Results 121 to 130 of about 7,199,374 (204)

Matrix Metalloproteinase-9 and PeriNeuronal Nets as New Therapeutic Targets for Fragile X Syndrome (FXS)

Perineuronal nets (PNNs) are specialized forms of extracellular matrix that arise during development and control synaptic plasticity and functions. Overexpression of matrix metalloproteinases like MMP-9 degrades PNNs around GABAergic parvalbumin-positive (PV+) neurons in the developing auditory cortex (AC) of Fmr1KO mice.
Bertocchi Ilaria, Tempia Filippo, Hoxha Eriola, Oberto Alessandra, Luzzati Federico, Eva Carola, Nobile Veronica, Giuliani Lidia, Altieri Fabio, Tabolacci Elisabetta, Chiurazzi Pietro   +10 more
openaire   +1 more source

Altered GABA signalling in a mouse model of fragile X syndrome.

, 2007
The absence of fragile X mental retardation protein results in the fragile X syndrome (FXS), a common form of mental retardation associated with attention deficit, autistic behavior, and epileptic seizures. The phenotype of FXS is reproduced in fragile X
Papouin T, CURIA, GIULIA, Seguela P, Avoli M.   +3 more
core  

Am J Intellect Dev Disabil [PDF]

Using national data, we examined emergency department (ED) encounters during 2006-2011 for which a diagnosis code for fragile X syndrome (FXS) was present (| = 7,217).

core  

Mitochondrial Remodeling and Impaired Bioenergetics Define Neuronal Vulnerability in Fragile X-Related Disorders. [PDF]

Antioxidants (Basel)
Niccolini B, Grandi M, Nobile V, Pucci C, Boldrin F, Clementi ME, Bottoni P, Riente A, Chiurazzi P, Neri G, Genuardi M, Baracca A, Maulucci G, Tabolacci E, Giorgio V.   +14 more
europepmc   +1 more source

Simultaneous analysis of preimplantation genetic diagnosis (PGD) for fragile X syndrome (FXS) and array CGH (aCGH): advantages of selecting a PGD strategy with comprehensive diagnosis [PDF]

Fertility and Sterility, 2016
R. Prates, C. Racowsky, J.H. Fox, B. Chu, S. Munne   +4 more
openaire   +1 more source

Clinical Application of Long-Read Sequencing for FMR1 Gene Mutation Detection in Populations From Shandong, China. [PDF]

Mol Genet Genomic Med
Li Y, Hou F, Shan S, Peng Y, Jin H.
europepmc   +1 more source

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

Front Mol Neurosci
Chen V, Vomvos M, De Sonia A, Rosselot H, Lozano R.   +4 more
europepmc   +1 more source

Advancing Standardization in Fragile X Syndrome Molecular Diagnosis: A Dual-Structured and Scoping Review. [PDF]

Children (Basel)
Sallum BT, de Figueiredo MGC, Haddad MEO, Santos WS, Cordeiro ML.   +4 more
europepmc   +1 more source

Evolution of fragile X syndrome and neurodevelopmental disorders research: a Scopus-based bibliometric analysis. [PDF]

J Yeungnam Med Sci
Zakaria WNA, Yunus NM, Annuar AA, Aziz AAA, Musa N, Husain M, Rawi RM.   +6 more
europepmc   +1 more source

Comparing feedback learning and arousal responses in Down, Fragile X, and Williams syndromes. [PDF]

NPJ Sci Learn
Hallman AEZ, Willfors C, Frick MA, Nordgren A, Kleberg JL.   +4 more
europepmc   +1 more source