Results 1 to 10 of about 6,083,486 (156)

Knowledge, attitudes, and perspectives on gene therapy for Fragile X syndrome: results from two community and caregiver surveys [PDF]

Frontiers in Molecular Neuroscience
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism spectrum disorder, resulting from CGG trinucleotide repeat expansion in the FMR1 gene and consequent absence of Fragile X Messenger Ribonucleoprotein (FMRP).
Vivian Chen, Marisa Vomvos, Anna De Sonia, Hilary Rosselot, Reymundo Lozano, Reymundo Lozano, Reymundo Lozano   +6 more
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Fragile X Syndrome

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
doaj   +2 more sources

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, Kirsten Johnson, Jörg Richstein   +2 more
doaj   +1 more source

Fragile X Syndrome: Recent Research Updates toward Capturing Treatments’ Improvement in Clinical Trials

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
doaj   +1 more source

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, Jonathan Herring, Jörg Richstein   +2 more
doaj   +1 more source

FMR1 gene mutations cause neurodevelopmental-degenerative disorders: Importance of fragile X testing in Serbia [PDF]

Vojnosanitetski Pregled, 2016
nema
Budimirovic Dejan B., Protic Dragana
doaj   +1 more source

Drugs development and fragile X syndrome translational success story [PDF]

Medicinski Podmladak, 2016
nema
Budimirović Dejan, Protić Dragana
doaj   +1 more source

Repeated whole-cell patch-clamp recording from CA1 pyramidal cells in rodent hippocampal slices followed by axon initial segment labeling

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, Anna Sumera, Sam A. Booker   +2 more
doaj   +1 more source

Cardiovascular Problems in the Fragile X Premutation

Frontiers in Genetics, 2020
There is a dearth of information about cardiovascular problems in fragile X premutation carriers who have 55–200 CGG repeats in fragile X mental retardation 1 (FMR1) gene.
Nattaporn Tassanakijpanich, Nattaporn Tassanakijpanich, Jonathan Cohen, Rashelle Cohen, Uma N. Srivatsa, Randi J. Hagerman, Randi J. Hagerman   +6 more
doaj   +1 more source

Fragile X syndrome: Lessons learned from the most translated neurodevelopmental disorder in clinical trials

Translational Neuroscience, 2017
Fragile X syndrome (FXS) is the leading genetic cause of autism spectrum disorder (ASD) and inherited intellectual disability (ID) worldwide. Preclinical successes in understanding the biology of FXS have led to numerous translational attempts in human ...
Duy Phan Q., Budimirovic Dejan B.
doaj   +1 more source