What Every Neuropathologist Needs to Know: The Muscle Biopsy

por Nix, James S, Moore, Steven A
Publicado 2020

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

por Becker, Nicole, Moore, Steven A., Jones, Karra A.
Publicado 2022

Dystrophinopathy presenting with arrhythmia in an asymptomatic 34-year-old man: a case report

por Wakefield, Seth E, Dimberg, Elliot L, Moore, Steven A, Tseng, Brian S
Publicado 2009

CLIA Laboratory Testing for Facioscapulohumeral Dystrophy: A Retrospective Analysis

por Rieken, Autumn, Bossler, Aaron D., Mathews, Katherine D., Moore, Steven A.
Publicado 2021

A novel ANO5 splicing variant in a LGMD2L patient leads to production of a truncated aggregation‐prone Ano5 peptide

por Xu, Jing, Xu, Li, Lau, Yeh S, Gao, Yandi, Moore, Steven A, Han, Renzhi
Publicado 2018

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

por Bryant, Grace, Moore, Steven A., Nix, James S., Rice, Grace, Gokden, Murat, Veerapandiyan, Aravindhan
Publicado 2022

Elevated Oxidative Membrane Damage Associated with Genetic Modifiers of Lyst-Mutant Phenotypes

por Trantow, Colleen M., Hedberg-Buenz, Adam, Iwashita, Sachiyo, Moore, Steven A., Anderson, Michael G.
Publicado 2010

Ventriculus terminalis cyst in an infant: a case report

por Menezes, Arnold H., Sato, Yutaka, Dlouhy, Brian J., Jones, Karra A., Moore, Steven A.
Publicado 2023

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

por Willis, Erin, Moore, Steven A., Cox, Mary O., Stefans, Vikki, Aravindhan, Akilandeswari, Gokden, Murat, Veerapandiyan, Aravindhan
Publicado 2022

Differential activation of catalase expression and activity by PPAR agonists: Implications for astrocyte protection in anti-glioma therapy()

por Khoo, Nicholas K.H., Hebbar, Sachin, Zhao, Weiling, Moore, Steven A., Domann, Frederick E., Robbins, Mike E.
Publicado 2013

Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1

por Ajjarapu, Aparna, Feely, Shawna M.E., Shy, Michael E., Trout, Christina, Zuchner, Stephan, Moore, Steven A., Mathews, Katherine D.
Publicado 2023

Glial scaffold required for cerebellar granule cell migration is dependent on dystroglycan function as a receptor for basement membrane proteins

por Nguyen, Huy, Ostendorf, Adam P, Satz, Jakob S, Westra, Steve, Ross-Barta, Susan E, Campbell, Kevin P, Moore, Steven A
Publicado 2013

Early Progressive Dilated Cardiomyopathy in a Family with Becker Muscular Dystrophy Related to a Novel Frameshift Mutation in the Dystrophin Gene Exon 27

por Tsuda, Takeshi, Fitzgerald, Kristi, Scavena, Mena, Gidding, Samuel, Cox, Mary O., Marks, Harold, Flanigan, Kevin M., Moore, Steven A.
Publicado 2014

LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle

por Dialynas, George, Flannery, Kaitlin M., Zirbel, Luka N., Nagy, Peter L., Mathews, Katherine D., Moore, Steven A., Wallrath, Lori L.
Publicado 2012

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

por Saylam, Ezgi, Moore, Steven A., Aravindhan, Akilandeswari, Marton, Heather, Nagy, Peter L., Gokden, Murat, Cox, Mary O., Stefans, Vikki, Veerapandiyan, Aravindhan
Publicado 2019

Development and Validation of a Western Blot Method to Quantify Mini-Dystrophin in Human Skeletal Muscle Biopsies

por Soderstrom, Catherine I., Larsen, Jennifer, Owen, Carolina, Gifondorwa, David, Beidler, David, Yong, Florence H., Conrad, Patricia, Neubert, Hendrik, Moore, Steven A., Hassanein, Mohamed
Publicado 2022

Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cells

por Earle, Ashley J., Kirby, Tyler J., Fedorchak, Gregory R., Isermann, Philipp, Patel, Jineet, Iruvanti, Sushruta, Moore, Steven A., Bonne, Gisèle, Wallrath, Lori L., Lammerding, Jan
Publicado 2019

Myopathic Lamin Mutations Cause Reductive Stress and Activate the Nrf2/Keap-1 Pathway

por Dialynas, George, Shrestha, Om K., Ponce, Jessica M., Zwerger, Monika, Thiemann, Dylan A., Young, Grant H., Moore, Steven A., Yu, Liping, Lammerding, Jan, Wallrath, Lori L.
Publicado 2015

Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation

por Jerath, Nivedita U., Crockett, Cameron D., Moore, Steven A., Shy, Michael E., Weihl, Conrad C., Chou, Tsui-Fen, Grider, Tiffany, Gonzalez, Michael A., Zuchner, Stephan, Swenson, Andrea
Publicado 2015

Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons

por Lawlor, Michael W., Beggs, Alan H., Buj-Bello, Ana, Childers, Martin K., Dowling, James J., James, Emma S., Meng, Hui, Moore, Steven A., Prasad, Suyash, Schoser, Benedikt, Sewry, Caroline A.
Publicado 2016