Search Results - "Bach, Snow"

Rett syndrome in Ireland: a demographic study by Zade, Komal, Campbell, Ciara, Bach, Snow, Fernandes, Hazel, Tropea, Daniela

“…Rett syndrome (RTT) is a rare neurodevelopmental condition associated with mutations in the gene coding for the methyl-CpG-binding protein 2 (MECP2). It is…”
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Methyl-CpG-binding protein 2 mediates overlapping mechanisms across brain disorders by Bach, Snow, Ryan, Niamh M., Guasoni, Paolo, Corvin, Aiden P., El-Nemr, Rania A., Khan, Danyal, Sanfeliu, Albert, Tropea, Daniela

“…MECP2 and its product, Methyl-CpG binding protein 2 (MeCP2), are mostly known for their association to Rett Syndrome (RTT), a rare neurodevelopmental disorder…”
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Rett Syndrome and Fragile X Syndrome: Different Etiology With Common Molecular Dysfunctions by Bach, Snow, Shovlin, Stephen, Moriarty, Michael, Bardoni, Barbara, Tropea, Daniela

“…Rett syndrome (RTT) and Fragile X syndrome (FXS) are two monogenetic neurodevelopmental disorders with complex clinical presentations. RTT is caused by…”
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Molecular Signatures of Response to Mecasermin in Children With Rett Syndrome by Shovlin, Stephen, Delepine, Chloe, Swanson, Lindsay, Bach, Snow, Sahin, Mustafa, Sur, Mriganka, Kaufmann, Walter E, Tropea, Daniela

“…Rett syndrome (RTT) is a devastating neurodevelopmental disorder without effective treatments. Attempts at developing targetted therapies have been relatively…”
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