Fondation Jérôme-Lejeune

Recent papers from Fondation Jérôme-Lejeune

1. Natural history and clinical impact of epilepsy in adults with Down syndrome: a multicentre clinical studyThe Lancet · 2026
2. Genetic carrier frequency in genes involved in inborn errors of immunity in the lebanese populationScientific Reports · 2026
3. Promoting Research Excellence in Down Syndrome: Proceedings of the 5th International Conference of the Trisomy 21 Research SocietyNeuroMolecular Medicine · 2026
4. Understanding Obesity in Individuals with Down Syndrome: Caregiver Perceptions, Awareness, and MotivationNutrients · 2026
5. Caregiver-Associated Physical Activity Patterns, Dietary Behaviors and Interventional Beliefs in Individuals with Down Syndrome: Insights from a Large European SurveyNutrients · 2026
6. Lifestyle intervention and cognitive outcomes in Down syndrome: a horizon 21 European Down syndrome consortium scoping reviewJournal of Neurodevelopmental Disorders · 2026
7. Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophyJournal of Neuromuscular Diseases · 2026
8. Down Syndrome and Obesity Management: Lifestyle Observations Made in the Framework of the GO-DS21 Project and Clinical RecommendationsNutrients · 2026
9. Dietary Patterns and Lifestyle Factors as Determinants of Body Mass Index and Body Composition in Individuals with Down Syndrome—A Study Across Three Clinical SitesNutrients · 2026
10. Factors impacting survival in individuals with Down syndrome‐associated Alzheimer's diseaseAlzheimer s & Dementia · 2026
11. Bullae and Scales in a NewbornJEADV Clinical Practice · 2025
12. Recurrent nonsense p.Trp3416* variant in the DMD gene identified in healthy Lebanese individuals: Implications for variant classification and genotype-phenotype correlationsJournal of Neuromuscular Diseases · 2025
13. Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registryFrontiers in Genetics · 2025
14. Bi-allelic mutations in KCTD11 cause a new form of autosomal recessive intermediate Charcot-Marie-Tooth disease2025
15. Gut Microbial Similarity Analysis in Mono and Dizygotic Twins Discordant for Down SyndromeOBM Genetics · 2025
16. Impact of Alzheimer's disease on sleep in adults with Down syndromeAlzheimer s & Dementia · 2025
17. Investigating telomere length in progeroid syndromes: implications for aging disordersAging · 2025
18. Validation of the CAMCOG‐DS‐II, a neuropsychological test battery for Alzheimer's disease in people with Down syndrome: A Horizon 21 European Down syndrome Consortium studyAlzheimer s & Dementia · 2025
19. Imagine, Discover, Inspire: Proceedings of the 4th International Conference of the Trisomy 21 Research SocietyNeuroMolecular Medicine · 2025
20. Certain vs. uncertain actionable secondary findings in a cohort of 500 Lebanese participants: What to report to the patient?2025