Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study
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
Published in Nature medicine (01.06.2023)
Published in Nature medicine (01.06.2023)
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Journal Article
Rett syndrome: Revised diagnostic criteria and nomenclature
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.
Published in Annals of neurology (01.12.2010)
Published in Annals of neurology (01.12.2010)
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Journal Article
Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome
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
Published in Neurology (16.04.2019)
Published in Neurology (16.04.2019)
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Experimental models of Rett syndrome based on Mecp2 dysfunction
Calfa, Gaston, Percy, Alan K, Pozzo-Miller, Lucas
Published in Experimental biology and medicine (Maywood, N.J.) (01.01.2011)
Published in Experimental biology and medicine (Maywood, N.J.) (01.01.2011)
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Journal Article
The course of awake breathing disturbances across the lifespan in Rett syndrome
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.
Published in Brain & development (Tokyo. 1979) (01.08.2018)
Published in Brain & development (Tokyo. 1979) (01.08.2018)
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Journal Article
Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations
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
Published in Neurobiology of disease (01.08.2009)
Published in Neurobiology of disease (01.08.2009)
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Journal Article
Multisite Study of Evoked Potentials in Rett Syndrome
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.
Published in Annals of neurology (01.04.2021)
Published in Annals of neurology (01.04.2021)
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Journal Article
Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors
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
Published in Pediatric neurology (01.05.2017)
Published in Pediatric neurology (01.05.2017)
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Journal Article
The Changing Face of Survival in Rett Syndrome and MECP2 -Related Disorders
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
Published in Pediatric neurology (01.11.2015)
Published in Pediatric neurology (01.11.2015)
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Journal Article
Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome
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.
Published in Clinical genetics (01.05.2019)
Published in Clinical genetics (01.05.2019)
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Journal Article
Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey
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
Published in Orphanet journal of rare diseases (13.08.2024)
Published in Orphanet journal of rare diseases (13.08.2024)
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Journal Article
Bdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett-associated MECP2 mutations
Larimore, Jennifer L, Chapleau, Christopher A, Kudo, Shinichi, Theibert, Anne, Percy, Alan K, Pozzo-Miller, Lucas
Published in Neurobiology of disease (01.05.2009)
Published in Neurobiology of disease (01.05.2009)
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Journal Article
Development of trofinetide for the treatment of Rett syndrome: from bench to bedside
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
Published in Frontiers in pharmacology (22.01.2024)
Published in Frontiers in pharmacology (22.01.2024)
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Journal Article
Characterizing the journey of Rett syndrome among females in the United States: a real-world evidence study using the Rett syndrome natural history study database
May, Damian, Kponee-Shovein, Kalé, Neul, Jeffrey L., Percy, Alan K., Mahendran, Malena, Downes, Nathaniel, Chen, Grace, Watson, Talissa, Pichard, Dominique C., Kennedy, Melissa, Lefebvre, Patrick
Published in Journal of neurodevelopmental disorders (26.07.2024)
Published in Journal of neurodevelopmental disorders (26.07.2024)
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Journal Article
Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings
Neul, Jeffrey L, Skinner, Steven A, Annese, Fran, Lane, Jane, Heydemann, Peter, Jones, Mary, Kaufmann, Walter E, Glaze, Daniel G, Percy, Alan K
Published in Frontiers in integrative neuroscience (25.02.2020)
Published in Frontiers in integrative neuroscience (25.02.2020)
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Journal Article
Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome
Merritt, Jonathan K, Fang, Xiaolan, Caylor, Raymond C, Skinner, Steven A, Friez, Michael J, Percy, Alan K, Neul, Jeffrey L
Published in Genes (08.05.2024)
Published in Genes (08.05.2024)
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Journal Article
Comparison of evoked potentials across four related developmental encephalopathies
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
Published in Journal of neurodevelopmental disorders (04.03.2023)
Published in Journal of neurodevelopmental disorders (04.03.2023)
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Journal Article
Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder
Olson, Heather E, Daniels, Carolyn I, Haviland, Isabel, Swanson, Lindsay C, Greene, Caitlin A, Denny, Anne Marie M, Demarest, Scott T, Pestana-Knight, Elia, Zhang, Xiaoming, Moosa, Ahsan N, Fidell, Andrea, Weisenberg, Judith L, Suter, Bernhard, Fu, Cary, Neul, Jeffrey L, Percy, Alan K, Marsh, Eric D, Benke, Timothy A, Poduri, Annapurna
Published in Journal of neurodevelopmental disorders (01.12.2021)
Published in Journal of neurodevelopmental disorders (01.12.2021)
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Journal Article
Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study
Neul, Jeffrey L, Benke, Timothy A, Marsh, Eric D, Suter, Bernhard, Silveira, Lori, Fu, Cary, Peters, Sarika U, Percy, Alan K
Published in Journal of neurodevelopmental disorders (13.10.2023)
Published in Journal of neurodevelopmental disorders (13.10.2023)
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Journal Article
Clinical Features and Disease Progression in Older Individuals with Rett Syndrome
Neul, Jeffrey L, Benke, Timothy A, Marsh, Eric D, Suter, Bernhard, Fu, Cary, Ryther, Robin C, Skinner, Steven A, Lieberman, David N, Feyma, Timothy, Beisang, Arthur, Heydemann, Peter, Peters, Sarika U, Ananth, Amitha, Percy, Alan K
Published in Genes (01.08.2024)
Published in Genes (01.08.2024)
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