نتایج جستجو برای: fragile x syndrome

تعداد نتایج: 1201318  

Journal: :Intractable & Rare Diseases Research 2016

2015
Barry G. Saver Stephen A. Martin Ronald N. Adler Lucy M. Candib Konstantinos E. Deligiannidis Jeremy Golding Daniel J. Mullin Michele Roberts Stefan Topolski

‡ Barry Saver is the lead/corresponding author and wrote the initial draft. Stephen Martin is listed second as he contributed inspiration and major ideas for the manuscript. Ronald Adler is listed third as he provided substantially greater contributions to the ideas and editing of the manuscript than the remaining authors. The other authors are listed alphabetically as they all made roughly com...

Journal: :Intractable & rare diseases research 2014
Carolyn M Yrigollen Stefan Sweha Blythe Durbin-Johnson Lili Zhou Elizabeth Berry-Kravis Isabel Fernandez-Carvajal Sultana Mh Faradz Khaled Amiri Huda Shaheen Roberta Polli Luis Murillo-Bonilla Gabriel de Jesus Silva Arevalo Patricia Cogram Alessandra Murgia Flora Tassone

The CGG trinucleotide repeat within the FMR1 gene is associated with multiple clinical disorders, including fragile X-associated tremor/ataxia syndrome, fragile X-associated primary ovarian insufficiency, and fragile X syndrome. Differences in the distribution and prevalence of CGG repeat length and of AGG interruption patterns have been reported among different populations and ethnicities. In ...

Journal: :Neuron 2005
Gül Dölen Mark F. Bear

Fragile X syndrome is the most common heritable cause of mental retardation. Previous work has suggested that overactive signaling by group I metabotropic glutamate receptors (mGluRs) may be a mechanism underlying many of the disease symptoms. As a test of this theory, McBride et al. show that in a Drosophila model for Fragile X syndrome, treatment with mGluR antagonists can rescue short-term m...

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