S. Guckes

Nationwide Children's Hospital — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

4h-index263citations10works0.02yr avg
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Research Topics

Muscle Physiology and Disorders(10), RNA Research and Splicing(5), Neurogenetic and Muscular Disorders Research(3), Cardiomyopathy and Myosin Studies(2), Viral Infections and Immunology Research(2)

Publications10 total

AAV-mediated follistatin gene therapy improves functional outcomes in the TIC-DUX4 mouse model of FSHD
JCI Insight·2018· 74 citedOpen Access
FSHD / OPMD / EDMD / DMI
Neuromuscular Disorders·2018
Generation of a new, inducible model of FSHD that develops overt myopathic phenotypes
Neuromuscular Disorders·2017
Mouse Dux is myotoxic and shares partial functional homology with its human paralog DUX4
Human Molecular Genetics·2016· 53 citedOpen Access
Aberrant Splicing in Transgenes Containing Introns, Exons, and V5 Epitopes: Lessons from Developing an FSHD Mouse Model Expressing a D4Z4 Repeat with Flanking Genomic Sequences
PLoS ONE·2015· 16 citedOpen Access
G.P.10
Neuromuscular Disorders·2014
P.16.1 DUX4 regulates expression of the Pro-Apoptotic Gene, p63
Neuromuscular Disorders·2013· 1 cited
P.16.2 The DUX4 promoter is expressed in FSHD-affected tissues
Neuromuscular Disorders·2013
G.P.109 Elucidation of DUX4 binding site affinities by SELEX-Seq
Neuromuscular Disorders·2012
RNA Interference Inhibits DUX4-induced Muscle Toxicity In Vivo: Implications for a Targeted FSHD Therapy
Molecular Therapy·2012· 119 citedOpen Access

Frequent Co-authors

Lindsay M. Wallace(10), Scott Q. Harper(10), Jacqueline S. Domire(8), Sara E. Garwick-Coppens(7), Carlee R. Giesige(5), Jocelyn O. Eidahl(5), Kristin N. Heller(3), Allison M. Fowler(3), Nettie K. Pyne(3), Louise R. Rodino‐Klapac(3), Nizar Y. Saad(2), Mustafa Al-Kharsan(2), Afrooz Rashnonejad(2), Gholamhossein Amini Chermahini(2), Diana Mukweyi(2), K. John McLaughlin(2), Jian Liu(1), Jerry R. Mendell(1), Kevin M. Flanigan(1), Kathrin Meyer(1)