GEN1d
Fragile X Phenotypes Reversed in Mice by Targeting NMDA Receptors
MIT researchers suggests a potential molecular strategy for treating fragile X syndrome by enhancing NMDA subunit function.
Study suggests new molecular strategy for treating fragile X syndrome
Building on more than two decades of research, a study by MIT neuroscientists at The Picower Institute for Learning and ...
Hosted on MSN1mon
Everything you need to know about Fragile X syndrome
is concerned about the lack of awareness around Fragile X syndrome and about how common it is. “There is a surprising lack of awareness around Fragile X syndrome,” says Pete Richardson ...
Nature19d
Genotype–phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum
Purpose: Smith-Magenis syndrome (SMS) is a complex disorder ... Many of our patients were initially evaluated for Fragile X, DiGeorge, Down, or Prader-Willi syndromes, and the diagnosis of SMS ...
GlobalData on MSN9d
Spinogenix reports top line outcomes from trial of therapy for Fragile X syndrome
US-based biopharmaceutical company Spinogenix has published top line outcomes from a Phase II trial of SPG601 for treating ...
Medscape12d
Pharmacology and Genetics of Autism: Implications for Diagnosis and Treatment
Fragile X (fraX) and Rett syndromes capture many aspects of the autism spectrum disorders (ASD) phenotype and represent excellent models for the disease. Animal models of fraX and Rett syndromes ...
Nature13y
Expanded carrier screening and the law of unintended consequences: From cystic fibrosis to fragile X
These results confirm not only the rarity of the L997F allele but also its very low penetrance, essentially negligible if classic CF is taken as the at-risk phenotype, which is the one that ...