Publications by authors named "Katherine Mackenzie"

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Cannabidiol Intervention for Non-Epileptic Myoclonus in Angelman Syndrome: A Case Report.
Cyrus Cheung, Siddharth Selvakumar, Moosa Arif, Eric Zhao, Chathuri Senanayake, Katherine Mackenzie

Mov Disord Clin Pract· July 2025

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Human Enteric Glia Diversity in Health and Disease: New Avenues for the Treatment of Hirschsprung Disease.
Jonathan D Windster, Naomi J M Kakiailatu, Laura E Kuil, Agne Antanaviciute, Andrea Sacchetti, Katherine C MacKenzie

Gastroenterology· May 2025

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Efficient proton transport modelling for proton beam therapy and biological quantification.
Ben S Ashby, Veronika Chronholm, Daniel K Hajnal, Alex Lukyanov, Katherine MacKenzie

J Math Biol· April 2025

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Proceedings of the 15 International Newborn Brain Conference: Neuroprotection strategies in the neonate: Fota Island, Cork, Ireland, February 28 - March 2 2024.
Marlen Fossan Aas, Ceyda Acun, Hany Aly, Alan Bainbridge, Claire Baldauf, Katherine Mackenzie

J Neonatal Perinatal Med· August 2024

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Increased self-immolation frequency and severity during the COVID-19 pandemic.
Shane R Jackson, Mia Jung, Gehan Karunaratne, Katherine Mackenzie, Rowan Gillies

Burns· June 2022

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Diagnosis and Initial Treatment of Functional Movement Disorders in Children.
Travis Larsh, Jenny Wilson, Katherine M Mackenzie, Jennifer A O'Malley

Semin Pediatr Neurol· April 2022

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The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model.
Katherine C MacKenzie, Rhiana Garritsen, Rajendra K Chauhan, Yunia Sribudiani, Bianca M de Graaf

Int J Mol Sci· November 2021

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Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.
Laura E Kuil, Katherine C MacKenzie, Clara S Tang, Jonathan D Windster, Thuy Linh Le

PLoS Genet· August 2021

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Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.
Katherine C MacKenzie, Bianca M de Graaf, Andreas Syrimis, Yuying Zhao, Erwin Brosens

Hum Mutat· November 2020

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De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
Dongxue Mao, Chloe M Reuter, Maura R Z Ruzhnikov, Anita E Beck, Emily G Farrow, Katherine M Mackenzie

Am J Hum Genet· April 2020

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TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.
Kevin Lüthy, Davide Mei, Baptiste Fischer, Maurizio De Fusco, Jef Swerts, Katherine M Mackenzie

Brain· August 2019

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Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.
Akash Kumar, Diane B Zastrow, Elijah J Kravets, Daniah Beleford, Maura R Z Ruzhnikov, Katherine M Mackenzie

Am J Med Genet A· June 2019

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Do RET somatic mutations play a role in Hirschsprung disease?
Erwin Brosens, Katherine C MacKenzie, Maria M Alves, Robert M W Hofstra

Genet Med· November 2018

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Stereotypic Movement Disorders.
Mackenzie Katherine

Semin Pediatr Neurol· April 2018

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Regulators of gene expression in Enteric Neural Crest Cells are putative Hirschsprung disease genes.
Duco Schriemer, Yunia Sribudiani, Arne IJpma, Dipa Natarajan, Katherine C MacKenzie

Dev Biol· August 2016

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ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.
Dong-Hui Chen, Aurélie Méneret, Jennifer R Friedman, Olena Korvatska, Alona Gad, Katherine M Mackenzie

Neurology· December 2015

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Optimization and expansion of a site-selective N-methylpyridinium-4-carboxaldehyde-mediated transamination for bacterially expressed proteins.
Kanwal S Palla, Leah S Witus, Katherine J Mackenzie, Chawita Netirojjanakul, Matthew B Francis

J Am Chem Soc· January 2015

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Effects of NIPAm polymer additives on the enzymatic hydrolysis of Avicel and pretreated Miscanthus.
Katherine J Mackenzie, Matthew B Francis

Biotechnol Bioeng· September 2014

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Recyclable thermoresponsive polymer-cellulase bioconjugates for biomass depolymerization.
Katherine J Mackenzie, Matthew B Francis

J Am Chem Soc· January 2013

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Who should teach clinical skills to nursing students?
Katherine M Mackenzie

Br J Nurs· July 2009

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Structure/function analysis of the phosphatidylinositol-3-kinase domain of yeast tra1.
A Irina Mutiu, Stephen M T Hoke, Julie Genereaux, Carol Hannam, Katherine MacKenzie

Genetics· September 2007

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Prefrontal cortex involvement in processing incorrect arithmetic equations: evidence from event-related fMRI.
Vinod Menon, Katherine Mackenzie, Susan Michelle Rivera, Allan Leonard Reiss

Hum Brain Mapp· June 2002

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