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All papers authored by Steven Moore

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2023 S. Prakash, S. Moore

ORCID

, A. Snow, Brown Ke

Elevated aminotransferases in a 62-year-old woman.

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Agathe Marcelot, Felipe Rodriguez-Tirado

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, Philippe Cuniasse, Mei-Ling Joiner, Simona Miron, Alexey A. Soshnev, Mimi Fang, Miles A. Pufall, Katherine D. Mathews, Steven A. Moore

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, Sophie Zinn-Justin

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, Pamela K. Geyer

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A De Novo Sequence Variant in Barrier-to-Autointegration Factor Is Associated with Dominant Motor Neuronopathy

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2022 Anabel S. De la Garza-Rodea

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, Anabel de la Garza Rodea, Steven A. Moore

ORCID

, Jesus Zamora-Pineda, Eric P. Hoffman, Karishma Mistry, Ashok Kumar, Jonathan B. Strober, Piming Zhao, Jung H. Suh, Julie D. Saba

ORCID

Sphingosine Phosphate Lyase Is Upregulated in Duchenne Muscular Dystrophy, and Its Inhibition Early in Life Attenuates Inflammation and Dystrophy in Mdx Mice

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Megan A. Waldrop

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, Steven A. Moore

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, Craig M. Zaidman, Robert B. Weiss, Moore Sa, Katherine D. Mathews, Mathews Kd, Benjamin W. Darbro, Darbro Bw, Livja Medne, Richard Finkel, Anne M. Connolly, Connolly Am, Thomas O. Crawford, Crawford To and 19 other authors

Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy

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Nicole Becker, Moore Sa, Steven A. Moore

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, Karra A. Jones

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The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies

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K. Wade Foster, Payam Mohassel

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, Angela Delaney, Ying Hu, Sandra Donkervoort, Dimah Saade

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, Billioux Bj, B. Jeanne Billioux, B. Jeanne Billioux, Brooke Meader, Rita Volochayev, Konersman Cg, Chamindra G. Konersman and 15 other authors

Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants

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Steven A. Moore

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, Grace Bryant, Moore Sa, Nix Js, James S. Nix, Grace Rice, Murat Gokden, Aravindhan Veerapandiyan

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Miyoshi Muscular Dystrophy Due to Novel Splice Site Variants in DYSF Gene

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Erin Willis, Steven A. Moore

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, Moore Sa, Mary O. Cox, Cox Mo, Vikki Stefans, Akilandeswari Aravindhan, Murat Gokden, Aravindhan Veerapandiyan

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Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene

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2021 Aaron A. Stence, Jon G. Thomason, Jonathan A. Pruessner, Ramakrishna R. Sompallae, Anthony N. Snow

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, Deqin, Deqin Ma

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, Steven A. Moore

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, Aaron D. Bossler

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Validation of Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy

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Sarah J. Smith, Lacramioara Fabian

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, Steven A. Moore

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, Ramil Noche, Xiucheng Cui, James J. Dowling

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Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy

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Martijn van de Locht

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, Sandra Donkervoort, Josine M. de Winter, de Winter Jm, Stefan Conijn, Leon Begthel, Steven A. Moore

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, Benno Kusters, Payam Mohassel

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, Ying Hu

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, Livija Medne, Colin Quinn, Moore Sa, A. Reghan Foley

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, Foley Ar and 20 other authors

Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium

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Autumn Rieken, Aaron D. Bossler, Katherine D. Mathews, Steven A. Moore

ORCID

CLIA Laboratory Testing for Facioscapulohumeral Dystrophy

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Martin Rees, Roksana Nikoopour, Atsushi Fukuzawa, Ay Lin Kho, Miguel A. Fernandez-Garcia, Elizabeth Wraige, Istvan Bodi, Charu Deshpande, Özkan Özdemir, Hülya-Sevcan Daimagüler, Mark Pfuhl, Mark Holt, Birgit Brandmeier, Sarah Grover, Joël Fluss and 30 other authors

Making sense of missense variants in TTN-related congenital myopathies

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Torin W. Waters

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, Steven A. Moore

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, Yutaka Sato, Brian J. Dlouhy, Mariko Sato

Refractory infantile high‐grade glioma containing TRK‐fusion responds to larotrectinib

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2020 Himali Jayakody, Sanam Zarei, Huy Nguyen, Joline Dalton, Kelly Chen, Louanne Hudgins, John Day, Kara Withrow, Arti Pandya, Jean Teasley, William B. Dobyns, Katherine D. Mathews, Steven A. Moore

ORCID

Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A)

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Szabolcs Szelinger, Samuel P. Yang, Jonida Krate, Keri Ramsey, Samuel P. Strom, Shieh Pb, Perry B. Shieh, Hane Lee, Newell Belnap, Christopher Balak, Siniard Al, Ashley L. Siniard, Megan Russell, Ryan Richholt, Matt De Both and 14 other authors

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1.

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Ryan J. Diel, Diel Rj, Moore Sa, Steven A. Moore

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, Claire E. Hannah, Hannah Ce, Brittany Bettendorf

A Dramatic Presentation of Immune-Mediated Necrotizing Myopathy

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James S. Nix, Steven A. Moore

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What Every Neuropathologist Needs to Know: The Muscle Biopsy

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2019 Ezgi Saylam, Peter L. Nagy, Vikki Stefans, Aravindhan Veerapandiyan, Akilandeswari Aravindhan, Heather Marton, Steven A. Moore

ORCID

, Murat Gokden, Mary O. Cox

A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy

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