Publications by authors named "Michael Lawlor"

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Myosin inhibition partially rescues the myofiber proteome in X-linked myotubular myopathy.
Elise Gerlach Melhedegaard, Fanny Rostedt, Charlotte Gineste, Robert Ae Seaborne, Hannah F Dugdale, Michael W Lawlor

JCI Insight· December 2025

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Establishment of normal myofiber size distribution in children and young adults.
Michael W Lawlor, Marta Margeta, Karra A Jones, Benedikt Schoser, Jennifer A Cotter

J Neuropathol Exp Neurol· December 2025

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Manual Immunofluorescence Staining for Dystrophin and Key Dystrophin-Associated Proteins.
Hui Meng, Emily M Ott, Mariah J Prom, Margaret J Beatka, Tatyana A Vetter, Michael W Lawlor

Methods Mol Biol· October 2025

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Automated Quantification of Dystrophin Expression by Immunofluorescence in Humans and Animal Models.
Tatyana A Vetter, Michael W Lawlor

Methods Mol Biol· October 2025

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Quantitative Evaluation of Dystrophin Expression Using SDS-PAGE Western Blot Methods.
Margaret J Beatka, Mariah J Prom, Margaret Haberman, Jessica Sutton, J Patrick Gonzalez, Michael W Lawlor

Methods Mol Biol· October 2025

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A homozygous single-nucleotide variant in causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report.
Milla Laarne, Ali Oghabian, Jenni Laitila, Pirjo Isohanni, Olli Tynninen, Michael W Lawlor

J Neuromuscul Dis· September 2025

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Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO study.
Perry B Shieh, Wendy Hughes, Marie Wood, Alan H Beggs, Michael W Lawlor

Ther Adv Rare Dis· September 2025

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The D2.B10-Dmd/J Mouse Model of Duchenne Muscular Dystrophy Exhibits a Severe Mitochondrial Deficiency Not Observed in the C57BL/10ScSn-Dmd/J Mouse.
Jennifer A Tinklenberg, Jessica Sutton, Rebecca A Slick, Hui Meng, Margaret Haberman, Michael W Lawlor

Am J Pathol· September 2025

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Pathogenic TNNT1 variants are associated with aberrant thin filament compliance and myofibre hyper-contractility.
Jenni Laitila, Christopher T A Lewis, Anthony L Hessel, Guido Primiano, Aurelio Hernandez-Lain, Michael W Lawlor

J Physiol· June 2025

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Enhancing AAV-microdystrophin gene therapy after repeat dosing by blocking phagocytosis.
Rita Spathis, Deeva Robles Kuriplach, Sabrina Narvesen, Matthew Eybs, Karen Huang, Michael W Lawlor

Front Immunol· May 2025

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Integrated single-cell functional-proteomic profiling reveals a shift in myofibre specificity in human nemaline myopathy: A proof-of-principle study.
Robert A E Seaborne, Roger Moreno-Justicia, Jenni Laitila, Chris T A Lewis, Lola Savoure, Michael W Lawlor

J Physiol· May 2025

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Corrigendum: Enhancing AAV-microdystrophin gene therapy after repeat dosing by blocking phagocytosis.
Rita Spathis, Deeva Robles Kuriplach, Sabrina Narvesen, Matthew Eybs, Karen Huang, Michael W Lawlor

Front Immunol· March 2025

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Human skeletal muscle fiber heterogeneity beyond myosin heavy chains.
Roger Moreno-Justicia, Thibaux Van der Stede, Ben Stocks, Jenni Laitila, Robert A Seaborne, Michael W Lawlor

Nat Commun· February 2025

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High mobility group box 1 (HMGB1) is a potential disease biomarker in cell and mouse models of Duchenne muscular dystrophy.
Rebecca A Slick, Jessica Sutton, Margaret Haberman, Benjamin S O'Brien, Jennifer A Tinklenberg, Michael W Lawlor

Biol Open· September 2024

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Injectable and Dynamically Crosslinked Zwitterionic Hydrogels for Anti-Fouling and Tissue Regeneration Applications.
Zhicheng Pan, Jonathan Dorogin, Andrew Lofts, Gurpreet Randhawa, Fei Xu, Michael Lawlor

Adv Healthc Mater· July 2024

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Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects.
Esmat Karimi, Jochen Gohlke, Mila van der Borgh, Johan Lindqvist, Zaynab Hourani, Michael W Lawlor

Acta Neuropathol· April 2024

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AAV8 gene therapy reverses cardiac pathology and prevents early mortality in a mouse model of Friedreich's ataxia.
Joshua C Chang, Molly R Ryan, Marie C Stark, Su Liu, Pravinkumar Purushothaman, Michael W Lawlor

Mol Ther Methods Clin Dev· March 2024

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Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial.
Michael W Lawlor, Benedikt Schoser, Marta Margeta, Caroline A Sewry, Karra A Jones

EBioMedicine· January 2024

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Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.
Perry B Shieh, Nancy L Kuntz, James J Dowling, Wolfgang Müller-Felber, Carsten G Bönnemann, Michael W Lawlor

Lancet Neurol· December 2023

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Characterization of mutations in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects.
Esmat Karimi, Mila van der Borgh, Johan Lindqvist, Jochen Gohlke, Zaynab Hourani, Michael W Lawlor

bioRxiv· December 2023

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Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology.
Jennifer A Tinklenberg, Rebecca A Slick, Jessica Sutton, Liwen Zhang, Hui Meng, Michael W Lawlor

Am J Pathol· October 2023

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Aberrations in Energetic Metabolism and Stress-Related Pathways Contribute to Pathophysiology in the Neb Conditional Knockout Mouse Model of Nemaline Myopathy.
Rebecca A Slick, Jennifer A Tinklenberg, Jessica Sutton, Liwen Zhang, Hui Meng, Michael W Lawlor

Am J Pathol· October 2023

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Non-Lung Solid Organ Transplantation From SARS-CoV-2-Positive Donors to Uninfected Recipients.
Jason Wade, Kaitlyn M Petitpas, Wasim Dar, Ayyaz Ali, Joseph A Radojevic, Michael T Lawlor

Transplant Proc· October 2023

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Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy.
Sophie Karolczak, Ashish R Deshwar, Evangelina Aristegui, Binita M Kamath, Michael W Lawlor

J Clin Invest· September 2023

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Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency.
Murtaza S Nagree, Jitka Rybova, Annie Kleynerman, Carissa J Ahrenhoerster, Jennifer T Saville, Michael W Lawlor

Commun Biol· May 2023

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