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Brain : a Journal of Neurology|December 15, 2015
Amyloid-β dimers in the absence of plaque pathology impair learning and synaptic plasticityAndreas Müller-Schiffmann, Arne Herring, Laila Abdel-Hafiz, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
NDST1 missense mutations in autosomal recessive intellectual disabilityMiriam S Reuter, Luciana Musante, Hao Hu, et al.
Clinical Genetics|June 6, 2022
Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6Céline B Gerber, Anna Fliedner, Oliver Bartsch, et al.
Molecular Medicine (Cambridge, Mass.)|March 1, 2019
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypesAnaïs Begemann, Mario A Acuña, Markus Zweier, et al.
European Journal of Human Genetics : EJHG|December 23, 2022
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsyJohannes Luppe, Heinrich Sticht, François Lecoquierre, et al.
American Journal of Human Genetics|July 9, 2016
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive MicrocephalyMartin W Breuss, Tipu Sultan, Kiely N James, et al.
European Journal of Human Genetics : EJHG|November 10, 2020
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1Bart Appelhof, Matias Wagner, Julia Hoefele, et al.
Human Mutation|June 1, 2010
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expressionMarkus Zweier, Anne Gregor, Christiane Zweier, et al.
Pediatric Neurology|March 31, 2026
Truncating Variants in KIF5C Cause a Milder Disorder Distinct From KIF5C-Associated Cortical DysplasiaLuise Kulosik, Ina Schanze, Pia Zacher, et al.
Human Molecular Genetics|December 14, 2011
Variants in ASB10 are associated with open-angle glaucomaFrancesca Pasutto, Kate E Keller, Nicole Weisschuh, et al.
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