Felippe Borlot, Robyn Whitney, Ronald D. Cohn, Shelly K. Weiss March 22, 2019

MEF2C haploinsufficiency has been described in the literature over the past decade, with the majority of patients harbouring 5q14.3 microdeletions (MIM# 613443, mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations) [1]. These patients typically present with severely impaired expressive language, gross motor delay and epilepsy.2 The phenotype may resemble Rett’s syndrome in some cases, with stereotypic behaviour, particularly hand flapping, but no microcephaly or neuroregression [3].… Read More...

Bernhard J. Steinhoff, Elisabeth Hübers, Christoph Kurth, Uta Jürges March 22, 2019

The publisher regrets that there are some missing commas in some figures appearing in the abstract, the text and Table 1. This has now been corrected in the article. The errors were only made in an “ahead of print” version of the PDF and corrected prior to final publication.… Read More...

admin March 22, 2019

Abstract

Genome-wide association studies (GWAS) originally identified ATP-binding cassette, sub-family A, member 7 (ABCA7), as a novel risk gene of Alzheimer’s disease (AD). Since then, accumulating evidence from in vitro, in vivo, and human-based studies has corroborated and extended this association, promoting ABCA7 as one of the most important risk genes of both early-onset and late-onset AD, harboring both common and rare risk variants with relatively large effect on AD risk.… Read More...

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