Kelch proteins: emerging roles in skeletal muscle development and diseases

por Gupta, Vandana A, Beggs, Alan H
Publicado 2014

Rpl5-Inducible Mouse Model for Studying Diamond-Blackfan Anemia

por Kazerounian, Shideh, Yuan, Daniel, Alexander, Matthew S., Beggs, Alan H., Gazda, Hanna T.
Publicado 2019

Skeletal Muscle MicroRNA and Messenger RNA Profiling in Cofilin-2 Deficient Mice Reveals Cell Cycle Dysregulation Hindering Muscle Regeneration

por Morton, Sarah U., Joshi, Mugdha, Savic, Talia, Beggs, Alan H., Agrawal, Pankaj B.
Publicado 2015

Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens

por Widrick, Jeffrey J., Kawahara, Genri, Alexander, Matthew S., Beggs, Alan H., Kunkel, Louis M.
Publicado 2019

Adenylosuccinic Acid: An Orphan Drug with Untapped Potential

por Rybalka, Emma, Kourakis, Stephanie, Bonsett, Charles A., Moghadaszadeh, Behzad, Beggs, Alan H., Timpani, Cara A.
Publicado 2023

Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3

por Mizuno, Yuji, Puca, Annibale A, O'Brien, Kristine F, Beggs, Alan H, Kunkel, Louis M
Publicado 2001

Expectation versus Reality: The Impact of Utility on Emotional Outcomes after Returning Individualized Genetic Research Results in Pediatric Rare Disease Research, a Qualitative In...

por Cacioppo, Cara N., Chandler, Ariel E., Towne, Meghan C., Beggs, Alan H., Holm, Ingrid A.
Publicado 2016

Estimation of the Quality-of-Life Impact of X-Linked Myotubular Myopathy

por Lloyd, Andrew, Aggio, Daniel, Slocomb, Ted L., Lee, Jun, Beggs, Alan H., Bilder, Deborah A.
Publicado 2021

MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing

por Marttila, Minttu, Win, Wathone, Al-Ghamdi, Fouad, Abdel-Hamid, Hoda Z., Lacomis, David, Beggs, Alan H.
Publicado 2019

Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States

por Graham, Robert J., Darras, Basil T., Haselkorn, Tmirah, Fisher, Dan, Genetti, Casie A., Miller, Weston, Beggs, Alan H.
Publicado 2023

Reproducibility of gene expression across generations of Affymetrix microarrays

por Nimgaonkar, Ashish, Sanoudou, Despina, Butte, Atul J, Haslett, Judith N, Kunkel, Louis M, Beggs, Alan H, Kohane, Isaac S
Publicado 2003

Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement

por Ceyhan-Birsoy, Ozge, Talim, Beril, Swanson, Lindsay C., Karakaya, Mert, Graff, Michelle A., Beggs, Alan H., Topaloglu, Haluk
Publicado 2015

Costs and health resource use in patients with X-linked myotubular myopathy: insights from US commercial claims

por Sacks, Naomi C, Healey, Bridget E, Cyr, Philip L, Slocomb, Theodore, James, Emma, Beggs, Alan H, Graham, Robert J
Publicado 2021

Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy

por Hayes, Leslie Hotchkiss, Perdomini, Morgane, Aykanat, Asli, Genetti, Casie A., Paterson, Heather L., Cowling, Belinda S., Freitag, Christian, Beggs, Alan H.
Publicado 2022

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy

por Lawlor, Michael W, Ottenheijm, Coen A, Lehtokari, Vilma-Lotta, Cho, Kiyomi, Pelin, Katarina, Wallgren-Pettersson, Carina, Granzier, Henk, Beggs, Alan H
Publicado 2011

An open source microcontroller based flume for evaluating swimming performance of larval, juvenile, and adult zebrafish

por Widrick, Jeffrey J., Gibbs, Devin E., Sanchez, Benjamin, Gupta, Vandana A., Pakula, Anna, Lawrence, Christian, Beggs, Alan H., Kunkel, Louis M.
Publicado 2018

Development of Soft Tissue Sarcomas in Ribosomal Proteins L5 and S24 Heterozygous Mice

por Kazerounian, Shideh, Ciarlini, Pedro D.S.C., Yuan, Daniel, Ghazvinian, Roxanne, Alberich-Jorda, Meritxell, Joshi, Mugdha, Zhang, Hong, Beggs, Alan H., Gazda, Hanna T.
Publicado 2016

A natural history study of X-linked myotubular myopathy

por Amburgey, Kimberly, Tsuchiya, Etsuko, de Chastonay, Sabine, Glueck, Michael, Alverez, Rachel, Nguyen, Cam-Tu, Rutkowski, Anne, Hornyak, Joseph, Beggs, Alan H., Dowling, James J.
Publicado 2017

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene

por Shelton, G Diane, Rider, Branden E, Child, Georgina, Tzannes, Sophia, Guo, Ling T, Moghadaszadeh, Behzad, Troiano, Emily C, Haase, Bianca, Wade, Claire M, Beggs, Alan H
Publicado 2015

Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene

por de Winter, Josine M, Joureau, Barbara, Sequeira, Vasco, Clarke, Nigel F, van der Velden, Jolanda, Stienen, Ger JM, Granzier, Henk, Beggs, Alan H, Ottenheijm, Coen AC
Publicado 2015