Publications by authors named "Steven A Moore"

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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, Steven A Moore

J Neuropathol Exp Neurol· December 2025

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Spatial proteomics reveals recombinant human laminin-111 restores adhesion signaling to laminin-α2-deficient muscle.
Hailey J Hermann, Ryan D Wuebbles, Marisela Dagda, Axel Muñoz, Lauren L Parker, Steven A Moore

JCI Insight· November 2025

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UDP-glucose dehydrogenase variants cause dystroglycanopathy.
Anna M Reelfs, Carrie M Stephan, Theresa M Czech, Mary O Cox, Soumya Joseph, Steven A Moore

Ann Clin Transl Neurol· June 2025

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A genetic variant in acts as a modifier of -associated muscular dystrophy, implicating SMAD signaling as a therapeutic target.
Nathaniel P Mohar, Christopher J Langland, Zachary Darr, Jill Viles, Steven A Moore

Sci Adv· April 2025

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A pineal region mass in a 55-year-old female.
Aaron McConeghey, Zied Abdullaev, Kenneth Aldape, Steven A Moore, Osorio Lopes Abath Neto

Brain Pathol· January 2025

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Expedited Exome Reanalysis Following Deep Phenotyping and Muscle Biopsy in Suspected Mitochondrial Disorder.
Elizabeth Pickup, Steven A Moore, Pim Suwannarat, Christina Grant, Nicholas Ah Mew

Pediatr Neurol· July 2024

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Eosinophilic granulomatosis with polyangiitis and its association with montelukast: a case-based review.
Grace Alexander, Steven A Moore, Petar S Lenert

Clin Rheumatol· June 2024

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The Influence of a Genetic Variant in on -Associated Skeletal Muscle Disease.
Nathaniel P Mohar, Efrem M Cox, Emily Adelizzi, Steven A Moore, Katherine D Mathews

Int J Mol Sci· April 2024

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Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1.
Aparna Ajjarapu, Shawna M E Feely, Michael E Shy, Christina Trout, Stephan Zuchner, Steven A Moore

Case Rep Neurol· June 2023

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A De Novo Sequence Variant in Barrier-to-Autointegration Factor Is Associated with Dominant Motor Neuronopathy.
Agathe Marcelot, Felipe Rodriguez-Tirado, Philippe Cuniasse, Mei-Ling Joiner, Simona Miron, Steven A Moore

Cells· March 2023

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DUX4 double whammy: The transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose.
Kaoru Inoue, Hamed Bostan, MaKenna R Browne, Owen F Bevis, Carl D Bortner, Steven A Moore

Sci Adv· February 2023

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Ventriculus terminalis cyst in an infant: a case report.
Arnold H Menezes, Yutaka Sato, Brian J Dlouhy, Karra A Jones, Steven A Moore

J Med Case Rep· January 2023

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Development and Validation of a Western Blot Method to Quantify Mini-Dystrophin in Human Skeletal Muscle Biopsies.
Catherine I Soderstrom, Jennifer Larsen, Carolina Owen, David Gifondorwa, David Beidler, Steven A Moore

AAPS J· December 2022

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Miyoshi Muscular Dystrophy Due to Novel Splice Site Variants in Gene.
Grace Bryant, Steven A Moore, James S Nix, Grace Rice, Murat Gokden

Child Neurol Open· November 2022

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Sphingosine Phosphate Lyase Is Upregulated in Duchenne Muscular Dystrophy, and Its Inhibition Early in Life Attenuates Inflammation and Dystrophy in Mdx Mice.
Anabel S De la Garza-Rodea, Steven A Moore, Jesus Zamora-Pineda, Eric P Hoffman, Karishma Mistry

Int J Mol Sci· July 2022

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Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.
Megan A Waldrop, Steven A Moore, Katherine D Mathews, Benjamin W Darbro, Livja Medne

Hum Mutat· April 2022

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Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in Gene.
Erin Willis, Steven A Moore, Mary O Cox, Vikki Stefans, Akilandeswari Aravindhan

Child Neurol Open· April 2022

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Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy.
Sarah J Smith, Lacramioara Fabian, Adeel Sheikh, Ramil Noche, Xiucheng Cui, Steven A Moore

Hum Mol Genet· March 2022

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Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With Variants.
Payam Mohassel, Ning Chang, Kaoru Inoue, Angela Delaney, Ying Hu, Steven A Moore

Neurology· March 2022

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The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies.
Nicole Becker, Steven A Moore, Karra A Jones

Acta Neuropathol Commun· February 2022

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Validation of Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy.
Aaron A Stence, Jon G Thomason, Jonathan A Pruessner, Ramakrishna R Sompallae, Anthony N Snow, Steven A Moore

J Mol Diagn· November 2021

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Refractory infantile high-grade glioma containing TRK-fusion responds to larotrectinib.
Torin W Waters, Steven A Moore, Yutaka Sato, Brian J Dlouhy, Mariko Sato

Pediatr Blood Cancer· May 2021

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Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium.
Martijn van de Locht, Sandra Donkervoort, Josine M de Winter, Stefan Conijn, Leon Begthel, Steven A Moore

J Clin Invest· May 2021

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Making sense of missense variants in TTN-related congenital myopathies.
Martin Rees, Roksana Nikoopour, Atsushi Fukuzawa, Ay Lin Kho, Miguel A Fernandez-Garcia, Steven A Moore

Acta Neuropathol· March 2021

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CLIA Laboratory Testing for Facioscapulohumeral Dystrophy: A Retrospective Analysis.
Autumn Rieken, Aaron D Bossler, Katherine D Mathews, Steven A Moore

Neurology· February 2021

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