Publications by authors named "Timothy Feyma"

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Chronic Striatal Cholinergic Interneuron Excitation Causes Cerebral Palsy-Related Dystonic Behavior in Mice.
Kat Gemperli, Xinguo Lu, Keerthana Chintalapati, Alyssa Rust, Rishabh Bajpai, Timothy Feyma

Ann Neurol· October 2025

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Using expert-cited features to detect leg dystonia in cerebral palsy.
Rishabh Bajpai, Alyssa Rust, Emma Lott, Susie Kim, Sushma Gandham, Timothy Feyma

medRxiv· 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, Timothy Feyma

Med· June 2025

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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, Timothy Feyma

Genes (Basel)· August 2024

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Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.
Jonna Komulainen-Ebrahim, Salla M Kangas, Estrella López-Martín, Timothy Feyma, Fernando Scaglia

Mov Disord Clin Pract· June 2024

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Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1.
Kelly Schoch, Allyn McConkie-Rosell, Nicole Walley, Vikas Bhambhani, Timothy Feyma

Orphanet J Rare Dis· September 2023

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GABRA1-Related Disorders: From Genetic to Functional Pathways.
Elisa Musto, Vivian W Y Liao, Katrine M Johannesen, Christina D Fenger, Damien Lederer, Timothy Feyma

Ann Neurol· August 2023

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Chronic striatal cholinergic interneuron excitation induces clinically-relevant dystonic behavior in mice.
Kat Gemperli, Xinguo Lu, Keerthana Chintalapati, Alyssa Rust, Rishabh Bajpai, Timothy Feyma

bioRxiv· July 2023

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Anodal Contralesional tDCS Enhances CST Excitability Bilaterally in an Adolescent with Hemiparetic Cerebral Palsy: A Brief Report.
Rodrigo G Delatorre, Ellen N Sutter, Samuel T Nemanich, Linda E Krach, Gregg Meekins, Timothy Feyma

Dev Neurorehabil· April 2023

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Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of .
Hannah C Happ, Lynette G Sadleir, Matthew Zemel, Guillem de Valles-Ibáñez, Michael S Hildebrand, Timothy Feyma

Neurology· February 2023

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Analysis of X-inactivation status in a Rett syndrome natural history study cohort.
Xiaolan Fang, Kameryn M Butler, Fatima Abidi, Jennifer Gass, Arthur Beisang, Timothy Feyma

Mol Genet Genomic Med· May 2022

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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Madelyn A Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Timothy Feyma

Genome Med· April 2021

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Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Sheng Chih Jin, Sara A Lewis, Somayeh Bakhtiari, Xue Zeng, Michael C Sierant, Timothy Feyma

Nat Genet· March 2021

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Phenotypic features in MECP2 duplication syndrome: Effects of age.
Sarika U Peters, Cary Fu, Eric D Marsh, Tim A Benke, Bernard Suter, Timothy Feyma

Am J Med Genet A· February 2021

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Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Sheng Chih Jin, Sara A Lewis, Somayeh Bakhtiari, Xue Zeng, Michael C Sierant, Timothy Feyma

Nat Genet· October 2020

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Associations Among Diurnal Salivary Cortisol Patterns, Medication Use, and Behavioral Phenotype Features in a Community Sample of Rett Syndrome.
Breanne J Byiers, Ameante Payen, Timothy Feyma, Angela Panoskaltsis-Mortari, Michael J Ehrhardt

Am J Intellect Dev Disabil· September 2020

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Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.
Gemma L Carvill, Katherine L Helbig, Candace T Myers, Marcello Scala, Robert Huether, Timothy Feyma

Hum Mutat· July 2020

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Correction to: Subdural hemorrhage rebleeding in abused children: frequency, associations and clinical presentation.
Jason N Wright, Timothy J Feyma, Gisele E Ishak, Sergey Abeshaus, James B Metz

Pediatr Radiol· July 2020

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Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions.
Zöe Powis, Meghan C Towne, Kelly D F Hagman, Kirsten Blanco, Erika Palmaer, Timothy J Feyma

Clin Genet· February 2020

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Preliminary Evidence That Resting State Heart Rate Variability Predicts Reactivity to Tactile Stimuli in Rett Syndrome.
Alyssa M Merbler, Breanne J Byiers, John Hoch, Adele C Dimian, Chantel C Barney, Timothy J Feyma

J Child Neurol· January 2020

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Evidence of altered salivary cytokine concentrations in Rett syndrome and associations with clinical severity.
Breanne J Byiers, Alyssa M Merbler, Chantel C Barney, Kristin A Frenn, Angela Panoskaltsis-Mortari, Timothy J Feyma

Brain Behav Immun Health· January 2020

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Subdural hemorrhage rebleeding in abused children: frequency, associations and clinical presentation.
Jason N Wright, Timothy J Feyma, Gisele E Ishak, Sergey Abeshaus, James B Metz

Pediatr Radiol· December 2019

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Microvascular decompression with partial occipital condylectomy in a case of pediatric spasmodic torticollis.
Patrick Graupman, Timothy Feyma, Thomas Sorenson, Eric S Nussbaum

Childs Nerv Syst· July 2019

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Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.
Sarika U Peters, Cary Fu, Bernhard Suter, Eric Marsh, Timothy A Benke, Timothy Feyma

Clin Genet· May 2019

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A clinical case-control comparison of epidermal innervation density in Rett syndrome.
Frank J Symons, Chantel C Barney, Breanne J Byiers, Brian D McAdams, Shawn X Y L Foster, Timothy J Feyma

Brain Behav· May 2019

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