Publications by authors named "Stephanie Duguez"

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Mifepristone alone and in combination with scAAV9-SMN1 gene therapy improves disease phenotypes in Smn spinal muscular atrophy mice.
Emma R Sutton, Eve McCallion, Joseph M Hoolachan, Özge Çetin, Paloma Pacheco-Torres, Stephanie Duguez

Sci Rep· November 2025

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Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis.
Mónica Zufiría, Oihane Pikatza-Menoio, Maddi Garciandia-Arcelus, Xabier Bengoetxea, Andrés Jiménez, Stéphanie Duguez

Acta Neuropathol· September 2024

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Serum Neurofilaments in Motor Neuron Disease and Their Utility in Differentiating ALS, PMA and PLS.
Gavin McCluskey, Karen E Morrison, Colette Donaghy, John McConville, Mark O McCarron, Stephanie Duguez

Life (Basel)· May 2023

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Genome-Wide Gene-Set Analysis Identifies Molecular Mechanisms Associated with ALS.
Christina Vasilopoulou, Sarah L McDaid-McCloskey, Gavin McCluskey, Stephanie Duguez, Andrew P Morris

Int J Mol Sci· February 2023

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HGCA2.0: An RNA-Seq Based Webtool for Gene Coexpression Analysis in .
Vasileios L Zogopoulos, Apostolos Malatras, Konstantinos Kyriakidis, Chrysanthi Charalampous, Evanthia A Makrygianni, Stéphanie Duguez

Cells· January 2023

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Extracellular Vesicles in Amyotrophic Lateral Sclerosis.
Gavin McCluskey, Karen E Morrison, Colette Donaghy, Frederique Rene, William Duddy, Stephanie Duguez

Life (Basel)· December 2022

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Genome-Wide Gene-Set Analysis Approaches in Amyotrophic Lateral Sclerosis.
Christina Vasilopoulou, Stephanie Duguez, William Duddy

J Pers Med· November 2022

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The Cellular and Molecular Signature of ALS in Muscle.
Ekene Anakor, William John Duddy, Stephanie Duguez

J Pers Med· November 2022

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The Role of Sphingomyelin and Ceramide in Motor Neuron Diseases.
Gavin McCluskey, Colette Donaghy, Karen E Morrison, John McConville, William Duddy, Stephanie Duguez

J Pers Med· August 2022

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Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles.
Laura Le Gall, William J Duddy, Cecile Martinat, Virginie Mariot, Owen Connolly, Stephanie Duguez

J Cachexia Sarcopenia Muscle· April 2022

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Epidemiology and survival trends of motor neurone disease in Northern Ireland from 2015 to 2019.
Gavin McCluskey, William Duddy, Stephen Haffey, Karen Morrison, Colette Donaghy, Stephanie Duguez

Eur J Neurol· March 2022

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The Neurotoxicity of Vesicles Secreted by ALS Patient Myotubes Is Specific to Exosome-Like and Not Larger Subtypes.
Ekene Anakor, Vanessa Milla, Owen Connolly, Cecile Martinat, Pierre Francois Pradat, Stephanie Duguez

Cells· March 2022

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Optimized Molecular Interaction Networks for the Study of Skeletal Muscle.
Stephen Morgan, Apostolos Malatras, Stephanie Duguez, William Duddy

J Neuromuscul Dis· December 2021

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Exosomes in Ageing and Motor Neurone Disease: Biogenesis, Uptake Mechanisms, Modifications in Disease and Uses in the Development of Biomarkers and Therapeutics.
Ekene Anakor, Laura Le Gall, Julie Dumonceaux, William John Duddy, Stephanie Duguez

Cells· October 2021

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Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity.
Wooi F Lim, Mitra Forouhan, Thomas C Roberts, Jesse Dabney, Ruth Ellerington, Stephanie Duguez

Sci Adv· August 2021

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Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function.
William J Duddy, Stephanie Duguez

J Pers Med· May 2021

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What Can Machine Learning Approaches in Genomics Tell Us about the Molecular Basis of Amyotrophic Lateral Sclerosis?
Christina Vasilopoulou, Andrew P Morris, George Giannakopoulos, Stephanie Duguez, William Duddy

J Pers Med· November 2020

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GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
A Reghan Foley, Yaqun Zou, James E Dunford, Jachinta Rooney, Goutam Chandra, Stephanie Duguez

Ann Neurol· August 2020

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Molecular and Cellular Mechanisms Affected in ALS.
Laura Le Gall, Ekene Anakor, Owen Connolly, Udaya Geetha Vijayakumar, William J Duddy, Stephanie Duguez

J Pers Med· August 2020

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Optimized method for extraction of exosomes from human primary muscle cells.
Laura Le Gall, Zamalou Gisele Ouandaogo, Ekene Anakor, Owen Connolly, Gillian Butler Browne, Stephanie Duguez

Skelet Muscle· July 2020

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A Systematic Review of Genotype-Phenotype Correlation across Cohorts Having Causal Mutations of Different Genes in ALS.
Owen Connolly, Laura Le Gall, Gavin McCluskey, Colette G Donaghy, William J Duddy, Stephanie Duguez

J Pers Med· June 2020

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MyoMiner: explore gene co-expression in normal and pathological muscle.
Apostolos Malatras, Ioannis Michalopoulos, Stéphanie Duguez, Gillian Butler-Browne, Simone Spuler

BMC Med Genomics· May 2020

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Necrotizing Soft Tissue Infection Staphylococcus aureus but not S. pyogenes Isolates Display High Rates of Internalization and Cytotoxicity Toward Human Myoblasts.
Jessica Baude, Sylvère Bastien, Yves Gillet, Pascal Leblanc, Andreas Itzek, Stephanie Duguez

J Infect Dis· July 2019

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Muscle Gene Sets: a versatile methodological aid to functional genomics in the neuromuscular field.
Apostolos Malatras, Stephanie Duguez, William Duddy

Skelet Muscle· May 2019

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A Systematic Review of Suggested Molecular Strata, Biomarkers and Their Tissue Sources in ALS.
Udaya Geetha Vijayakumar, Vanessa Milla, Mei Yu Cynthia Stafford, Anthony J Bjourson, William Duddy, Stephanie Marie-Rose Duguez

Front Neurol· May 2019

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