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Frontiers in Human Neuroscience|January 9, 2014
Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD)Martha Spilioti, Athanasios E Evangeliou, Despoina Tramma, et al.
The Journal of Clinical Investigation|February 3, 2011
Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delayMiao He, Lisa E Kratz, Joshua J Michel, et al.
Clinical Immunology (Orlando, Fla.)|June 6, 2021
Farnesol induces protection against murine CNS inflammatory demyelination and modifies gut microbiomeLacey B Sell, Christina C Ramelow, Hannah M Kohl, et al.
Human Genetics|November 14, 2023
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variantsItay Tokatly Latzer, Jean-Baptiste Roullet, Samuele Cesaro, et al.
Research Square|July 28, 2023
Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 VariantsItay Tokatly Latzer, Jean-Baptiste Roullet, Samuele Cesaro, et al.
Human Genetics|December 1, 2005
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skippingPia Pinholt Madsen, Maria Kibaek, Xavier Roca, et al.
Investigative Ophthalmology & Visual Science|February 14, 2020
Vigabatrin-Induced Retinal Functional Alterations and Second-Order Neuron Plasticity in C57BL/6J MiceKore Chan, Mrinalini Hoon, Bikash R Pattnaik, et al.
Epilepsia|March 24, 2023
The presence and severity of epilepsy coincide with reduced γ-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiencyItay Tokatly Latzer, Mariarita Bertoldi, Melissa L DiBacco, et al.
Human Mutation|March 26, 2019
D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variantsAna Pop, Eduard A Struys, Erwin E W Jansen, et al.
Journal of Neurodevelopmental Disorders|April 24, 2024
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorderItay Tokatly Latzer, Jean-Baptiste Roullet, Wardiya Afshar-Saber, et al.
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