Progress in Rett Syndrome: from discovery to clinical trials

por Percy, Alan K.
Publicado 2016

Variable phenotypic expression of a MECP2 mutation in a family

por Augenstein, Kimberly, Lane, Jane B., Horton, Antony, Schanen, Carolyn, Percy, Alan K.
Publicado 2009

MeCP2 in the regulation of neural activity: Rett syndrome pathophysiological perspectives

por Cuddapah, Vishnu Anand, Sinifunanya, Elvee Nwaobi, Percy, Alan K, Olsen, Michelle Lynne
Publicado 2015

A review of the Rett Syndrome Behaviour Questionnaire and its utilization in the assessment of symptoms associated with Rett syndrome

por Percy, Alan K., Neul, Jeffrey L., Benke, Timothy A., Marsh, Eric D., Glaze, Daniel G.
Publicado 2023

When Rett syndrome is due to genes other than MECP2

por Percy, Alan K., Lane, Jane, Annese, Fran, Warren, Hannah, Skinner, Steven A., Neul, Jeffrey L.
Publicado 2018

Hippocampal CA1 Pyramidal Neurons of Mecp2 Mutant Mice Show a Dendritic Spine Phenotype Only in the Presymptomatic Stage

por Chapleau, Christopher A., Boggio, Elena Maria, Calfa, Gaston, Percy, Alan K., Giustetto, Maurizio, Pozzo-Miller, Lucas
Publicado 2012

MeCP2 Deficiency Leads to Loss of Glial Kir4.1

por Kahanovitch, Uri, Cuddapah, Vishnu A., Pacheco, Natasha L., Holt, Leanne M., Mulkey, Daniel K., Percy, Alan K., Olsen, Michelle L.
Publicado 2018

Top Caregiver Concerns in Rett syndrome and related disorders: data from the US Natural History Study

por Neul, Jeffrey Lorenz, Benke, Timothy A., Marsh, Eric D., Suter, Bernhard, Silveira, Lori, Fu, Cary, Peters, Sarika U., Percy, Alan K.
Publicado 2023

Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study

por Neul, Jeffrey L., Benke, Timothy A., Marsh, Eric D., Suter, Bernhard, Silveira, Lori, Fu, Cary, Peters, Sarika U., Percy, Alan K.
Publicado 2023

Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings

por Neul, Jeffrey L., Skinner, Steven A., Annese, Fran, Lane, Jane, Heydemann, Peter, Jones, Mary, Kaufmann, Walter E., Glaze, Daniel G., Percy, Alan K.
Publicado 2020

From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2

por Sheikh, Taimoor I., Ausió, Juan, Faghfoury, Hannah, Silver, Josh, Lane, Jane B., Eubanks, James H., MacLeod, Patrick, Percy, Alan K., Vincent, John B.
Publicado 2016

Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na(+)-channel-blocking antiepileptic drugs

por Herrera, José A., Ward, Christopher S., Pitcher, Meagan R., Percy, Alan K., Skinner, Steven, Kaufmann, Walter E., Glaze, Daniel G., Wehrens, Xander H. T., Neul, Jeffrey L.
Publicado 2015

Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study

por Neul, Jeffrey L., Percy, Alan K., Benke, Timothy A., Berry-Kravis, Elizabeth M., Glaze, Daniel G., Marsh, Eric D., Lin, Tim, Stankovic, Serge, Bishop, Kathie M., Youakim, James M.
Publicado 2023

Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome

por Glaze, Daniel G., Neul, Jeffrey L., Kaufmann, Walter E., Berry-Kravis, Elizabeth, Condon, Sean, Stoms, George, Oosterholt, Sean, Della Pasqua, Oscar, Glass, Larry, Jones, Nancy E., Percy, Alan K.
Publicado 2019

Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome

por Ward, Christopher S., Huang, Teng-Wei, Herrera, José A., Samaco, Rodney C., Pitcher, Meagan R., Herron, Alan, Skinner, Steven A., Kaufmann, Walter E., Glaze, Daniel G., Percy, Alan K., Neul, Jeffrey L.
Publicado 2016

Multisystem comorbidities in classic Rett syndrome: a scoping review

por Fu, Cary, Armstrong, Dallas, Marsh, Eric, Lieberman, David, Motil, Kathleen, Witt, Rochelle, Standridge, Shannon, Lane, Jane, Dinkel, Tristen, Jones, Mary, Hale, Katie, Suter, Bernhard, Glaze, Daniel, Neul, Jeffrey, Percy, Alan, Benke, Timothy
Publicado 2020

Developmental delay in Rett syndrome: data from the natural history study

por Neul, Jeffrey L, Lane, Jane B, Lee, Hye-Seung, Geerts, Suzanne, Barrish, Judy O, Annese, Fran, Baggett, Lauren McNair, Barnes, Katherine, Skinner, Steven A, Motil, Kathleen J, Glaze, Daniel G, Kaufmann, Walter E, Percy, Alan K
Publicado 2014

Enrichment of mutations in chromatin regulators in people with Rett Syndrome lacking mutations in MECP2

por Sajan, Samin A., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R., Glaze, Daniel G., Kaufmann, Walter E., Skinner, Steven A., Anese, Fran, Friez, Michael J., Jane, Lane, Percy, Alan K., Neul, Jeffrey L.
Publicado 2016

Consensus guidelines on managing Rett syndrome across the lifespan

por Fu, Cary, Armstrong, Dallas, Marsh, Eric, Lieberman, David, Motil, Kathleen, Witt, Rochelle, Standridge, Shannon, Nues, Paige, Lane, Jane, Dinkel, Tristen, Coenraads, Monica, von Hehn, Jana, Jones, Mary, Hale, Katie, Suter, Bernhard, Glaze, Daniel, Neul, Jeffrey, Percy, Alan, Benke, Timothy
Publicado 2020

Comparison of evoked potentials across four related developmental encephalopathies

por Saby, Joni N., Peters, Sarika U., Benke, Timothy A., Standridge, Shannon M., Swanson, Lindsay C., Lieberman, David N., Olson, Heather E., Key, Alexandra P., Percy, Alan K., Neul, Jeffrey L., Nelson, Charles A., Roberts, Timothy P. L., Marsh, Eric D.
Publicado 2023