Search Results - "Percy, K"

Rett Syndrome: The Emerging Landscape of Treatment Strategies by Percy, Alan K., Ananth, Amitha, Neul, Jeffrey L.

“…Rett syndrome (RTT) has enjoyed remarkable progress in achieving specific therapies. RTT, a unique neurodevelopmental disorder first described in 1966,…”
Get full text

Learning-induced reorganization of number neurons and emergence of numerical representations in a biologically inspired neural network by Mistry, Percy K., Strock, Anthony, Liu, Ruizhe, Young, Griffin, Menon, Vinod

“…Number sense, the ability to decipher quantity, forms the foundation for mathematical cognition. How number sense emerges with learning is, however, not known…”
Get full text

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

“…Rett syndrome is a rare, genetic neurodevelopmental disorder. Trofinetide is a synthetic analog of glycine–proline–glutamate, the N-terminal tripeptide of the…”
Get full text

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

“…OBJECTIVETo determine safety, tolerability, and pharmacokinetics of trofinetide and evaluate its efficacy in female children/adolescents with Rett syndrome…”
Get full text

Rett syndrome: Revised diagnostic criteria and nomenclature by Jeffrey L. Neul, Kaufmann, Walter E., Glaze, Daniel G., Christodoulou, John, Clarke, Angus J., Bahi-Buisson, Nadia, Leonard, Helen, Bailey, Mark E. S., Schanen, N. Carolyn, Zappella, Michele, Renieri, Alessandra, Huppke, Peter, Percy, Alan K.

“…Objective Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations…”
Get full text

A Neurodevelopmental Shift in Reward Circuitry from Mother's to Nonfamilial Voices in Adolescence by Abrams, Daniel A, Mistry, Percy K, Baker, Amanda E, Padmanabhan, Aarthi, Menon, Vinod

“…The social worlds of young children primarily revolve around parents and caregivers, who play a key role in guiding children's social and cognitive…”
Get full text

Experimental models of Rett syndrome based on Mecp2 dysfunction by Calfa, Gaston, Percy, Alan K, Pozzo-Miller, Lucas

“…Rett syndrome (RTT) is a neurodevelopmental disorder predominantly occurring in females with an incidence of 1:10,000 births and caused by sporadic mutations…”
Get more information

S100A12 as a marker of worse cardiac output and mortality in pulmonary hypertension by Tzouvelekis, Argyrios, Herazo‐Maya, Jose D., Ryu, Changwan, Chu, Jen‐Hwa, Zhang, Yingze, Gibson, Kevin F., Adonteng‐Boateng, Percy K., Li, Qin, Pan, Hongyi, Cherry, Benjamin, Ahmad, Ferhaan, Ford, Hubert J., Herzog, Erica L., Kaminski, Naftali, Fares, Wassim H.

“…ABSTRACT Background and objective Molecular biomarkers are needed to refine prognostication and phenotyping of pulmonary hypertension (PH) patients. S100A12 is…”
Get full text

Space wandering in the rodent default mode network by Nghiem, Trang-Anh Estelle, Lee, Byeongwook, Chao, Tzu-Hao Harry, Branigan, Nicholas K, Mistry, Percy K, Shih, Yen-Yu Ian, Menon, Vinod

“…The default mode network (DMN) is a large-scale brain network known to be suppressed during a wide range of cognitive tasks. However, our comprehension of its…”
Get full text

Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors by Killian, John T., MD, Lane, Jane B., RN, BSN, Lee, Hye-Seung, PhD, Skinner, Steve A., MD, Kaufmann, Walter E., MD, Glaze, Daniel G., MD, Neul, Jeffrey L., MD, PhD, Percy, Alan K., MD

“…Abstract Background Scoliosis is prominent in Rett syndrome (RTT). Following the prior report from the US Natural History Study, the onset and progression of…”
Get full text

Experiences of keratoconus patients attending public eye care facilities in South Africa by Nkoana, Pheagane M.W., Mashige, Percy K., Moodley, Vanessa R.

