Natural history and clinical impact of epilepsy in adults with Down syndrome: a multicentre clinical study
Lucía Maure-Blesa, María Carmona‐Iragui, Isabel Barroeta, Javier Arranz et autres
0 citationsThe Lancet
Fondation Jérôme-Lejeune
Paris · FR · nonprofit
261Publications signalées
14866Citations signalées
12Thèmes principaux
Principaux domaines
Down syndrome and intellectual disability researchGenetics and Neurodevelopmental DisordersGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesPrenatal Screening and DiagnosticsCongenital heart defects researchImmunodeficiency and Autoimmune DisordersConnective tissue disorders researchChronic Disease Management StrategiesDementia and Cognitive Impairment ResearchMitochondrial Function and PathologyDisability Rights and Representation
Évolution annuelle
Publications récentes
Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2 -related disorders
Giuliana Capece, Maria Francesca Di Feo, Evgeniya Melnik, Elena Dadali et autres
0 citationsBrain
Genetic carrier frequency in genes involved in inborn errors of immunity in the lebanese population
Cybel Mehawej, Eliane Chouery, Rita Al Kaddoum, Hilda Habib et autres
0 citationsScientific Reports
Promoting Research Excellence in Down Syndrome: Proceedings of the 5th International Conference of the Trisomy 21 Research Society
Fabio Di Domenico, Marzia Perluigi, Antonella Tramutola, Maria Giulia Bacalini et autres
0 citationsNeuroMolecular Medicine
Aminoacylase-1 Deficiency in a Lebanese Infant with a Novel Homozygous Variant
ANTOUN Christophe, MAALOUF George, SHAIB Mohamad, RACHKIDI Joseph et autres
0 citationsSVOA Paediatrics
Understanding Obesity in Individuals with Down Syndrome: Caregiver Perceptions, Awareness, and Motivation
Thomas Cahill, Valerie Nalesso, Pat Clarke, María Martínez de Lagrán et autres
0 citationsNutrients
Caregiver-Associated Physical Activity Patterns, Dietary Behaviors and Interventional Beliefs in Individuals with Down Syndrome: Insights from a Large European Survey
Thomas Cahill, Valerie Nalesso, Pat Clarke, María Martínez de Lagrán et autres
0 citationsNutrients
Lifestyle intervention and cognitive outcomes in Down syndrome: a horizon 21 European Down syndrome consortium scoping review
Eimear McGlinchey, Sarah Pape, Shahid H. Zaman, Jessica Eustace-Cook et autres
0 citationsJournal of Neurodevelopmental Disorders
Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophy
Stephany El-Hayek, Aboulfazl Rad, Sahar Sedighzadeh, Gozde Yesil et autres
0 citationsJournal of Neuromuscular Diseases
Consanguinity in the Lebanese population: knowledge, attitudes and practices
Éliane Chouery, José-Noël Ibrahim, Mary E. Deeb, Ali Sobh et autres
1 citationJournal of Community Genetics
Down Syndrome and Obesity Management: Lifestyle Observations Made in the Framework of the GO-DS21 Project and Clinical Recommendations
Maria Gomis-González, L. Chan, Anne Hiance-Delahaye, Mara Dierssen et autres
1 citationNutrients
GO-DS21_cross_sectional_survey
Thomas Cahill, Mara Dierssen, Yann Hérault, Pat Clarke et autres
0 citationsZenodo (CERN European Organization for Nuclear Research)
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