Search Results - "Neul, Jeffrey. L."

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…”
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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…”
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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…”
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A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Rett Syndrome by Glaze, Daniel G., Neul, Jeffrey. L., Percy, Alan, Feyma, Tim, Beisang, Arthur, Yaroshinsky, Alex, Stoms, George, Zuchero, David, Horrigan, Joseph, Glass, Larry, Jones, Nancy E.

“…This study aimed to determine the safety and tolerability of trofinetide and to evaluate efficacy measures in adolescent and adult females with Rett syndrome,…”
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Mutual antagonism between Sox10 and NFIA regulates diversification of glial lineages and glioma subtypes by Glasgow, Stacey M, Zhu, Wenyi, Stolt, C Claus, Huang, Teng-Wei, Chen, Fuyi, LoTurco, Joseph J, Neul, Jeffrey L, Wegner, Michael, Mohila, Carrie, Deneen, Benjamin

“…Sox10 and Nuclear Factor I-A (NFIA) are transcriptional regulators of oligodendrocyte and astrocyte generation in the mammalian brain, respectively. This study…”
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Potentiation of the muscarinic acetylcholine receptor 1 modulates neurophysiological features in a mouse model of Rett syndrome by Dong, Hong-Wei, Weiss, Kelly, Baugh, Kathryn, Meadows, Mac J., Niswender, Colleen M., Neul, Jeffrey L.

“…Rett syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in the X chromosome-linked gene Methyl-CpG Binding Protein 2 (MECP2)…”
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Female Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies by Samaco, Rodney C, McGraw, Christopher M, Ward, Christopher S, Sun, Yaling, Neul, Jeffrey L, Zoghbi, Huda Y

“…Rett syndrome (RTT) is an X-linked neurological disorder caused by mutations in the gene encoding the transcriptional modulator methyl-CpG-binding protein 2…”
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Detection of neurophysiological features in female R255X MeCP2 mutation mice by Dong, Hong-Wei, Erickson, Kirsty, Lee, Jessica R., Merritt, Jonathan, Fu, Cary, Neul, Jeffrey L.

“…Rett syndrome (RTT) is a severe neurodevelopmental disorder (NDD) that is nearly always caused by loss of function mutations in Methyl-CpG-binding Protein 2…”
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Behavioral and brain anatomical analysis of Foxg1 heterozygous mice by Erickson, Kirsty R, Farmer, Rebekah, Merritt, Jonathan K, Miletic Lanaghan, Zeljka, Does, Mark D, Ramadass, Karthik, Landman, Bennett A, Cutting, Laurie E, Neul, Jeffrey L

“…FOXG1 Syndrome (FS) is a devastating neurodevelopmental disorder that is caused by a heterozygous loss-of-function (LOF) mutation of the FOXG1 gene, which…”
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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…”
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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…”
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Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities by Samaco, Rodney C, Mandel-Brehm, Caleigh, Chao, Hsiao-Tuan, Ward, Christopher S, Fyffe-Maricich, Sharyl L, Ren, Jun, Hyland, Keith, Thaller, Christina, Maricich, Stephen M, Humphreys, Peter, Greer, John J, Percy, Alan, Glaze, Daniel G, Zoghbi, Huda Y, Neul, Jeffrey L

“…Rett syndrome (RTT) is characterized by specific motor, cognitive, and behavioral deficits. Because several of these abnormalities occur in other disease…”
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A clinical-translational review of sleep problems in neurodevelopmental disabilities by Peters, Sarika U, Shelton, Althea Robinson, Malow, Beth A, Neul, Jeffrey L

“…Sleep disorders are very common across neurodevelopmental disorders and place a large burden on affected children, adolescents, and their families. Sleep…”
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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…”
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The Changing Face of Survival in Rett Syndrome and  MECP2 -Related Disorders by Tarquinio, Daniel C., DO, Hou, Wei, PhD, Neul, Jeffrey L., MD, PhD, Kaufmann, Walter E., MD, PhD, Glaze, Daniel G., MD, Motil, Kathleen J., MD, PhD, Skinner, Steven A., MD, Lee, Hye-Seung, PhD, Percy, Alan K., MD

“…Abstract Purpose Survival in Rett syndrome remains unclear. Although early estimates were grim, more recent data suggest that survival into adulthood is…”
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Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders by Meng, Xiangling, Wang, Wei, Lu, Hui, He, Ling-Jie, Chen, Wu, Chao, Eugene S, Fiorotto, Marta L, Tang, Bin, Herrera, Jose A, Seymour, Michelle L, Neul, Jeffrey L, Pereira, Fred A, Tang, Jianrong, Xue, Mingshan, Zoghbi, Huda Y

“…Many postnatal onset neurological disorders such as autism spectrum disorders (ASDs) and intellectual disability are thought to arise largely from disruption…”
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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…”
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Loss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome by Veeraragavan, Surabi, Wan, Ying-Wooi, Connolly, Daniel R, Hamilton, Shannon M, Ward, Christopher S, Soriano, Sirena, Pitcher, Meagan R, McGraw, Christopher M, Huang, Sharon G, Green, Jennie R, Yuva, Lisa A, Liang, Agnes J, Neul, Jeffrey L, Yasui, Dag H, LaSalle, Janine M, Liu, Zhandong, Paylor, Richard, Samaco, Rodney C

“…Mouse models of the transcriptional modulator Methyl-CpG-Binding Protein 2 (MeCP2) have advanced our understanding of Rett syndrome (RTT). RTT is a…”
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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…”
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Progressive Changes in a Distributed Neural Circuit Underlie Breathing Abnormalities in Mice Lacking MeCP2 by Huang, Teng-Wei, Kochukov, Mikhail Y, Ward, Christopher S, Merritt, Jonathan, Thomas, Kaitlin, Nguyen, Tiffani, Arenkiel, Benjamin R, Neul, Jeffrey L

“…Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Severe breathing abnormalities are common in…”
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