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Cell|June 6, 2015
PQBP1 Is a Proximal Sensor of the cGAS-Dependent Innate Response to HIV-1Sunnie M Yoh, Monika Schneider, Janna Seifried, et al.
Nature Genetics|March 13, 2002
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardationIlaria Meloni, Maddalena Muscettola, Martine Raynaud, et al.
Neurology|March 4, 2020
Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same timeEleni Panagiotakaki, Diane Doummar, Erika Nogue, et al.
American Journal of Medical Genetics. Part A|June 5, 2003
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 geneSuzanna G M Frints, Lin Jun, Jean-Pierre Fryns, et al.
European Journal of Medical Genetics|December 16, 2014
Molecular characterization of a cohort of 73 patients with infantile spasms syndromeNadia Boutry-Kryza, Audrey Labalme, Dorothee Ville, et al.
Brain : a Journal of Neurology|October 9, 2010
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complexNadia Bahi-Buisson, Karine Poirier, Nathalie Boddaert, et al.
Orphanet Journal of Rare Diseases|March 29, 2012
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patientLydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, et al.
Movement Disorders Clinical Practice|April 7, 2025
STARDEV Study: Neurodevelopmental Trajectory and Long-Term Outcomes of Patients with Startle Disease/HyperekplexiaDiane Pina, Agathe Roubertie, Marie-Aude Spitz, et al.
Journal of Medical Genetics|October 25, 2023
Further characterisation of <i>ARX</i>-related disorders in females due to inherited or de novo variantsMathilde Gras, Solveig Heide, Boris Keren, et al.
Nature Reviews. Drug Discovery|December 9, 2017
Drug development for neurodevelopmental disorders: lessons learned from fragile X syndromeElizabeth M Berry-Kravis, Lothar Lindemann, Aia E Jønch, et al.
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