Journal of Neurodevelopmental DisordersBackground Dysregulated endocannabinoid signaling is involved in Fragile X syndrome (FXS), suggesting a potential role for the endocannabinoid signaling modulator, cannabidiol, in treatment.
Elizabeth Berry-Kravis +14 more
doaj +1 more source
Voltage-independent SK-channel dysfunction causes neuronal hyperexcitability in the hippocampus of Fmr1 knock-out mice [PDF]
, 2019 Neuronal hyperexcitability is one of the major characteristics of fragile X syndrome (FXS), yet the molecular mechanisms of this critical dysfunction remain poorly understood. Here we report a major role of voltage-independent potassium (
Carlin, Dan +6 more
core +1 more source
Advanced Functional Materials, EarlyView.In this study, the interplay of dipolar dynamics and ionic charge transport in MOF compounds is investigated. Synthesizing the novel structure CFA‐25 with integrated freely rotating dipolar groups, local and macroscopic effects, including interactions with Cs cations are explored.
Ralph Freund +6 more
wiley +1 more source
Epilepsy and Fragile X Syndrome
Pediatric Neurology Briefs, 2003 The seizure history of 136 patients with fragile X syndrome (FXS), (age range 2 to 51 years; 113 males and 23 females), were reviewed at RUSH-Presbyterian-St Luke’s Medical Center, Chicago, IL.
J Gordon Millichap
doaj +1 more source
Different Clinical Faces of the Same Gene Mutation: Fragile X Mental Retardation 1 Disorders
Türk Nöroloji Dergisi, 2021 The fragile X mental retardation 1 gene located on the X-chromosome plays a role in protein synthesis of the same name (fragile X mental retardation protein).
Burcu Asma +2 more
doaj +1 more source
Characterization of Fragile X mental retardation antibodies for use in cross-species immunoblotting, immunohistochemistry, and electron microscopy [PDF]
, 2009 This information is provided on Cogprints for colleagues in the Fragile X field who have requested it directly in the past. It is also a companion work to the article “Human Fragile X gene locus P1 artificial chromosome transgenic mice” from our group ...
Bauchwitz, Dr. Robert
core
Advanced Functional Materials, EarlyView.The layer‐by‐layer (LbL) assembly of coordination solids, enabled by the surface‐mounted metal‐organic framework (SURMOF) platform, is on the cusp of generating the organic counterpart of the epitaxy of inorganics. The programmable and sequential SURMOF protocol, optimized by machine learning (ML), is suited for accessing high‐quality thin films of ...
Zhengtao Xu +2 more
wiley +1 more source
NEUROLOGICAL DISORDER AMONG PREMUTATION CARRIERS OF FRAGILE X SYNDROME AT SEMIN, GUNUNG KIDUL REGENCY [PDF]
, 2010 Background: Neurological disorder among male premutation carriers of Fragile X Syndrome (FXS) frequently occurs. In other hand, lacking of information results misdiagnosis of this disorder.
Ardiansyah, Rivaldi
core
Offering fragile X syndrome carrier screening: a prospective mixed-methods observational study comparing carrier screening of pregnant and non-pregnant women in the general population [PDF]
, 2013 Article focus▪ This article is a protocol of a study that involves offering fragile X syndrome carrier screening to pregnant and non-pregnant women in the general population.
Anderson, V. +14 more
core +1 more source
2D Multifunctional Spin‐Orbit Coupled Dirac Nodal Line Materials
Advanced Functional Materials, EarlyView.A total of 473 nonmagnetic and antiferromagnetic 2D spin‐orbit coupled Dirac nodal line materials are screened, spanning 5 layer groups and 12 magnetic space groups. Furthermore, it integrates their topological properties with electride, multiferroic, and magnetic characteristics, revealing unique systems with expanded functionalities and promising ...
Weizhen Meng +7 more
wiley +1 more source