Results 221 to 230 of about 125,088 (254)

Associations between plasma 24(S)-hydroxycholesterol and neuropsychological profile in fragile X syndrome. [PDF]

J Lipid Res
Laroui A, Rojas D, Bouhour S, Proteau-Lemieux M, Galarneau L, Benachenhou S, Abolghasemi A, Plantefeve R, Mallet PL, Corbin F, Lepage JF, Çaku A.   +11 more
europepmc   +1 more source

Combined Treatment with Minocycline and an mGluR5 Antagonist Alters Resting EEG Spectral Power, but Not Sound-Evoked Responses, in a Mouse Model of Fragile X Syndrome. [PDF]

ASN Neuro
Kassir MH, Lovelace JW, Binder DK, Ethell IE, Razak KA.   +4 more
europepmc   +1 more source

How close are we to a cAMP- and cGMP-theory-based pharmacological therapy for fragile X syndrome? [PDF]

Cell Rep Med
Bardoni B, Gwizdek C, Maurin T.
europepmc   +1 more source

Interaction between neuromuscular junction metabolic requirements in fragile X syndrome and glycogen storage disease models.

Dis Model Mech
Gurijala A, Rushton E, Leahy SN, Nelson N, Tessier CR, Broadie K.   +5 more
europepmc   +1 more source

From Discovery to Innovative Translational Approaches in 80 Years of Fragile X Syndrome Research. [PDF]

Biomedicines
van der Lei MB, Kooy RF.
europepmc   +1 more source

Long-term safety and tolerability of transdermal cannabidiol gel in children and adolescents with Fragile X syndrome (ZYN2-CL-017): an interim analysis of an ongoing open-label extension study. [PDF]

J Neurodev Disord
Berry-Kravis E, Hagerman R, Cohen J, Budimirovic D, Buchanan CB, Silove N, Tich N, Thibodeau A, Dobbins T, Sebree T, O'Quinn S, Albers DS, Bzdek KG, Nomikos G, Budur K.   +14 more
europepmc   +1 more source

FMR1 KH0-KH1 Domains Coordinate m6A Binding and Phase Separation in Fragile X Syndrome

Zhou X, Guo C, Wang R, Li Y, Zhang T, Qiu Z, Gao S, Liu J, Gao Y.   +8 more
europepmc   +1 more source

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Fragile X Syndrome

Pediatrics In Review, 2005
AbstractFragile X syndrome, the most common genetic disorder associated with mental retardation is caused by an expansion of the unstable CGG repeat within the FMR1 gene. Although overgrowth is not the main hallmark of this condition, the fragile X syndrome is usually included in the differential diagnosis of children with mental retardation and excess
Alessandra, Terracciano, Pietro, Chiurazzi, Giovanni, Neri   +2 more
  +7 more sources

Fragile X syndrome

The Indian Journal of Pediatrics, 1998
Fragile X syndrome is the most common familial form of mental retardation. This X-linked disorder affects one in every 1000 males and one in every 2000 females. The female carrier rate in the general population is estimated to be 1/600. A fragile site at the distal long arm of the X chromosome (Xq 27.3) is the hallmark cytogenetic feature of the ...
J P, Phillips, G A, Wilson
openaire   +4 more sources