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BMJ Open|April 20, 2024
Patient preferences in genetic newborn screening for rare diseases: study protocolSylvia Martin, Emanuele Angolini, Jennifer Audi, et al.
Brain : a Journal of Neurology|November 22, 2011
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trialsKaren Anthony, Sebahattin Cirak, Silvia Torelli, et al.
Frontiers in Genetics|February 12, 2019
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani FamilyStefania Bigoni, Marcella Neri, Chiara Scotton, et al.
Molecular Genetics and Metabolism|August 6, 2013
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibersValeria Guglielmi, Gaetano Vattemi, Francesca Gualandi, et al.
European Journal of Human Genetics : EJHG|May 5, 2005
Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programsLiborio Stuppia, Ivana Antonucci, Francesco Binni, et al.
American Journal of Human Genetics|October 18, 2016
Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular DystrophyLuca Bello, Kevin M Flanigan, Robert B Weiss, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|February 26, 2009
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mousePaola Rimessi, Patrizia Sabatelli, Marina Fabris, et al.
HGG Advances|January 20, 2022
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencingMaria S Falzarano, Andrea Grilli, Silvia Zia, et al.
Circulation|September 16, 2009
Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main typesClaudio Rapezzi, Giampaolo Merlini, Candida C Quarta, et al.
European Journal of Human Genetics : EJHG|January 4, 2020
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophyPietro Spitali, Irina Zaharieva, Stefan Bohringer, et al.
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