWCI: 0.623
Cites: 34
Cited by: 1
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