Results 1 to 10 of about 90,115 (261)
Pediatric Neurology Briefs, 1987 Japanese patients with infantile autism were studied cytogenetically for the occurrence of fragile X (fra(x)) syndrome at the Universities of Kurume and Nagasaki.
J Gordon Millichap
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Pediatric Neurology Briefs, 1988 A characteristic epileptogenic EEG pattern is described in five of 12 male subjects with fragile-X syndrome evaluated at the Instituto Oasi, via C. Ruggero, Troina, Italy, and Clinica Neurologica, II Universita Roma and Bologna, Italy.
J Gordon Millichap
doaj +6 more sources
Fragile X syndrome and fragile X-associated disorders [version 1; referees: 2 approved] [PDF]
F1000Research, 2017 Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections;
Akash Rajaratnam +5 more
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The Use of “Retardation” in FRAXA, FMRP, FMR1 and Other Designations
Cells, 2022 The European Fragile X Network met in Wroclaw, Poland, November 2021, and agreed to work towards the eradication of the word “retardation” in regard to the naming of the fragile X gene (FRAXA) and protein (FMRP).
Jonathan Herring +2 more
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Brain Sciences, 2022 This Brain Sciences 2020 Special Issue of nine manuscripts contribute novel data on treatment updates in fragile X syndrome (FXS) [...]
Dejan B. Budimirovic, Dragana D. Protic
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Fragile X Premutation Associated Conditions (FXPAC)
Frontiers in Pediatrics, 2020 The European Fragile X Network (EFXN) proposes that Fragile X Premutation Associated Conditions (FXPAC) be adopted as a universal term covering any condition linked to the Fragile X premutation.
Kirsten Johnson +2 more
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FMR1 gene mutations cause neurodevelopmental-degenerative disorders: Importance of fragile X testing in Serbia [PDF]
Vojnosanitetski Pregled, 2016 nema
Budimirovic Dejan B., Protic Dragana
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Colombia medica (Cali, Colombia), 2014 Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the fragile X mental retardation 1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter therefore silencing it and lowering the expression levels of the fragile X mental retardation 1, a ...
Saldarriaga, Wilmar +5 more
openaire +4 more sources
Drugs development and fragile X syndrome translational success story [PDF]
Medicinski Podmladak, 2016 nema
Budimirović Dejan, Protić Dragana
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STAR Protocols, 2021 Summary: This protocol allows repeated whole-cell patch-clamp recordings from individual rodent CA1 hippocampal neurons, followed by immunohistological labeling of the axon initial segment.
Laura S. Oliveira +2 more
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