“…\r\nBackground\r\nKeratoconus (KC) is a progressive condition that usually affects young persons between their first and fourth decades. Myopia and irregular…”
Get full text

Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations by Chapleau, Christopher A, Calfa, Gaston D, Lane, Meredith C, Albertson, Asher J, Larimore, Jennifer L, Kudo, Shinichi, Armstrong, Dawna L, Percy, Alan K, Pozzo-Miller, Lucas

“…Abstract Rett syndrome (RTT) is an X chromosome-linked neurodevelopmental disorder associated with the characteristic neuropathology of dendritic spines common…”
Get full text

Multisite Study of Evoked Potentials in Rett Syndrome by Saby, Joni N., Benke, Timothy A., Peters, Sarika U., Standridge, Shannon M., Matsuzaki, Junko, Cutri‐French, Clare, Swanson, Lindsay C., Lieberman, David N., Key, Alexandra P., Percy, Alan K., Neul, Jeffrey L., Nelson, Charles A., Roberts, Timothy P.L., Marsh, Eric D.

“…Objective The aim of the current study was to evaluate the utility of evoked potentials as a biomarker of cortical function in Rett syndrome (RTT). As a number…”
Get full text

Pulmonary arterial hypertension in the setting of scleroderma is different than in the setting of lupus: A review by Bazan, Isabel S., Mensah, Kofi A., Rudkovskaia, Anastasiia A., Adonteng-Boateng, Percy K., Herzog, Erica L., Buckley, Lenore, Fares, Wassim H.

“…Pulmonary hypertension (PH) is a clinical syndrome that is subdivided into five groups per the World Health Organization (WHO) classification, based largely on…”
Get full text

The course of awake breathing disturbances across the lifespan in Rett syndrome by Tarquinio, Daniel C., Hou, Wei, Neul, Jeffrey L., Berkmen, Gamze Kilic, Drummond, Jana, Aronoff, Elizabeth, Harris, Jennifer, Lane, Jane B., Kaufmann, Walter E., Motil, Kathleen J., Glaze, Daniel G., Skinner, Steven A., Percy, Alan K.

“…Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder caused by mutations in MECP2, is associated with a peculiar breathing disturbance…”
Get full text

Advances in understanding ozone impact on forest trees: Messages from novel phytotron and free-air fumigation studies by Matyssek, R., Karnosky, D.F., Wieser, G., Percy, K., Oksanen, E., Grams, T.E.E., Kubiske, M., Hanke, D., Pretzsch, H.

“…Recent evidence from novel phytotron and free-air ozone (O 3) fumigation experiments in Europe and America on forest tree species is highlighted in relation to…”
Get full text

Development of trofinetide for the treatment of Rett syndrome: from bench to bedside by Kennedy, Melissa, Glass, Larry, Glaze, Daniel G, Kaminsky, Steve, Percy, Alan K, Neul, Jeffrey L, Jones, Nancy E, Tropea, Daniela, Horrigan, Joseph P, Nues, Paige, Bishop, Kathie M, Youakim, James M

“…Rett syndrome (RTT) is rare neurodevelopmental disorder caused by mutations in the gene that encodes methyl-CpG-binding protein 2 (MeCP2), a DNA-binding…”
Get full text

Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome by Peters, Sarika U., Fu, Cary, Suter, Bernhard, Marsh, Eric, Benke, Timothy A., Skinner, Steve A., Lieberman, David N., Standridge, Shannon, Jones, Mary, Beisang, Arthur, Feyma, Timothy, Heydeman, Peter, Ryther, Robin, Kaufmann, Walter E., Glaze, Daniel G., Neul, Jeffrey L., Percy, Alan K.

“…Individuals with methyl CpG binding protein 2 (MECP2) duplication syndrome (MDS) have varying degrees of severity in their mobility, hand use, developmental…”
Get full text

Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey by Kaufmann, Walter E, Percy, Alan K, Neul, Jeffrey L, Downs, Jenny, Leonard, Helen, Nues, Paige, Sharma, Girish D, Bartolotta, Theresa E, Townend, Gillian S, Curfs, Leopold M G, Mariotti, Orietta, Buda, Claude, O'Leary, Heather M, Oberman, Lindsay M, Vogel-Farley, Vanessa, Barnes, Katherine V, Missling, Christopher U

“…Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairments. Previous studies have shown challenges to…”
Get full text

A Multinomial Processing Tree Model of the 2-back Working Memory Task by Lee, Michael D., Mistry, Percy K., Menon, Vinod

“…The n -back task is a widely used behavioral task for measuring working memory and the ability to inhibit interfering information. We develop a novel model of…”
Get full text