Correction: Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.

Autor: Runge K; INMED, INSERM, Aix-Marseille University, Marseille, France., Mathieu R; INMED, INSERM, Aix-Marseille University, Marseille, France., Bugeon S; IBDM, Aix-Marseille University, CNRS, UMR, Marseille, France., Lafi S; INMED, INSERM, Aix-Marseille University, Marseille, France.; IBDM, Aix-Marseille University, CNRS, UMR, Marseille, France., Beurrier C; IBDM, Aix-Marseille University, CNRS, UMR, Marseille, France., Sahu S; INMED, INSERM, Aix-Marseille University, Marseille, France., Schaller F; INMED, INSERM, Aix-Marseille University, Marseille, France., Loubat A; INMED, INSERM, Aix-Marseille University, Marseille, France., Herault L; TAGC INSERM U1090, Aix-Marseille University, Marseille, France., Gaillard S; Phenotype Expertise, 5 Boulevard du Maréchal Koenig, Marseille, France., Pallesi-Pocachard E; INMED, INSERM, Aix-Marseille University, Marseille, France., Montheil A; INMED, INSERM, Aix-Marseille University, Marseille, France., Bosio A; Miltenyi Biotec, Bergisch-Gladbach, Germany., Rosenfeld JA; Baylor College of Medicine, Houston, TX, USA., Hudson E; Cook Children's Clinical Genetics, Fort Worth, TX, USA., Lindstrom K; Division of genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ, USA., Mercimek-Andrews S; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB, Canada., Jeffries L; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands., Vanakker O; Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University and Ghent University Hospital, Ghent, Belgium., Van Hecke A; Department of Neurology, Queen Fabiola Children's University Hospital, Brussels, Belgium.; Université Libre de Bruxelles (ULB), Brussels, Belgium., Amrom D; Department of Neurology, Queen Fabiola Children's University Hospital, Brussels, Belgium.; Université Libre de Bruxelles (ULB), Brussels, Belgium.; Neuropediatric Unit, Kannerklinik, Centre Hospitalier de Luxembourg, Luxembourg, Grand-Duchy of Luxembourg, Luxembourg, Luxembourg., Küry S; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, Nantes, France.; INSERM, CNRS, UNIV Nantes, l'institut du thorax, Nantes, France., Ratner C; Hackensack University Medical Center, Hackensack, NJ, USA., Jethva R; Hackensack University Medical Center, Hackensack, NJ, USA., Gamble C; Cook Children's Clinical Genetics, Fort Worth, TX, USA., Jacq B; IBDM, Aix-Marseille University, CNRS, UMR, Marseille, France., Fasano L; IBDM, Aix-Marseille University, CNRS, UMR, Marseille, France., Santpere G; Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT, USA., Lorente-Galdos B; Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT, USA., Sestan N; Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT, USA., Gelot A; Trousseau Hospital, Paris, France., Giacuzz S; Trousseau Hospital, Paris, France., Goebbels S; Max-Planck-Institute of Experimental Medicine, Goettingen, Germany., Represa A; INMED, INSERM, Aix-Marseille University, Marseille, France., Cardoso C; INMED, INSERM, Aix-Marseille University, Marseille, France., Cremer H; IBDM, Aix-Marseille University, CNRS, UMR, Marseille, France., de Chevigny A; INMED, INSERM, Aix-Marseille University, Marseille, France. antoine.de-chevigny@inserm.fr.

Publikováno v: Molecular psychiatry [Mol Psychiatry] 2021 Dec; Vol. 26 (12), pp. 7852.

Exploring the Landscape of Pre- and Post-Synaptic Pediatric Disorders with Epilepsy: A Narrative Review on Molecular Mechanisms Involved.

Autor: Scorrano, Giovanna¹ (AUTHOR) scorranogiovanna10@gmail.com, Di Francesco, Ludovica² (AUTHOR) difrancesco.ludovica@gmail.com, Di Ludovico, Armando¹ (AUTHOR) armandodl@outlook.com, Chiarelli, Francesco¹ (AUTHOR) francesco.chiarelli@unich.it, Matricardi, Sara¹ (AUTHOR) sara.matricardi@unich.it

Publikováno v: International Journal of Molecular Sciences. Nov2024, Vol. 25 Issue 22, p11982. 25p.

A Comprehensive Approach to the Diagnosis of Leigh Syndrome Spectrum.

Autor: Baldo, Manuela Schubert^1,2 (AUTHOR) mmargaridacoelho.dca@chporto.min-saude.pt, Azevedo, Luísa^3,4 (AUTHOR) lazevedo@icbas.up.pt, Coelho, Margarida Paiva^2,3,5 (AUTHOR) esmeralda.dia@chporto.min-saude.pt, Martins, Esmeralda^2,3,5 (AUTHOR), Vilarinho, Laura^1,6 (AUTHOR) schubert.neuroped@gmail.com

Publikováno v: Diagnostics (2075-4418). Oct2024, Vol. 14 Issue 19, p2133. 11p.

Diagnostic challenges and outcome of fatty acid oxidation defects in a tertiary care center in Lebanon.

Autor: Daher, Rose T.¹ (AUTHOR), Taoum, Katia El² (AUTHOR), Samaha, Jinane³ (AUTHOR), Karam, Pascale E.^2,3 (AUTHOR) pk06@aub.edu.lb

Publikováno v: Orphanet Journal of Rare Diseases. 8/29/2024, Vol. 19 Issue 1, p1-9. 9p.

22q11.2 microduplication syndrome with associated esophageal atresia/tracheo-esophageal fistula and vascular ring.

Autor: Nguyen LT; Department of Pediatrics Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA., Fleishman R; Department of Pediatrics Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA., Flynn E; Department of Pediatrics Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA., Prasad R; Department of Medical Genetics and Surgery Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA., Moulick A; Department of Medical Genetics and Surgery Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA., Mesia CI; Department of Pediatrics Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA., Moyer S; Department of Medical Genetics and Surgery Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA., Jethva R; Department of Medical Genetics and Genomic Medicine Saint Peter's University Hospital New Brunswisk New Jersey USA.

Publikováno v: Clinical case reports [Clin Case Rep] 2017 Feb 11; Vol. 5 (3), pp. 351-356. Date of Electronic Publication: 2017 Feb 11 (Print Publication: 2017).