scholarly journals Multiple Protein Domains Contribute to Nuclear Import and Cell Toxicity of DUX4, a Candidate Pathogenic Protein for Facioscapulohumeral Muscular Dystrophy

PLoS ONE ◽  
2013 ◽  
Vol 8 (10) ◽  
pp. e75614 ◽  
Author(s):  
Edgardo Daniel Corona ◽  
Daniela Jacquelin ◽  
Laura Gatica ◽  
Alberto Luis Rosa
Keyword(s):  
Muscular Dystrophy ◽  
Nuclear Import ◽  
Protein Domains ◽  
Facioscapulohumeral Muscular Dystrophy ◽  
Cell Toxicity ◽  
Multiple Protein

scholarly journals Genetic and molecular analysis of an allelic series of cop1 mutants suggests functional roles for the multiple protein domains.

1994 ◽  
Vol 6 (4) ◽  
pp. 487-500 ◽  
Author(s):  
T W McNellis ◽  
A G von Arnim ◽  
T Araki ◽  
Y Komeda ◽  
S Miséra ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Protein Domains ◽  
Allelic Series ◽  
Functional Roles ◽  
Multiple Protein

scholarly journals Facioscapulohumeral muscular dystrophy – Reproductive counseling, pregnancy and delivery in a complex multigenetic disease

2021 ◽  
Author(s):  
Sanne C. C. Vincenten ◽  
Nienke Stoep ◽  
Aimée D. C. Paulussen ◽  
Karlien Mul ◽  
Umesh A. Badrising ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Facioscapulohumeral Muscular Dystrophy ◽  
Pregnancy And Delivery ◽  
Reproductive Counseling

Magnetic resonance imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: Pattern refinement and implications for clinical trials

2016 ◽  
Vol 79 (5) ◽  
pp. 854-864 ◽  
Author(s):  
Giorgio Tasca ◽  
Mauro Monforte ◽  
Pierfrancesco Ottaviani ◽  
Marco Pelliccioni ◽  
Roberto Frusciante ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Clinical Trials ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Facioscapulohumeral Muscular Dystrophy ◽  
Large Cohort ◽  
Resonance Imaging

Disease modifying factors in facioscapulohumeral muscular dystrophy: Protocol of the FSHD-FOCUS study

2015 ◽  
Vol 25 ◽  
pp. S214-S215
Author(s):  
K. Mul ◽  
G. Horlings ◽  
R. Lemmers ◽  
N. Voermans ◽  
S. van der Maarel ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Facioscapulohumeral Muscular Dystrophy ◽  
Modifying Factors ◽  
Disease Modifying
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