Publications by authors named "Jeffrey Neul"

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Natural history of epilepsy in FOXG1 Syndrome.
Caleb Rhodes, Benjamin Rees, Holly Dubbs, Mollie Lesser, Lucas Morgan, Jeffrey L Neul

Epilepsy Res· December 2025

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Trajectory of skill acquisition, loss, and regain in females with classic Rett syndrome.
Jeffrey L Neul, Timothy A Benke, Eric D Marsh, Sarika U Peters, Cary Fu

Res Sq· December 2025

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Shared Environment - Different Genes: Speech-Language Development in a Pair of Dizygotic Twins with and Without Mutation.
Sigrun Lang, Peter B Marschik, Zuzanna Laudańska, Bernd Wilken, Christian P Schaaf, Jeffrey L Neul

J Genet Psychol· November 2025

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Medical Biases and Misconceptions Impact Diagnoses in Males With Loss of Function MECP2 Variants.
Talia Thompson, Dennis Gurfinkel, Lori Silveira, Natalia Klamut, Kate Ferdinandsen, Jeffrey L Neul

Am J Med Genet A· October 2025

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Altered oscillatory coupling reflects possible inhibitory interneuron dysfunction in Rett syndrome.
Devorah Kranz, Yael Braverman, Michelle McCarthy, Claire Mackay, Karen N Sabol, Jeffrey L Neul

medRxiv· October 2025

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Finding buried genetic test results in the electronic health record is inefficient and variable across institutions.
Olivia J Veatch, Jomol Mathew, Shira Rockowitz, Dustin Baldridge, Alyssa Wetzel, Jeffrey L Neul

Ther Adv Rare Dis· July 2025

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Results from the phase 2/3 DAFFODIL study of trofinetide in girls aged 2-4 years with Rett syndrome.
Alan K Percy, Robin Ryther, Eric D Marsh, Jeffrey L Neul, Timothy A Benke

Med· June 2025

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Potentiation of group III metabotropic glutamate receptors positively affects neurophysiological features in a mouse model of Rett syndrome.
Hong-Wei Dong, Kelly Weiss, Jonathan W Dickerson, Mac J Meadows, Irene Zagol-Ikapitte, Jeffrey L Neul

J Pharmacol Exp Ther· June 2025

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Sleep Problems and Clinical Severity in Rett Syndrome.
Sarika U Peters, Cary Fu, Althea Robinson Shelton, Jeffrey L Neul, Beth Malow

J Child Neurol· June 2025

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MeCP2 prevents against sustained ketamine-induced synaptic depression at inhibitory synapses.
Michelle K Piazza, Abigael R Weit, Ege T Kavalali, Jeffrey L Neul, Lisa M Monteggia

iScience· June 2025

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Symptom Onset in Classic Rett Syndrome: Analysis of Initial Clinical Severity Scale Entries.
Alan K Percy, Jeffrey L Neul, Amitha Ananth, Timothy A Benke, Eric D Marsh

Ann Child Neurol Soc· June 2025

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Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Elisa Cali, Tania Quirin, Clarissa Rocca, Stephanie Efthymiou, Antonella Riva, Jeffrey L Neul

Genet Med· April 2025

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Publisher Correction: Rett syndrome.
Wendy A Gold, Alan K Percy, Jeffrey L Neul, Stuart R Cobb, Lucas Pozzo-Miller

Nat Rev Dis Primers· March 2025

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A randomized, placebo-controlled, cross-over trial of ketamine in Rett syndrome.
Kathleen Campbell, Jeffrey L Neul, David N Lieberman, Elizabeth Berry-Kravis, Tim A Benke

J Neurodev Disord· January 2025

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MECP2 Variants in Males: More Common than Previously Appreciated.
Amitha Ananth, Cary Fu, Jeffrey L Neul, Tim Benke, Eric Marsh

Pediatr Neurol· December 2024

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International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USA.
Jenny Downs, Dominique C Pichard, Walter E Kaufmann, Joseph P Horrigan, Melissa Raspa, Jeffrey L Neul

Trials· December 2024

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Testing the PEST hypothesis using relevant Rett mutations in MeCP2 E1 and E2 isoforms.
Ladan Kalani, Bo-Hyun Kim, Alberto Ruiz de Chavez, Anastasia Roemer, Anna Mikhailov, Jeffrey L Neul

Hum Mol Genet· November 2024

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

CNS Drugs· November 2024

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Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels.
Sameer S Bajikar, Yehezkel Sztainberg, Alexander J Trostle, Harini P Tirumala, Ying-Wooi Wan, Jeffrey L Neul

Hum Mol Genet· November 2024

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Rett syndrome.
Wendy A Gold, Alan K Percy, Jeffrey L Neul, Stuart R Cobb, Lucas Pozzo-Miller

Nat Rev Dis Primers· November 2024

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Trofinetide for the treatment of Rett syndrome: Long-term safety and efficacy results of the 32-month, open-label LILAC-2 study.
Alan K Percy, Jeffrey L Neul, Timothy A Benke, Elizabeth M Berry-Kravis, Daniel G Glaze

Med· October 2024

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Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey.
Walter E Kaufmann, Alan K Percy, Jeffrey L Neul, Jenny Downs, Helen Leonard

Orphanet J Rare Dis· August 2024

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Clinical Features and Disease Progression in Older Individuals with Rett Syndrome.
Jeffrey L Neul, Timothy A Benke, Eric D Marsh, Bernhard Suter, Cary Fu

Genes (Basel)· August 2024

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A clinical-translational review of sleep problems in neurodevelopmental disabilities.
Sarika U Peters, Althea Robinson Shelton, Beth A Malow, Jeffrey L Neul

J Neurodev Disord· July 2024

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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.
Damian May, Kalé Kponee-Shovein, Jeffrey L Neul, Alan K Percy, Malena Mahendran

J Neurodev Disord· July 2024

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